Gene | Condition | Inheritance | Ethnicity | Carrier Rate | Residual Risk | Patient - & Partner not tested | Patient - & Partner - | Patient - & Partner + | Patient + & Partner not tested | Patient + & Partner - | Patient + & Partner + |
---|---|---|---|---|---|---|---|---|---|---|---|

AAAS | Triple-A syndrome (achalasia-addisonianism-alacrimia) | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 436 1 in 549 1 in 1313 1 in 365 1 in 221 | 1 in 8,266 1 in 10431 1 in 24947 1 in 6935 1 in 4199 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 33064 1 in 41724 1 in 99788 1 in 27740 1 in 16796 | 1 in 1744 1 in 2196 1 in 5252 1 in 1460 1 in 884 | 1 in 33064 1 in 41724 1 in 99788 1 in 27740 1 in 16796 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

ABCA12 | Ichthyosis, congenital, autosomal recessive, type 4A; ICAR, type 4B (harlequin) | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 194 1 in 271 1 in 223 1 in 89 1 in 112 | 1 in 715 1 in 1003 1 in 825 1 in 329 1 in 414 | 1 in 554918 <1 in 1,000,000 1 in 735989 1 in 117231 1 in 185651 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 433754 1 in 686909 | 1 in 2860 1 in 4011 1 in 3300 1 in 1317 1 in 1658 | 1 in 776 1 in 1084 1 in 892 1 in 356 1 in 448 | 1 in 2860 1 in 4011 1 in 3300 1 in 1317 1 in 1658 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

ABCA4 | Stargardt disease type 1; Cone-rod dystrophy type 3 | Autosomal recessive | General African/African American East Asian South Asian Latino | 1 in 62 N/A N/A N/A N/A | 1 in 119 N/A N/A N/A N/A | 1 in 29571 N/A N/A N/A N/A | 1 in 56179 N/A N/A N/A N/A | 1 in 474 N/A N/A N/A N/A | 1 in 250 N/A N/A N/A N/A | 1 in 474 N/A N/A N/A N/A | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

ABCB11 | Cholestasis, benign recurrent intrahepatic, type 2; Cholestasis, progressive familial intrahepatic, type 2 | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 276 1 in 295 1 in 153 1 in 654 1 in 390 | 1 in 614 1 in 658 1 in 341 1 in 1459 1 in 870 | 1 in 678366 1 in 776531 1 in 208880 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 1 in 465964 <1 in 1,000,000 <1 in 1,000,000 | 1 in 2458 1 in 2632 1 in 1365 1 in 5836 1 in 3480 | 1 in 1104 1 in 1180 1 in 612 1 in 2616 1 in 1560 | 1 in 2458 1 in 2632 1 in 1365 1 in 5836 1 in 3480 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

ABCC8 | Hyperinsulinemic hypoglycemia, type 1 (congenital hyperinsulinism); Permanent neonatal diabetes mellitus (PNDM) | Autosomal recessive* | Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish | 1 in 192 1 in 256 1 in 119 1 in 364 1 in 285 1 in 55 | 1 in 1,690 1 in 2264 1 in 1052 1 in 3219 1 in 2520 1 in 1760 | <1 in 1,000,000 <1 in 1,000,000 1 in 500852 <1 in 1,000,000 <1 in 1,000,000 1 in 371712 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 6759 1 in 9054 1 in 4209 1 in 12874 1 in 10080 1 in 7040 | 1 in 768 1 in 1024 1 in 476 1 in 1456 1 in 1140 1 in 211 | 1 in 6759 1 in 9054 1 in 4209 1 in 12874 1 in 10080 1 in 7040 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

ABCD1 | Adrenoleukodystrophy | X-linked | Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish | 1 in 14,000 N/A 1 in 20000 N/A N/A N/A | 1 in 28,579 N/A 1 in 40829 N/A N/A N/A | 1 in 114316 N/A 1 in 163315 N/A N/A N/A | - - - - - - | - - - - - - | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 | - - - - - - | - - - - - - |

ABCD4 | Methylmalonic aciduria and homocystinuria, cblJ type | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 496 1 in 534 1 in 328 1 in 313 1 in 859 | 1 in 49,501 1 in 53400 1 in 32800 1 in 31300 1 in 85900 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 198004 1 in 213600 1 in 131200 1 in 125200 1 in 343600 | 1 in 1984 1 in 2136 1 in 1312 1 in 1252 1 in 3436 | 1 in 198004 1 in 213600 1 in 131200 1 in 125200 1 in 343600 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

ACAD8 | Isobutyryl-CoA dehydrogenase deficiency | Autosomal recessive | General African/African American East Asian South Asian Latino | N/A N/A N/A N/A N/A | N/A N/A N/A N/A N/A | N/A N/A N/A N/A N/A | N/A N/A N/A N/A N/A | N/A N/A N/A N/A N/A | N/A N/A N/A N/A N/A | N/A N/A N/A N/A N/A | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

ACAD9 | Acyl-CoA dehydrogenase 9 deficiency (mitochondrial complex I deficiency, nuclear, type 20) | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 309 1 in 784 1 in 2252 1 in 810 1 in 741 | 1 in 576 1 in 1463 1 in 4204 1 in 1512 1 in 1383 | 1 in 711854 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 2304 1 in 5854 1 in 16815 1 in 6048 1 in 5533 | 1 in 1236 1 in 3136 1 in 9008 1 in 3240 1 in 2964 | 1 in 2304 1 in 5854 1 in 16815 1 in 6048 1 in 5533 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

ACADM | Medium-chain acyl-CoA dehydrogenase deficiency | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish | 1 in 50 1 in 172 1 in 255 1 in 142 1 in 92 1 in 133 | <1 in 488 1 in 1720 1 in 2550 1 in 1420 1 in 920 1 in 13300 | 1 in 96920 <1 in 1,000,000 <1 in 1,000,000 1 in 806560 1 in 338560 <1 in 1,000,000 | 1 in 951643 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 1951 1 in 6880 1 in 10200 1 in 5680 1 in 3680 1 in 53200 | 1 in 199 1 in 688 1 in 1020 1 in 568 1 in 368 1 in 532 | 1 in 1951 1 in 6880 1 in 10200 1 in 5680 1 in 3680 1 in 53200 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

ACADS | Short-chain acyl-CoA dehydrogenase deficiency | Autosomal recessive | General African/African American East Asian South Asian Latino | 1 in 102 1 in 52 N/A 1 in 51 1 in 100 | 1 in 1,015 1 in 520 N/A 1 in 510 1 in 1000 | 1 in 415474 1 in 108160 N/A 1 in 104040 1 in 400000 | <1 in 1,000,000 <1 in 1,000,000 N/A <1 in 1,000,000 <1 in 1,000,000 | 1 in 4059 1 in 2080 N/A 1 in 2040 1 in 4000 | 1 in 409 1 in 208 N/A 1 in 204 1 in 400 | 1 in 4059 1 in 2080 N/A 1 in 2040 1 in 4000 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

ACADSB | Short/branched-chain acyl-CoA dehydrogenase deficiency | Autosomal recessive | General African/African American East Asian South Asian Latino | 1 in 500 N/A N/A N/A N/A | 1 in 1,125 N/A N/A N/A N/A | <1 in 1,000,000 N/A N/A N/A N/A | <1 in 1,000,000 N/A N/A N/A N/A | 1 in 4500 N/A N/A N/A N/A | 1 in 2002 N/A N/A N/A N/A | 1 in 4500 N/A N/A N/A N/A | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

ACADVL | Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency | Autosomal recessive | General African/African American East Asian South Asian Latino | 1 in 112 1 in 146 1 in 201 1 in 73 1 in 267 | 1 in 698 1 in 913 1 in 1256 1 in 456 1 in 1669 | 1 in 313792 1 in 532900 <1 in 1,000,000 1 in 133225 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 832656 <1 in 1,000,000 | 1 in 2790 1 in 3650 1 in 5025 1 in 1825 1 in 6675 | 1 in 450 1 in 584 1 in 804 1 in 292 1 in 1068 | 1 in 2790 1 in 3650 1 in 5025 1 in 1825 1 in 6675 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

ACAT1 | Alpha-methylacetoacetic aciduria (3-ketothiolase deficiency) | Autosomal recessive | General African/African American East Asian South Asian Latino | 1 in 500 1 in 1197 1 in 293 1 in 1378 1 in 173 | 1 in 769 1 in 1842 1 in 451 1 in 2120 1 in 266 | <1 in 1,000,000 <1 in 1,000,000 1 in 528302 <1 in 1,000,000 1 in 184178 | <1 in 1,000,000 <1 in 1,000,000 1 in 812772 <1 in 1,000,000 1 in 283351 | 1 in 3078 1 in 7366 1 in 1803 1 in 8480 1 in 1065 | 1 in 2002 1 in 4788 1 in 1172 1 in 5512 1 in 692 | 1 in 3078 1 in 7366 1 in 1803 1 in 8480 1 in 1065 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

ACOX1 | Peroxisomal acyl-CoA oxidase deficiency | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 2,394 1 in 1071 N/A 1 in 3848 1 in 3358 | 1 in 7,180 1 in 3213 N/A 1 in 11544 1 in 10074 | <1 in 1,000,000 <1 in 1,000,000 N/A <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 N/A <1 in 1,000,000 <1 in 1,000,000 | 1 in 28720 1 in 12852 N/A 1 in 46176 1 in 40296 | 1 in 9576 1 in 4284 N/A 1 in 15392 1 in 13432 | 1 in 28720 1 in 12852 N/A 1 in 46176 1 in 40296 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

ACSF3 | Combined malonic and methylmalonic aciduria | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 67 1 in 126 1 in 274 1 in 616 1 in 193 | 1 in 90 1 in 170 1 in 369 1 in 830 1 in 260 | 1 in 24108 1 in 85592 1 in 404758 <1 in 1,000,000 1 in 200821 | 1 in 32369 1 in 115364 1 in 545543 <1 in 1,000,000 1 in 270671 | 1 in 360 1 in 679 1 in 1477 1 in 3321 1 in 1041 | 1 in 268 1 in 504 1 in 1096 1 in 2464 1 in 772 | 1 in 360 1 in 679 1 in 1477 1 in 3321 1 in 1041 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

ADA | Severe combined immunodeficiency due to adenosine deaminase deficiency (ADA) | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 390 1 in 91 1 in 1275 1 in 282 1 in 250 | 1 in 2,335 1 in 546 1 in 7650 1 in 1692 1 in 1500 | <1 in 1,000,000 1 in 198744 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 9340 1 in 2184 1 in 30600 1 in 6768 1 in 6000 | 1 in 1560 1 in 364 1 in 5100 1 in 1128 1 in 1000 | 1 in 9340 1 in 2184 1 in 30600 1 in 6768 1 in 6000 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

ADAMTS2 | Ehlers-Danlos syndrome, dermatosparaxis type | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish | 1 in 2,432 1 in 2434 1 in 631 1 in 3796 1 in 4193 1 in 217 | 1 in 4,053 1 in 4057 1 in 1052 1 in 6327 1 in 6988 1 in 7107 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 16211 1 in 16227 1 in 4207 1 in 25307 1 in 27953 1 in 28430 | 1 in 9728 1 in 9736 1 in 2524 1 in 15184 1 in 16772 1 in 853 | 1 in 16211 1 in 16227 1 in 4207 1 in 25307 1 in 27953 1 in 28430 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

ADGRG1 | Polymicrogyria, bilateral frontoparietal | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 2,033 1 in 917 1 in 1433 1 in 641 1 in 1525 | 1 in 3,557 1 in 1605 1 in 2508 1 in 1122 1 in 2669 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 14228 1 in 6419 1 in 10031 1 in 4487 1 in 10675 | 1 in 8132 1 in 3668 1 in 5732 1 in 2564 1 in 6100 | 1 in 14228 1 in 6419 1 in 10031 1 in 4487 1 in 10675 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

ADGRV1 | Usher syndrome, type 2C | Autosomal recessive, digenic inheritance (PDZD7 gene) | General African/African American East Asian South Asian Latino | 1 in 80 1 in 72 1 in 134 1 in 30 1 in 64 | 1 in 147 1 in 134 1 in 249 1 in 56 1 in 119 | 1 in 46798 1 in 38510 1 in 133387 1 in 6686 1 in 30427 | 1 in 86407 1 in 71518 1 in 247720 1 in 12416 1 in 56508 | 1 in 588 1 in 535 1 in 995 1 in 223 1 in 475 | 1 in 318 1 in 288 1 in 536 1 in 120 1 in 256 | 1 in 588 1 in 535 1 in 995 1 in 223 1 in 475 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

ADK | Hypermethioninemia due to adenosine kinase deficiency | Autosomal recessive | General African/African American East Asian South Asian Latino | 1 in 500 N/A N/A N/A N/A | 1 in 1,498 N/A N/A N/A N/A | <1 in 1,000,000 N/A N/A N/A N/A | <1 in 1,000,000 N/A N/A N/A N/A | 1 in 5992 N/A N/A N/A N/A | 1 in 2000 N/A N/A N/A N/A | 1 in 5992 N/A N/A N/A N/A | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

AGA | Aspartylglucosaminuria (glycosylasparaginase deficiency) | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 975 1 in 1650 1 in 1724 1 in 2198 1 in 1526 | 1 in 3,442 1 in 5830 1 in 6091 1 in 7766 1 in 5392 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 13770 1 in 23320 1 in 24366 1 in 31065 1 in 21567 | 1 in 3900 1 in 6600 1 in 6896 1 in 8792 1 in 6104 | 1 in 13770 1 in 23320 1 in 24366 1 in 31065 1 in 21567 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

AGL | Glycogen storage disease, type 3 | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish Sephardic Jewish | 1 in 259 1 in 191 1 in 549 1 in 510 1 in 470 <1 in 500 1 in 34 | 1 in 1,083 1 in 801 1 in 2302 1 in 2139 1 in 1971 1 in 167167 1 in 1133 | <1 in 1,000,000 1 in 611939 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 154133 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 4332 1 in 3204 1 in 9209 1 in 8555 1 in 7884 1 in 668667 1 in 4533 | 1 in 1036 1 in 764 1 in 2196 1 in 2040 1 in 1880 1 in 20060 1 in 136 | 1 in 4332 1 in 3204 1 in 9209 1 in 8555 1 in 7884 1 in 668667 1 in 4533 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

AGPS | Rhizomelic chondrodysplasia punctata, type 3 | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 18,591 1 in 151 1 in 165 1 in 592 1 in 260 | <1 in 1,000,000 1 in 15100 1 in 16500 1 in 59200 1 in 26000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 7436004 1 in 60400 1 in 66000 1 in 236800 1 in 104000 | 1 in 74364 1 in 604 1 in 660 1 in 2368 1 in 1040 | 1 in 7436004 1 in 60400 1 in 66000 1 in 236800 1 in 104000 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

AGXT | Hyperoxaluria, primary, type 1 | Autosomal recessive | General African/African American East Asian South Asian Latino | 1 in 174 1 in 326 1 in 134 1 in 247 1 in 416 | >1 in 5,758 1 in 10867 1 in 4467 1 in 8233 1 in 13867 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 23032 1 in 43467 1 in 17867 1 in 32933 1 in 55467 | 1 in 695 1 in 1304 1 in 536 1 in 988 1 in 1664 | 1 in 23032 1 in 43467 1 in 17867 1 in 32933 1 in 55467 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

AHCY | Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase | Autosomal recessive | General African/African American East Asian South Asian Latino | 1 in 708 N/A N/A N/A N/A | 1 in 2,122 N/A N/A N/A N/A | <1 in 1,000,000 N/A N/A N/A N/A | <1 in 1,000,000 N/A N/A N/A N/A | 1 in 8488 N/A N/A N/A N/A | 1 in 2832 N/A N/A N/A N/A | 1 in 8488 N/A N/A N/A N/A | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

AHI1 | Joubert syndrome, type 3 | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 334 1 in 151 1 in 255 1 in 636 1 in 172 | 1 in 706 1 in 320 1 in 540 1 in 1347 1 in 364 | 1 in 943452 1 in 193138 1 in 550800 <1 in 1,000,000 1 in 250594 | <1 in 1,000,000 1 in 408998 <1 in 1,000,000 <1 in 1,000,000 1 in 530669 | 1 in 2825 1 in 1279 1 in 2160 1 in 5387 1 in 1457 | 1 in 1336 1 in 604 1 in 1020 1 in 2544 1 in 688 | 1 in 2825 1 in 1279 1 in 2160 1 in 5387 1 in 1457 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

AIPL1 | Leber congenital amaurosis, type 4 | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 160 1 in 101 1 in 1149 1 in 31 1 in 524 | 1 in 189 1 in 119 1 in 1358 1 in 37 1 in 619 | 1 in 120902 1 in 48223 <1 in 1,000,000 1 in 4543 <1 in 1,000,000 | 1 in 142747 1 in 56991 <1 in 1,000,000 1 in 5369 <1 in 1,000,000 | 1 in 756 1 in 477 1 in 5432 1 in 147 1 in 2477 | 1 in 640 1 in 404 1 in 4596 1 in 124 1 in 2096 | 1 in 756 1 in 477 1 in 5432 1 in 147 1 in 2477 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

AIRE | Autoimmune polyendocrinopathy syndrome, type 1 | Autosomal recessive* | Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish Sephardic Jewish | 1 in 209 1 in 437 1 in 313 1 in 979 1 in 422 1 in 500 1 in 27 | 1 in 1,665 1 in 3496 1 in 2504 1 in 7832 1 in 3376 1 in 1667 1 in 2700 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 291600 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 6660 1 in 13984 1 in 10016 1 in 31328 1 in 13504 1 in 6667 1 in 10800 | 1 in 836 1 in 1748 1 in 1252 1 in 3916 1 in 1688 1 in 2000 1 in 108 | 1 in 6660 1 in 13984 1 in 10016 1 in 31328 1 in 13504 1 in 6667 1 in 10800 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

ALDH3A2 | Sjogren-Larsson syndrome | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 718 1 in 825 1 in 816 1 in 1152 1 in 672 | 1 in 4,231 1 in 4868 1 in 4814 1 in 6797 1 in 3965 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 16925 1 in 19470 1 in 19258 1 in 27187 1 in 15859 | 1 in 2872 1 in 3300 1 in 3264 1 in 4608 1 in 2688 | 1 in 16925 1 in 19470 1 in 19258 1 in 27187 1 in 15859 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

ALDH4A1 | Hyperprolinemia, type 2 | Autosomal recessive | General African/African American East Asian South Asian Latino | 1 in 500 N/A N/A N/A N/A | 1 in 49,951 N/A N/A N/A N/A | <1 in 1,000,000 N/A N/A N/A N/A | <1 in 1,000,000 N/A N/A N/A N/A | 1 in 199804 N/A N/A N/A N/A | 1 in 2002 N/A N/A N/A N/A | 1 in 199804 N/A N/A N/A N/A | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

ALDOB | Fructose intolerance, hereditary | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 67 1 in 250 1 in 705 1 in 394 1 in 235 | 1 in 298 1 in 1127 1 in 3177 1 in 1776 1 in 1059 | 1 in 79989 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 995606 | 1 in 356325 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 1194 1 in 4507 1 in 12710 1 in 7103 1 in 4237 | 1 in 268 1 in 1000 1 in 2820 1 in 1576 1 in 940 | 1 in 1194 1 in 4507 1 in 12710 1 in 7103 1 in 4237 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

ALG1 | Congenital disorder of glycosylation, type 1K | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 87 1 in 65 1 in 121 1 in 57 1 in 90 | 1 in 130 1 in 98 1 in 182 1 in 86 1 in 135 | 1 in 45240 1 in 25350 1 in 87846 1 in 19494 1 in 48600 | 1 in 67600 1 in 38025 1 in 131769 1 in 29241 1 in 72900 | 1 in 520 1 in 390 1 in 726 1 in 342 1 in 540 | 1 in 348 1 in 260 1 in 484 1 in 228 1 in 360 | 1 in 520 1 in 390 1 in 726 1 in 342 1 in 540 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

ALG6 | Congenital disorder of glycosylation, type 1C | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 301 1 in 432 1 in 529 1 in 809 1 in 1405 | 1 in 421 1 in 605 1 in 741 1 in 1133 1 in 1967 | 1 in 506884 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 708964 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 1684 1 in 2419 1 in 2962 1 in 4530 1 in 7868 | 1 in 1204 1 in 1728 1 in 2116 1 in 3236 1 in 5620 | 1 in 1684 1 in 2419 1 in 2962 1 in 4530 1 in 7868 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

ALMS1 | Alström syndrome | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 168 1 in 202 1 in 107 1 in 256 1 in 352 | 1 in 488 1 in 589 1 in 312 1 in 747 1 in 1027 | 1 in 327992 1 in 476047 1 in 133572 1 in 764587 <1 in 1,000,000 | 1 in 952901 <1 in 1,000,000 1 in 389584 <1 in 1,000,000 <1 in 1,000,000 | 1 in 1952 1 in 2357 1 in 1248 1 in 2987 1 in 4107 | 1 in 672 1 in 808 1 in 428 1 in 1024 1 in 1408 | 1 in 1952 1 in 2357 1 in 1248 1 in 2987 1 in 4107 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

ALPL | Hypophosphatasia, infantile/childhood | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 274 1 in 588 1 in 131 1 in 810 1 in 447 | 1 in 1,348 1 in 2901 1 in 646 1 in 3996 1 in 2205 | <1 in 1,000,000 <1 in 1,000,000 1 in 338644 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 5391 1 in 11603 1 in 2585 1 in 15984 1 in 8821 | 1 in 1096 1 in 2352 1 in 524 1 in 3240 1 in 1788 | 1 in 5391 1 in 11603 1 in 2585 1 in 15984 1 in 8821 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

AMT | Glycine encephalopathy | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 779 1 in 801 1 in 1437 1 in 905 1 in 390 | 1 in 3,891 1 in 4005 1 in 7185 1 in 4525 1 in 1950 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 15564 1 in 16020 1 in 28740 1 in 18100 1 in 7800 | 1 in 3116 1 in 3204 1 in 5748 1 in 3620 1 in 1560 | 1 in 15564 1 in 16020 1 in 28740 1 in 18100 1 in 7800 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

AP1S2 | Mental retardation, X-linked, syndromic, type 5 (Pettigrew syndrome) | X-linked | General African/African American East Asian South Asian Latino | 1 in 500,000 N/A N/A N/A N/A | 1 in 1,000,000 N/A N/A N/A N/A | <1 in 1,000,000 N/A N/A N/A N/A | - - - - - | - - - - - | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 | - - - - - | - - - - - |

AQP2 | Diabetes insipidus, nephrogenic, type 2 | Autosomal recessive* | Caucasian/European African/African American East Asian South Asian Latino | 1 in 721 1 in 864 1 in 676 1 in 3078 1 in 458 | 1 in 1,773 1 in 2127 1 in 1664 1 in 7577 1 in 1127 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 7093 1 in 8507 1 in 6656 1 in 30306 1 in 4510 | 1 in 2884 1 in 3456 1 in 2704 1 in 12312 1 in 1832 | 1 in 7093 1 in 8507 1 in 6656 1 in 30306 1 in 4510 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

AR | Androgen insensitivity syndrome, complete | X-linked | General African/African American East Asian South Asian Latino | 1 in 16,639 N/A N/A N/A N/A | 1 in 37,670 N/A N/A N/A N/A | 1 in 150679 N/A N/A N/A N/A | - - - - - | - - - - - | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 | - - - - - | - - - - - |

ARG1 | Argininemia (arginase deficiency) | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 2,559 1 in 497 1 in 4596 1 in 7655 1 in 775 | 1 in 6,745 1 in 1310 1 in 12117 1 in 20181 1 in 2043 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 26979 1 in 5241 1 in 48467 1 in 80725 1 in 8173 | 1 in 10236 1 in 1988 1 in 18384 1 in 30620 1 in 3100 | 1 in 26979 1 in 5241 1 in 48467 1 in 80725 1 in 8173 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

ARL13B | Joubert syndrome type 8 | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 72 1 in 45 1 in 65 1 in 52 1 in 41 | 1 in 119 1 in 75 1 in 108 1 in 87 1 in 68 | 1 in 34368 1 in 13500 1 in 28167 1 in 18027 1 in 11207 | 1 in 56962 1 in 22500 1 in 46944 1 in 30044 1 in 18678 | 1 in 477 1 in 300 1 in 433 1 in 347 1 in 273 | 1 in 288 1 in 180 1 in 260 1 in 208 1 in 164 | 1 in 477 1 in 300 1 in 433 1 in 347 1 in 273 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

ARSA | Metachromatic leukodystrophy | Autosomal recessive | General African/African American East Asian South Asian Latino Ashkenazi Jewish Sephardic Jewish | 1 in 135 1 in 239 1 in 364 1 in 371 1 in 503 1 in 815 1 in 46 | 1 in 2,686 1 in 4780 1 in 7280 1 in 7420 1 in 10060 1 in 4060 1 in 1533 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 282133 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 10743 1 in 19120 1 in 29120 1 in 29680 1 in 40240 1 in 16240 1 in 6133 | 1 in 541 1 in 956 1 in 1456 1 in 1484 1 in 2012 1 in 3248 1 in 184 | 1 in 10743 1 in 19120 1 in 29120 1 in 29680 1 in 40240 1 in 16240 1 in 6133 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

ARSB | Mucopolysaccharidosis, type 6 (Maroteaux-Lamy syndrome) | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 314 1 in 664 1 in 1437 1 in 2198 1 in 4195 | 1 in 1,023 1 in 2169 1 in 4694 1 in 7180 1 in 13704 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 4094 1 in 8676 1 in 18777 1 in 28721 1 in 54815 | 1 in 1256 1 in 2656 1 in 5748 1 in 8792 1 in 16780 | 1 in 4094 1 in 8676 1 in 18777 1 in 28721 1 in 54815 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

ARSL | Chondrodysplasia punctata, brachytelephalangic | X-linked | General African/African American East Asian South Asian Latino | 1 in 250,000 N/A N/A N/A N/A | 1 in 477,528 N/A N/A N/A N/A | <1 in 1,000,000 N/A N/A N/A N/A | - - - - - | - - - - - | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 | - - - - - | - - - - - |

ARX | Epileptic encephalopathy, early infantile, type 1; ARX-related developmental disorders | X-linked | General African/African American East Asian South Asian Latino | 1 in 37,038 N/A N/A N/A N/A | 1 in 64,815 N/A N/A N/A N/A | 1 in 259261 N/A N/A N/A N/A | - - - - - | - - - - - | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 | - - - - - | - - - - - |

ASL | Argininosuccinic aciduria | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 117 1 in 375 1 in 444 1 in 527 1 in 437 | 1 in 372 1 in 1199 1 in 1420 1 in 1685 1 in 1397 | 1 in 174063 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 553328 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 1488 1 in 4797 1 in 5679 1 in 6741 1 in 5590 | 1 in 468 1 in 1500 1 in 1776 1 in 2108 1 in 1748 | 1 in 1488 1 in 4797 1 in 5679 1 in 6741 1 in 5590 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

ASNS | Asparagine synthetase deficiency | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish Sephardic Jewish | 1 in 2,023 1 in 16915 1 in 570 1 in 765 1 in 795 <1 in 500 1 in 80 | 1 in 2,567 1 in 21469 1 in 723 1 in 971 1 in 1009 1 in 167833 1 in 2667 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 853333 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 10270 1 in 85876 1 in 2894 1 in 3884 1 in 4036 1 in 671333 1 in 10667 | 1 in 8092 1 in 67660 1 in 2280 1 in 3060 1 in 3180 1 in 20140 1 in 320 | 1 in 10270 1 in 85876 1 in 2894 1 in 3884 1 in 4036 1 in 671333 1 in 10667 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

ASPA | Canavan disease | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish | 1 in 486 1 in 741 N/A 1 in 1923 1 in 899 1 in 46 | 1 in 1,458 1 in 2226 N/A 1 in 5778 1 in 2701 1 in 4768 | <1 in 1,000,000 <1 in 1,000,000 N/A <1 in 1,000,000 <1 in 1,000,000 1 in 909230 | <1 in 1,000,000 <1 in 1,000,000 N/A <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 5833 1 in 8906 N/A 1 in 23111 1 in 10804 1 in 19071 | 1 in 1944 1 in 2964 N/A 1 in 7692 1 in 3596 1 in 191 | 1 in 5833 1 in 8906 N/A 1 in 23111 1 in 10804 1 in 19071 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

ASS1 | Citrullinemia, type 1 | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 323 1 in 339 1 in 809 1 in 192 1 in 304 | 1 in 1,124 1 in 1182 1 in 2820 1 in 669 1 in 1060 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 514040 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 4494 1 in 4727 1 in 11281 1 in 2677 1 in 4239 | 1 in 1292 1 in 1356 1 in 3236 1 in 768 1 in 1216 | 1 in 4494 1 in 4727 1 in 11281 1 in 2677 1 in 4239 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

ATM | Ataxia-telangiectasia | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish | 1 in 150 1 in 200 1 in 152 1 in 211 1 in 240 1 in 180 | 1 in 675 1 in 905 1 in 688 1 in 955 1 in 1086 1 in 18000 | 1 in 405051 1 in 723849 1 in 418095 1 in 805662 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 2700 1 in 3619 1 in 2751 1 in 3818 1 in 4343 1 in 72000 | 1 in 600 1 in 800 1 in 608 1 in 844 1 in 960 1 in 720 | 1 in 2700 1 in 3619 1 in 2751 1 in 3818 1 in 4343 1 in 72000 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

ATP6V1B1 | Renal tubular acidosis with deafness | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish Sephardic Jewish | 1 in 1,092 1 in 1219 1 in 851 1 in 1017 1 in 742 <1 in 500 1 in 140 | 1 in 2,401 1 in 2682 1 in 1872 1 in 2237 1 in 1632 1 in 167733 1 in 4667 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 9605 1 in 10727 1 in 7489 1 in 8950 1 in 6530 1 in 670933 1 in 18667 | 1 in 4368 1 in 4876 1 in 3404 1 in 4068 1 in 2968 1 in 20128 1 in 560 | 1 in 9605 1 in 10727 1 in 7489 1 in 8950 1 in 6530 1 in 670933 1 in 18667 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

ATP7A | Menkes disease; Occipital horn syndrome | X-linked | General African/African American East Asian South Asian Latino | 1 in 150,000 N/A 1 in 180000 N/A N/A | 1 in 501,722 N/A 1 in 602069 N/A N/A | <1 in 1,000,000 N/A <1 in 1,000,000 N/A N/A | - - - - - | - - - - - | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 | - - - - - | - - - - - |

ATP7B | Wilson disease | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish | 1 in 42 1 in 146 1 in 32 1 in 78 1 in 63 1 in 70 | 1 in 249 1 in 884 1 in 194 1 in 472 1 in 381 1 in 2333 | 1 in 41867 1 in 516172 1 in 24796 1 in 147326 1 in 96110 1 in 653333 | 1 in 248415 <1 in 1,000,000 1 in 150113 1 in 891881 1 in 581834 <1 in 1,000,000 | 1 in 997 1 in 3535 1 in 775 1 in 1889 1 in 1526 1 in 9333 | 1 in 168 1 in 584 1 in 128 1 in 312 1 in 252 1 in 280 | 1 in 997 1 in 3535 1 in 775 1 in 1889 1 in 1526 1 in 9333 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

ATP8B1 | Cholestasis, progressive familial intrahepatic, type 1; Cholestasis, benign recurrent intrahepatic, type 1 | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 738 1 in 718 1 in 1127 1 in 1679 1 in 1567 | 1 in 1,803 1 in 1755 1 in 2755 1 in 4104 1 in 3830 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 7210 1 in 7020 1 in 11020 1 in 16417 1 in 15322 | 1 in 2952 1 in 2872 1 in 4508 1 in 6716 1 in 6268 | 1 in 7210 1 in 7020 1 in 11020 1 in 16417 1 in 15322 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

ATRX | Mental retardation-hypotonic facies syndrome, X-linked; Alpha-thalassemia/mental retardation syndrome | X-linked | General African/African American East Asian South Asian Latino | 1 in 500,000 N/A N/A N/A N/A | 1 in 919,360 N/A N/A N/A N/A | <1 in 1,000,000 N/A N/A N/A N/A | - - - - - | - - - - - | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 | - - - - - | - - - - - |

AUH | 3-methylglutaconic aciduria, type 1 | Autosomal recessive | General African/African American East Asian South Asian Latino | <1 in 500 N/A N/A N/A N/A | <1 in 938 N/A N/A N/A N/A | <1 in 1,000,000 N/A N/A N/A N/A | <1 in 1,000,000 N/A N/A N/A N/A | 1 in 3750 N/A N/A N/A N/A | 1 in 2002 N/A N/A N/A N/A | 1 in 3750 N/A N/A N/A N/A | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

B4GALT1 | Congenital disorder of glycosylation, type 2D | Autosomal recessive | General African/African American East Asian South Asian Latino | <1 in 500 N/A N/A N/A N/A | <1 in 50,000 N/A N/A N/A N/A | <1 in 1,000,000 N/A N/A N/A N/A | <1 in 1,000,000 N/A N/A N/A N/A | 1 in 199804 N/A N/A N/A N/A | 1 in 2002 N/A N/A N/A N/A | 1 in 199804 N/A N/A N/A N/A | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

BBS1 | Bardet-Biedl syndrome, type 1 | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 152 1 in 243 1 in 1725 1 in 185 1 in 417 | 1 in 490 1 in 787 1 in 5586 1 in 599 1 in 1350 | 1 in 297891 1 in 764825 <1 in 1,000,000 1 in 443295 <1 in 1,000,000 | 1 in 960213 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 1960 1 in 3147 1 in 22343 1 in 2396 1 in 5401 | 1 in 608 1 in 972 1 in 6900 1 in 740 1 in 1668 | 1 in 1960 1 in 3147 1 in 22343 1 in 2396 1 in 5401 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

BBS10 | Bardet-Biedl syndrome, type 10 | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 237 1 in 470 1 in 428 1 in 425 1 in 1204 | 1 in 666 1 in 1325 1 in 1206 1 in 1198 1 in 3393 | 1 in 631454 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 2664 1 in 5298 1 in 4825 1 in 4791 1 in 13572 | 1 in 948 1 in 1880 1 in 1712 1 in 1700 1 in 4816 | 1 in 2664 1 in 5298 1 in 4825 1 in 4791 1 in 13572 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

BBS12 | Bardet-Biedl syndrome, type 12 | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 613 1 in 843 1 in 4450 1 in 438 1 in 644 | 1 in 798 1 in 1098 1 in 5798 1 in 571 1 in 839 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 999914 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 3194 1 in 4394 1 in 23194 1 in 2283 1 in 3357 | 1 in 2452 1 in 3372 1 in 17800 1 in 1752 1 in 2576 | 1 in 3194 1 in 4394 1 in 23194 1 in 2283 1 in 3357 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

BBS2 | Bardet-Biedl syndrome, type 2 | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish | 1 in 333 1 in 741 1 in 148 1 in 855 1 in 1126 1 in 140 | 1 in 3,255 1 in 7262 1 in 1450 1 in 8379 1 in 11035 1 in 14000 | <1 in 1,000,000 <1 in 1,000,000 1 in 858637 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 13018 1 in 29047 1 in 5802 1 in 33516 1 in 44139 1 in 56000 | 1 in 1332 1 in 2964 1 in 592 1 in 3420 1 in 4504 1 in 560 | 1 in 13018 1 in 29047 1 in 5802 1 in 33516 1 in 44139 1 in 56000 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

BCKDHA | Maple syrup urine disease, type 1A | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 555 1 in 478 1 in 869 1 in 1068 1 in 837 | 1 in 2,317 1 in 1998 1 in 3632 1 in 4464 1 in 3499 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 9267 1 in 7992 1 in 14530 1 in 17857 1 in 13995 | 1 in 2220 1 in 1912 1 in 3476 1 in 4272 1 in 3348 | 1 in 9267 1 in 7992 1 in 14530 1 in 17857 1 in 13995 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

BCKDHB | Maple syrup urine disease, type 1B | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish | 1 in 306 1 in 608 1 in 666 1 in 1665 1 in 412 1 in 97 | 1 in 990 1 in 1971 1 in 2159 1 in 5398 1 in 1336 1 in 9736 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 3959 1 in 7884 1 in 8636 1 in 21591 1 in 5343 1 in 38944 | 1 in 1224 1 in 2432 1 in 2664 1 in 6660 1 in 1648 1 in 389 | 1 in 3959 1 in 7884 1 in 8636 1 in 21591 1 in 5343 1 in 38944 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

BCS1L | BCS1L-related disorders, including Leigh syndrome | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 385 1 in 457 1 in 822 1 in 616 1 in 552 | 1 in 1,230 1 in 1462 1 in 2630 1 in 1971 1 in 1766 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 4919 1 in 5850 1 in 10522 1 in 7885 1 in 7066 | 1 in 1540 1 in 1828 1 in 3288 1 in 2464 1 in 2208 | 1 in 4919 1 in 5850 1 in 10522 1 in 7885 1 in 7066 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

BLM | Bloom syndrome | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish | 1 in 358 1 in 532 1 in 337 1 in 636 1 in 495 1 in 119 | 1 in 35,701 1 in 53200 1 in 33700 1 in 63600 1 in 49500 1 in 4012 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 643838 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 142804 1 in 212800 1 in 134800 1 in 254400 1 in 198000 1 in 16048 | 1 in 1432 1 in 2128 1 in 1348 1 in 2544 1 in 1980 1 in 160 | 1 in 142804 1 in 212800 1 in 134800 1 in 254400 1 in 198000 1 in 16048 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

BRWD3 | Mental retardation, X-linked, type 93 | X-linked | General African/African American East Asian South Asian Latino | 1 in 45,000 N/A N/A N/A N/A | 1 in 65,000 N/A N/A N/A N/A | 1 in 259998 N/A N/A N/A N/A | - - - - - | - - - - - | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 | - - - - - | - - - - - |

BSND | Bartter syndrome, type 4A | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 916 1 in 186 1 in 687 1 in 733 1 in 2856 | 1 in 2,014 1 in 409 1 in 1511 1 in 1613 1 in 6283 | <1 in 1,000,000 1 in 304445 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 1 in 669779 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 8056 1 in 1637 1 in 6046 1 in 6450 1 in 25133 | 1 in 3664 1 in 744 1 in 2748 1 in 2932 1 in 11424 | 1 in 8056 1 in 1637 1 in 6046 1 in 6450 1 in 25133 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

BTD | Biotinidase deficiency | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 120 1 in 52 1 in 324 1 in 7 1 in 136 | 1 in 477 1 in 208 1 in 1296 1 in 28 1 in 544 | 1 in 228960 1 in 43264 <1 in 1,000,000 1 in 784 1 in 295936 | 1 in 910116 1 in 173056 <1 in 1,000,000 1 in 3136 <1 in 1,000,000 | 1 in 1908 1 in 832 1 in 5184 1 in 112 1 in 2176 | 1 in 480 1 in 208 1 in 1296 1 in 28 1 in 544 | 1 in 1908 1 in 832 1 in 5184 1 in 112 1 in 2176 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

BTK | Agammaglobulinemia X-linked, type 1 | X-linked | General African/African American East Asian South Asian Latino | 1 in 126,556 N/A N/A N/A N/A | 1 in 275,310 N/A N/A N/A N/A | <1 in 1,000,000 N/A N/A N/A N/A | - - - - - | - - - - - | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 | - - - - - | - - - - - |

CA2 | Osteopetrosis with renal tubular acidosis (osteopetrosis, autosomal recessive, type 3) | Autosomal recessive | General African/African American East Asian South Asian Latino | <1 in 500 N/A N/A N/A N/A | <1 in 1,000 N/A N/A N/A N/A | <1 in 1,000,000 N/A N/A N/A N/A | <1 in 1,000,000 N/A N/A N/A N/A | 1 in 4000 N/A N/A N/A N/A | 1 in 2002 N/A N/A N/A N/A | 1 in 4000 N/A N/A N/A N/A | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

CAPN3 | Limb-girdle muscular dystrophy, type 1 (LGMD R1) | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 103 1 in 111 1 in 104 1 in 223 1 in 144 | 1 in 7,498 1 in 8158 1 in 7644 1 in 16391 1 in 10584 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 29992 1 in 32634 1 in 30576 1 in 65562 1 in 42336 | 1 in 412 1 in 444 1 in 416 1 in 892 1 in 576 | 1 in 29992 1 in 32634 1 in 30576 1 in 65562 1 in 42336 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

CASQ2 | Ventricular tachycardia, catecholaminergic polymorphic, type 2 | Autosomal recessive | General African/African American East Asian South Asian Latino | 1 in 51 N/A N/A N/A N/A | 1 in 98 N/A N/A N/A N/A | 1 in 19924 N/A N/A N/A N/A | 1 in 38155 N/A N/A N/A N/A | 1 in 391 N/A N/A N/A N/A | 1 in 204 N/A N/A N/A N/A | 1 in 391 N/A N/A N/A N/A | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

CBS | Homocystinuria due to cystathionine beta-synthase | Autosomal recessive | General African/African American East Asian South Asian Latino | 1 in 128 1 in 188 1 in 589 1 in 523 1 in 202 | 1 in 2,541 1 in 3760 1 in 11780 1 in 10460 1 in 4040 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 10162 1 in 15040 1 in 47120 1 in 41840 1 in 16160 | 1 in 512 1 in 752 1 in 2356 1 in 2092 1 in 808 | 1 in 10162 1 in 15040 1 in 47120 1 in 41840 1 in 16160 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

CCN6 | Arthropathy, progressive pseudorheumatoid, of childhood | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 674 1 in 469 1 in 706 1 in 303 1 in 643 | 1 in 1,796 1 in 1251 1 in 1883 1 in 808 1 in 1715 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 979296 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 7183 1 in 5003 1 in 7531 1 in 3232 1 in 6859 | 1 in 2696 1 in 1876 1 in 2824 1 in 1212 1 in 2572 | 1 in 7183 1 in 5003 1 in 7531 1 in 3232 1 in 6859 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

CD40LG | Hyper-IgM syndrome, type 1 (immunodeficiency, X-linked, with hyper-IgM, type 1) | X-linked | General African/African American East Asian South Asian Latino | 1 in 250,000 N/A N/A N/A N/A | 1 in 532,258 N/A N/A N/A N/A | <1 in 1,000,000 N/A N/A N/A N/A | - - - - - | - - - - - | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 | - - - - - | - - - - - |

CDH23 | Deafness, autosomal recessive, type 12; Usher syndrome, type 1D | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 216 1 in 118 1 in 116 1 in 166 1 in 222 | 1 in 499 1 in 273 1 in 268 1 in 384 1 in 514 | 1 in 430825 1 in 128914 1 in 124581 1 in 255125 1 in 456292 | 1 in 994569 1 in 298386 1 in 288357 1 in 590515 <1 in 1,000,000 | 1 in 1995 1 in 1092 1 in 1074 1 in 1537 1 in 2055 | 1 in 864 1 in 472 1 in 464 1 in 664 1 in 888 | 1 in 1995 1 in 1092 1 in 1074 1 in 1537 1 in 2055 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

CEP290 | Meckel syndrome, type 4; Joubert syndrome, type 5; Leber congenital amaurosis, type 10 | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 97 1 in 131 1 in 32 1 in 222 1 in 199 | 1 in 248 1 in 337 1 in 82 1 in 571 1 in 512 | 1 in 96169 1 in 176513 1 in 10533 1 in 506921 1 in 407325 | 1 in 245733 1 in 453891 1 in 27084 <1 in 1,000,000 <1 in 1,000,000 | 1 in 991 1 in 1347 1 in 329 1 in 2283 1 in 2047 | 1 in 388 1 in 524 1 in 128 1 in 888 1 in 796 | 1 in 991 1 in 1347 1 in 329 1 in 2283 1 in 2047 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

CERKL | Retinitis pigmentosa, type 26 | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish Sephardic Jewish | 1 in 370 1 in 963 1 in 547 1 in 416 1 in 602 <1 in 500 1 in 24 | 1 in 515 1 in 1341 1 in 762 1 in 579 1 in 839 1 in 163600 1 in 800 | 1 in 762147 <1 in 1,000,000 <1 in 1,000,000 1 in 964169 <1 in 1,000,000 <1 in 1,000,000 1 in 76800 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 2060 1 in 5365 1 in 3048 1 in 2318 1 in 3354 1 in 654400 1 in 3200 | 1 in 1480 1 in 3852 1 in 2188 1 in 1664 1 in 2408 1 in 19632 1 in 96 | 1 in 2060 1 in 5365 1 in 3048 1 in 2318 1 in 3354 1 in 654400 1 in 3200 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

CFTR | Cystic fibrosis | Autosomal recessive | Caucasian/European African/African American Asian Latino Ashkenazi Jewish | 1 in 26 1 in 61 1 in 94 1 in 58 1 in 24 | 1 in 246 1 in 610 1 in 940 1 in 580 1 in 169 | 1 in 25112 1 in 148840 1 in 353440 1 in 134560 1 in 16255 | 1 in 242265 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 114684 | 1 in 984 1 in 2440 1 in 3760 1 in 2320 1 in 677 | 1 in 102 1 in 244 1 in 376 1 in 232 1 in 96 | 1 in 984 1 in 2440 1 in 3760 1 in 2320 1 in 677 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

CHAT | Myasthenic syndrome, congenital, type 6, presynaptic | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 121 1 in 209 1 in 318 1 in 321 1 in 30 | 1 in 134 1 in 231 1 in 351 1 in 355 1 in 33 | 1 in 64678 1 in 193116 1 in 447075 1 in 455550 1 in 3979 | 1 in 71430 1 in 213444 1 in 494135 1 in 503502 1 in 4398 | 1 in 535 1 in 924 1 in 1406 1 in 1419 1 in 133 | 1 in 484 1 in 836 1 in 1272 1 in 1284 1 in 120 | 1 in 535 1 in 924 1 in 1406 1 in 1419 1 in 133 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

CHM | Choroideremia | X-linked | General African/African American East Asian South Asian Latino | 1 in 33,334 1 in 25000 N/A N/A 1 in 25000 | 1 in 64,000 1 in 48000 N/A N/A 1 in 48000 | 1 in 256001 1 in 192000 N/A N/A 1 in 192000 | - - - - - | - - - - - | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 | - - - - - | - - - - - |

CHRNE | Myasthenic syndrome, congenital, type 4B, fast-channel; Myasthenic syndrome, congenital, type 4C, associated with acetylcholine receptor deficiency | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 244 1 in 300 1 in 299 1 in 312 1 in 366 | 1 in 491 1 in 605 1 in 603 1 in 629 1 in 738 | 1 in 479465 1 in 726304 1 in 721470 1 in 785570 <1 in 1,000,000 | 1 in 965326 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 1965 1 in 2421 1 in 2413 1 in 2518 1 in 2954 | 1 in 976 1 in 1200 1 in 1196 1 in 1248 1 in 1464 | 1 in 1965 1 in 2421 1 in 2413 1 in 2518 1 in 2954 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

CHRNG | Multiple pterygium syndrome (MPS), Escobar type; MPS, lethal type | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 400 1 in 546 1 in 529 1 in 384 1 in 371 | 1 in 1,597 1 in 2184 1 in 2116 1 in 1536 1 in 1484 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 6388 1 in 8736 1 in 8464 1 in 6144 1 in 5936 | 1 in 1600 1 in 2184 1 in 2116 1 in 1536 1 in 1484 | 1 in 6388 1 in 8736 1 in 8464 1 in 6144 1 in 5936 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

CHST6 | Macular corneal dystrophy | Autosomal recessive | General African/African American East Asian South Asian Latino | 1 in 80 N/A N/A N/A N/A | 1 in 394 N/A N/A N/A N/A | 1 in 125725 N/A N/A N/A N/A | 1 in 622315 N/A N/A N/A N/A | 1 in 1578 N/A N/A N/A N/A | 1 in 319 N/A N/A N/A N/A | 1 in 1578 N/A N/A N/A N/A | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

CIITA | Bare lymphocyte syndrome, type 2, complementation group A | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 924 1 in 2879 1 in 1002 1 in 2185 1 in 1322 | 1 in 1,501 1 in 4678 1 in 1628 1 in 3551 1 in 2148 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 6004 1 in 18714 1 in 6513 1 in 14203 1 in 8593 | 1 in 3696 1 in 11516 1 in 4008 1 in 8740 1 in 5288 | 1 in 6004 1 in 18714 1 in 6513 1 in 14203 1 in 8593 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

CLCN1 | Myotonia congenita, recessive | Autosomal recessive | General African/African American East Asian South Asian Latino | 1 in 159 N/A N/A N/A N/A | 1 in 319 N/A N/A N/A N/A | 1 in 202214 N/A N/A N/A N/A | 1 in 406323 N/A N/A N/A N/A | 1 in 1275 N/A N/A N/A N/A | 1 in 634 N/A N/A N/A N/A | 1 in 1275 N/A N/A N/A N/A | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

CLN3 | Ceroid lipofuscinosis, neuronal, type 3 | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 242 1 in 1697 1 in 589 1 in 2552 1 in 1538 | 1 in 2,090 1 in 14707 1 in 5105 1 in 22117 1 in 13329 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 8359 1 in 58829 1 in 20419 1 in 88469 1 in 53317 | 1 in 968 1 in 6788 1 in 2356 1 in 10208 1 in 6152 | 1 in 8359 1 in 58829 1 in 20419 1 in 88469 1 in 53317 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

CLN5 | Ceroid lipofuscinosis, neuronal, type 5 | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 762 1 in 1473 1 in 748 1 in 4827 1 in 794 | 1 in 3,299 1 in 6383 1 in 3241 1 in 20917 1 in 3441 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 13195 1 in 25532 1 in 12965 1 in 83668 1 in 13763 | 1 in 3048 1 in 5892 1 in 2992 1 in 19308 1 in 3176 | 1 in 13195 1 in 25532 1 in 12965 1 in 83668 1 in 13763 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

CLN6 | Ceroid lipofuscinosis, neuronal, type 6 | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 977 1 in 1528 1 in 909 1 in 733 1 in 698 | 1 in 2,840 1 in 4445 1 in 2644 1 in 2132 1 in 2031 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 11361 1 in 17780 1 in 10577 1 in 8529 1 in 8122 | 1 in 3908 1 in 6112 1 in 3636 1 in 2932 1 in 2792 | 1 in 11361 1 in 17780 1 in 10577 1 in 8529 1 in 8122 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

CLN8 | Ceroid lipofuscinosis, neuronal, type 8 | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 1,250 1 in 1107 1 in 1725 1 in 1924 1 in 3358 | 1 in 2,276 1 in 2016 1 in 3142 1 in 3504 1 in 6116 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 9104 1 in 8065 1 in 12568 1 in 14018 1 in 24465 | 1 in 5000 1 in 4428 1 in 6900 1 in 7696 1 in 13432 | 1 in 9104 1 in 8065 1 in 12568 1 in 14018 1 in 24465 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

CLRN1 | Usher syndrome, type 3A | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish | 1 in 420 1 in 632 1 in 1263 N/A 1 in 1889 1 in 132 | 1 in 577 1 in 869 1 in 1737 N/A 1 in 2597 1 in 3771 | 1 in 969570 <1 in 1,000,000 <1 in 1,000,000 N/A <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 N/A <1 in 1,000,000 <1 in 1,000,000 | 1 in 2309 1 in 3476 1 in 6947 N/A 1 in 10390 1 in 15084 | 1 in 1680 1 in 2528 1 in 5052 N/A 1 in 7556 1 in 453 | 1 in 2309 1 in 3476 1 in 6947 N/A 1 in 10390 1 in 15084 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

CNGA1 | Retinitis pigmentosa type 49 | Autosomal recessive | General African/African American East Asian South Asian Latino | 1 in 625 N/A N/A N/A N/A | 1 in 1,171 N/A N/A N/A N/A | <1 in 1,000,000 N/A N/A N/A N/A | <1 in 1,000,000 N/A N/A N/A N/A | 1 in 4684 N/A N/A N/A N/A | 1 in 2500 N/A N/A N/A N/A | 1 in 4684 N/A N/A N/A N/A | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

CNGB1 | Retinitis pigmentosa type 45 | Autosomal recessive | General African/African American East Asian South Asian Latino | 1 in 867 N/A N/A N/A N/A | 1 in 1,614 N/A N/A N/A N/A | <1 in 1,000,000 N/A N/A N/A N/A | <1 in 1,000,000 N/A N/A N/A N/A | 1 in 6454 N/A N/A N/A N/A | 1 in 3468 N/A N/A N/A N/A | 1 in 6454 N/A N/A N/A N/A | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

CNGB3 | Achromatopsia, type 3 | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 87 1 in 50 1 in 208 1 in 18 1 in 90 | 1 in 1,363 1 in 792 1 in 3293 1 in 285 1 in 1425 | 1 in 474208 1 in 158333 <1 in 1,000,000 1 in 20520 1 in 513000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 324900 <1 in 1,000,000 | 1 in 5451 1 in 3167 1 in 13173 1 in 1140 1 in 5700 | 1 in 348 1 in 200 1 in 832 1 in 72 1 in 360 | 1 in 5451 1 in 3167 1 in 13173 1 in 1140 1 in 5700 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

COL27A1 | Steel syndrome | Autosomal recessive | General African/African American East Asian South Asian Latino | 1 in 500 N/A N/A N/A 1 in 40 | N/A N/A N/A N/A N/A | N/A N/A N/A N/A N/A | N/A N/A N/A N/A N/A | N/A N/A N/A N/A N/A | 1 in 2000 N/A N/A N/A 1 in 160 | N/A N/A N/A N/A N/A | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

COL4A3 | Alport syndrome, autosomal recessive, type 2 | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish | 1 in 218 1 in 329 1 in 241 1 in 361 1 in 195 1 in 190 | 1 in 352 1 in 532 1 in 390 1 in 584 1 in 315 1 in 6333 | 1 in 306801 1 in 699996 1 in 375611 1 in 842788 1 in 245908 <1 in 1,000,000 | 1 in 495153 <1 in 1,000,000 1 in 607270 <1 in 1,000,000 1 in 397573 <1 in 1,000,000 | 1 in 1407 1 in 2128 1 in 1559 1 in 2335 1 in 1261 1 in 25331 | 1 in 872 1 in 1316 1 in 964 1 in 1444 1 in 780 1 in 760 | 1 in 1407 1 in 2128 1 in 1559 1 in 2335 1 in 1261 1 in 25331 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

COL4A4 | Alport syndrome, autosomal recessive, type 2 | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 349 1 in 369 1 in 158 1 in 415 1 in 359 | 1 in 565 1 in 598 1 in 256 1 in 673 1 in 582 | 1 in 788969 1 in 882955 1 in 161883 <1 in 1,000,000 1 in 835747 | <1 in 1,000,000 <1 in 1,000,000 1 in 262438 <1 in 1,000,000 <1 in 1,000,000 | 1 in 2261 1 in 2393 1 in 1025 1 in 2691 1 in 2328 | 1 in 1396 1 in 1476 1 in 632 1 in 1660 1 in 1436 | 1 in 2261 1 in 2393 1 in 1025 1 in 2691 1 in 2328 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

COL4A5 | Alport syndrome, X-linked | X-linked | General African/African American East Asian South Asian Latino | 1 in 34,622 N/A N/A N/A N/A | 1 in 72,761 N/A N/A N/A N/A | 1 in 291042 N/A N/A N/A N/A | - - - - - | - - - - - | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 | - - - - - | - - - - - |

COL7A1 | Dystrophic epidermolysis bullosa (DEB), Hallopeau-Siemens (HS) type and non-HS type; DEB pruriginosa; DEB pretibial | Autosomal recessive; Autosomal recessive*; Autosomal recessive* | Caucasian/European African/African American East Asian South Asian Latino | 1 in 100 1 in 199 1 in 262 1 in 95 1 in 190 | 1 in 243 1 in 487 1 in 641 1 in 232 1 in 465 | 1 in 97259 1 in 387448 1 in 671598 1 in 88299 1 in 353195 | 1 in 236485 1 in 947676 <1 in 1,000,000 1 in 215974 1 in 863895 | 1 in 973 1 in 1947 1 in 2563 1 in 929 1 in 1859 | 1 in 400 1 in 796 1 in 1048 1 in 380 1 in 760 | 1 in 973 1 in 1947 1 in 2563 1 in 929 1 in 1859 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

COLQ | Myasthenic syndrome, congenital, type 5 | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 805 1 in 674 1 in 653 1 in 992 1 in 1494 | 1 in 1,420 1 in 1189 1 in 1152 1 in 1751 1 in 2636 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 5679 1 in 4758 1 in 4609 1 in 7002 1 in 10546 | 1 in 3220 1 in 2696 1 in 2612 1 in 3968 1 in 5976 | 1 in 5679 1 in 4758 1 in 4609 1 in 7002 1 in 10546 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

COX15 | Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency, type 2; Leigh syndrome due to cytochrome c oxidase deficiency | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 480 1 in 719 1 in 1839 1 in 159 1 in 887 | 1 in 640 1 in 959 1 in 2452 1 in 212 1 in 1183 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 134832 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 179776 <1 in 1,000,000 | 1 in 2559 1 in 3835 1 in 9808 1 in 848 1 in 4731 | 1 in 1920 1 in 2876 1 in 7356 1 in 636 1 in 3548 | 1 in 2559 1 in 3835 1 in 9808 1 in 848 1 in 4731 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

CPS1 | Carbamoylphosphate synthetase 1 deficiency | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 343 1 in 401 1 in 221 1 in 1026 1 in 740 | 1 in 817 1 in 957 1 in 528 1 in 2449 1 in 1766 | <1 in 1,000,000 <1 in 1,000,000 1 in 466353 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 3270 1 in 3829 1 in 2110 1 in 9797 1 in 7066 | 1 in 1372 1 in 1604 1 in 884 1 in 4104 1 in 2960 | 1 in 3270 1 in 3829 1 in 2110 1 in 9797 1 in 7066 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

CPT1A | Carnitine palmitoyltransferase type 1A deficiency, hepatic | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 1,518 1 in 2550 1 in 1435 1 in 1924 1 in 2821 | 1 in 6,638 1 in 11156 1 in 6278 1 in 8418 1 in 12342 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 26552 1 in 44625 1 in 25113 1 in 33670 1 in 49368 | 1 in 6072 1 in 10200 1 in 5740 1 in 7696 1 in 11284 | 1 in 26552 1 in 44625 1 in 25113 1 in 33670 1 in 49368 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

CPT2 | Carnitine palmitoyltransferase type 2 deficiency, lethal neonatal; Carnitine palmitoyltransferase type 2 deficiency, infantile | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish | 1 in 147 1 in 197 1 in 266 1 in 523 1 in 251 1 in 47 | 1 in 682 1 in 919 1 in 1241 1 in 2439 1 in 1171 1 in 1594 | 1 in 400955 1 in 723971 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 304805 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 2728 1 in 3675 1 in 4962 1 in 9756 1 in 4682 1 in 6375 | 1 in 588 1 in 788 1 in 1064 1 in 2092 1 in 1004 1 in 191 | 1 in 2728 1 in 3675 1 in 4962 1 in 9756 1 in 4682 1 in 6375 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

CRB1 | Retinitis pigmentosa, type 12; Leber congenital amaurosis, type 8 | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 158 1 in 116 1 in 187 1 in 531 1 in 263 | 1 in 203 1 in 149 1 in 241 1 in 684 1 in 339 | 1 in 128433 1 in 69325 1 in 180160 <1 in 1,000,000 1 in 356359 | 1 in 165187 1 in 89291 1 in 232046 <1 in 1,000,000 1 in 458990 | 1 in 813 1 in 598 1 in 963 1 in 2736 1 in 1355 | 1 in 632 1 in 464 1 in 748 1 in 2124 1 in 1052 | 1 in 813 1 in 598 1 in 963 1 in 2736 1 in 1355 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

CRTAP | Osteogenesis imperfecta, type 7 | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 1,416 1 in 546 1 in 1377 1 in 1059 1 in 1122 | 1 in 3,539 1 in 1365 1 in 3443 1 in 2648 1 in 2805 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 14154 1 in 5460 1 in 13770 1 in 10590 1 in 11220 | 1 in 5664 1 in 2184 1 in 5508 1 in 4236 1 in 4488 | 1 in 14154 1 in 5460 1 in 13770 1 in 10590 1 in 11220 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

CTH | Cystathioninuria | Autosomal recessive | General African/African American East Asian South Asian Latino | 1 in 80 N/A N/A N/A N/A | 1 in 7,870 N/A N/A N/A N/A | <1 in 1,000,000 N/A N/A N/A N/A | <1 in 1,000,000 N/A N/A N/A N/A | 1 in 31479 N/A N/A N/A N/A | 1 in 319 N/A N/A N/A N/A | 1 in 31479 N/A N/A N/A N/A | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

CTNS | Nephropathic cystinosis | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish Sephardic Jewish | 1 in 249 1 in 942 1 in 393 1 in 1026 1 in 1696 N/A 1 in 100 | 1 in 900 1 in 3415 1 in 1425 1 in 3719 1 in 6148 N/A 1 in 1000 | 1 in 896400 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 N/A 1 in 400000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 N/A <1 in 1,000,000 | 1 in 3600 1 in 13659 1 in 5699 1 in 14877 1 in 24592 N/A 1 in 4000 | 1 in 996 1 in 3768 1 in 1572 1 in 4104 1 in 6784 N/A 1 in 400 | 1 in 3600 1 in 13659 1 in 5699 1 in 14877 1 in 24592 N/A 1 in 4000 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

CTSA | Galactosialidosis | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 64 1 in 248 1 in 2686 1 in 310 1 in 127 | 1 in 118 1 in 461 1 in 4988 1 in 576 1 in 236 | 1 in 30208 1 in 456887 <1 in 1,000,000 1 in 713886 1 in 119815 | 1 in 55696 1 in 848504 <1 in 1,000,000 <1 in 1,000,000 1 in 222514 | 1 in 472 1 in 1842 1 in 19953 1 in 2303 1 in 943 | 1 in 256 1 in 992 1 in 10744 1 in 1240 1 in 508 | 1 in 472 1 in 1842 1 in 19953 1 in 2303 1 in 943 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

CTSC | Haim-Munk syndrome; Papillon-Lefevre syndrome | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 500 1 in 500 N/A N/A 1 in 500 | 1 in 2,496 1 in 2500 N/A N/A 1 in 2500 | <1 in 1,000,000 <1 in 1,000,000 N/A N/A <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 N/A N/A <1 in 1,000,000 | 1 in 9984 1 in 10000 N/A N/A 1 in 10000 | 1 in 2000 1 in 2000 N/A N/A 1 in 2000 | 1 in 9984 1 in 10000 N/A N/A 1 in 10000 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

CTSD | Ceroid lipofuscinosis, neuronal, type 10 | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 1,003 1 in 1591 1 in 9179 1 in 1912 1 in 1160 | 1 in 4,510 1 in 7160 1 in 41306 1 in 8604 1 in 5220 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 18040 1 in 28638 1 in 165222 1 in 34416 1 in 20880 | 1 in 4012 1 in 6364 1 in 36716 1 in 7648 1 in 4640 | 1 in 18040 1 in 28638 1 in 165222 1 in 34416 1 in 20880 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

CTSK | Pycnodysostosis | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 1,067 1 in 361 1 in 413 1 in 350 1 in 542 | 1 in 3,910 1 in 1324 1 in 1514 1 in 1283 1 in 1987 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 15639 1 in 5295 1 in 6057 1 in 5133 1 in 7949 | 1 in 4268 1 in 1444 1 in 1652 1 in 1400 1 in 2168 | 1 in 15639 1 in 5295 1 in 6057 1 in 5133 1 in 7949 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

CUL4B | Mental retardation, X-linked, syndromic, type 15 (Cabezas type) | X-linked | General African/African American East Asian South Asian Latino | 1 in 500,000 N/A N/A N/A N/A | 1 in 636,300 N/A N/A N/A N/A | <1 in 1,000,000 N/A N/A N/A N/A | - - - - - | - - - - - | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 | - - - - - | - - - - - |

CYBA | Chronic granulomatous disease, type 4 | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish Sephardic Jewish | 1 in 1,689 1 in 806 N/A 1 in 1896 1 in 1933 <1 in 500 1 in 13 | 1 in 1930 1 in 921 N/A 1 in 2167 1 in 2209 1 in 67167 1 in 65 | <1 in 1,000,000 <1 in 1,000,000 N/A <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 3380 | <1 in 1,000,000 <1 in 1,000,000 N/A <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 16900 | 1 in 7721 1 in 3685 N/A 1 in 8667 1 in 8837 1 in 268667 1 in 260 | 1 in 6756 1 in 3224 N/A 1 in 7584 1 in 7732 1 in 8060 1 in 52 | 1 in 7721 1 in 3685 N/A 1 in 8667 1 in 8837 1 in 268667 1 in 260 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

CYBB | Chronic granulomatous disease, X-linked | X-linked | General African/African American East Asian South Asian Latino | 1 in 100,000 N/A N/A N/A N/A | 1 in 250,000 N/A N/A N/A N/A | 1 in 999999 N/A N/A N/A N/A | - - - - - | - - - - - | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 | - - - - - | - - - - - |

CYP11B1 | Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 792 1 in 792 1 in 1485 1 in 284 1 in 339 | 1 in 1,955 1 in 1957 1 in 3669 1 in 702 1 in 838 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 797071 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 7821 1 in 7827 1 in 14675 1 in 2807 1 in 3350 | 1 in 3168 1 in 3168 1 in 5940 1 in 1136 1 in 1356 | 1 in 7821 1 in 7827 1 in 14675 1 in 2807 1 in 3350 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

CYP11B2 | Hypoaldosteronism, congenital, due to CMO I deficiency | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish Sephardic Jewish | 1 in 825 1 in 502 1 in 1457 1 in 1917 1 in 945 N/A 1 in 30 | 1 in 943 1 in 574 1 in 1665 1 in 2191 1 in 1080 N/A 1 in 600 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 N/A 1 in 72000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 N/A <1 in 1,000,000 | 1 in 3771 1 in 2295 1 in 6661 1 in 8763 1 in 4320 N/A 1 in 2400 | 1 in 3300 1 in 2008 1 in 5828 1 in 7668 1 in 3780 N/A 1 in 120 | 1 in 3771 1 in 2295 1 in 6661 1 in 8763 1 in 4320 N/A 1 in 2400 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

CYP17A1 | 17 alpha(α)-hydroxylase/17,20-lyase deficiency | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 560 1 in 2147 1 in 409 1 in 1018 1 in 1313 | 1 in 679 1 in 2602 1 in 496 1 in 1234 1 in 1592 | <1 in 1,000,000 <1 in 1,000,000 1 in 811059 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 1 in 983102 <1 in 1,000,000 <1 in 1,000,000 | 1 in 2714 1 in 10410 1 in 1983 1 in 4936 1 in 6366 | 1 in 2240 1 in 8588 1 in 1636 1 in 4072 1 in 5252 | 1 in 2714 1 in 10410 1 in 1983 1 in 4936 1 in 6366 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

CYP19A1 | Aromatase deficiency | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 2,159 1 in 671 1 in 559 1 in 905 1 in 1009 | 1 in 3,532 1 in 1098 1 in 915 1 in 1481 1 in 1651 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 14129 1 in 4392 1 in 3659 1 in 5924 1 in 6604 | 1 in 8636 1 in 2684 1 in 2236 1 in 3620 1 in 4036 | 1 in 14129 1 in 4392 1 in 3659 1 in 5924 1 in 6604 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

CYP1B1 | Glaucoma, primary congenital, type 3A | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 196 1 in 246 1 in 339 1 in 325 1 in 1667 | 1 in 407 1 in 513 1 in 706 1 in 677 1 in 3473 | 1 in 319284 1 in 504300 1 in 957675 1 in 880208 <1 in 1,000,000 | 1 in 663410 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 1629 1 in 2050 1 in 2825 1 in 2708 1 in 13892 | 1 in 784 1 in 984 1 in 1356 1 in 1300 1 in 6668 | 1 in 1629 1 in 2050 1 in 2825 1 in 2708 1 in 13892 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

CYP21A2 | Congenital adrenal hyperplasia due to 21-hydroxylase deficiency | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish | 1 in 62 1 in 79 1 in 62 1 in 42-59 1 in 73 1 in 40 | 1 in 1,228 1 in 439 1 in 620 1 in 500 1 in 730 1 in 500 | 1 in 306412 1 in 138689 1 in 153760 1 in 100000 1 in 213160 1 in 80000 | <1 in 1,000,000 1 in 770494 <1 in 1,000,000 1 in 1000000 <1 in 1,000,000 1 in 1000000 | 1 in 4913 1 in 1756 1 in 2480 1 in 2000 1 in 2920 1 in 2000 | 1 in 249 1 in 316 1 in 248 1 in 200 1 in 292 1 in 160 | 1 in 4913 1 in 1756 1 in 2480 1 in 2000 1 in 2920 1 in 2000 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

CYP27A1 | Cerebrotendinous xanthomatosis | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish | 1 in 275 1 in 285 1 in 122 1 in 143 1 in 302 1 in 331 | 1 in 1,113 1 in 1157 1 in 495 1 in 580 1 in 1226 1 in 33100 | <1 in 1,000,000 <1 in 1,000,000 1 in 241646 1 in 331996 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 1 in 980799 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 4452 1 in 4627 1 in 1981 1 in 2322 1 in 4903 1 in 132400 | 1 in 1100 1 in 1140 1 in 488 1 in 572 1 in 1208 1 in 1324 | 1 in 4452 1 in 4627 1 in 1981 1 in 2322 1 in 4903 1 in 132400 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

CYP27B1 | Vitamin D-dependent rickets, type 1 | Autosomal recessive | General African/African American East Asian South Asian Latino | N/A N/A N/A N/A N/A | N/A N/A N/A N/A N/A | N/A N/A N/A N/A N/A | N/A N/A N/A N/A N/A | N/A N/A N/A N/A N/A | N/A N/A N/A N/A N/A | N/A N/A N/A N/A N/A | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

DBT | Maple syrup urine disease, type 2 | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 410 1 in 480 <1 in 500 1 in 280 1 in 480 | 1 in 40,900 1 in 48000 1 in 50000 1 in 28000 1 in 48000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 163604 1 in 192000 1 in 200000 1 in 112000 1 in 192000 | 1 in 1640 1 in 1920 1 in 2000 1 in 1120 1 in 1920 | 1 in 163604 1 in 192000 1 in 200000 1 in 112000 1 in 192000 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

DCLRE1C | Omenn syndrome; Severe combined immunodeficiency, Athabascan type | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 903 1 in 511 1 in 958 1 in 901 1 in 1907 | 1 in 1,410 1 in 798 1 in 1497 1 in 1408 1 in 2980 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 5642 1 in 3194 1 in 5988 1 in 5631 1 in 11919 | 1 in 3612 1 in 2044 1 in 3832 1 in 3604 1 in 7628 | 1 in 5642 1 in 3194 1 in 5988 1 in 5631 1 in 11919 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

DCX | Lissencephaly, X-linked, type 1 | X-linked | General African/African American East Asian South Asian Latino | 1 in 50,000 N/A N/A N/A N/A | 1 in 158,748 N/A N/A N/A N/A | 1 in 634991 N/A N/A N/A N/A | - - - - - | - - - - - | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 | - - - - - | - - - - - |

DDB2 | Xeroderma pigmentosum, complementation group E | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 3,138 1 in 5766 1 in 1533 1 in 15308 1 in 8129 | 1 in 15,686 1 in 28830 1 in 7665 1 in 76540 1 in 40645 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 62744 1 in 115320 1 in 30660 1 in 306160 1 in 162580 | 1 in 12552 1 in 23064 1 in 6132 1 in 61232 1 in 32516 | 1 in 62744 1 in 115320 1 in 30660 1 in 306160 1 in 162580 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

DHCR7 | Smith-Lemli-Opitz syndrome | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish | 1 in 70 1 in 51 1 in 357 1 in 334 1 in 118 1 in 38 | 1 in 1,756 1 in 1275 1 in 8925 1 in 8350 1 in 2950 1 in 1278 | 1 in 500310 1 in 260100 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 195970 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 7025 1 in 5100 1 in 35700 1 in 33400 1 in 11800 1 in 5112 | 1 in 285 1 in 204 1 in 1428 1 in 1336 1 in 472 1 in 153 | 1 in 7025 1 in 5100 1 in 35700 1 in 33400 1 in 11800 1 in 5112 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

DHDDS | Retinitis pigmentosa, type 59 | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish | 1 in 6,008 1 in 4291 N/A 1 in 6490 1 in 4223 1 in 117 | 1 in 8,010 1 in 5721 N/A 1 in 8653 1 in 5631 1 in 3900 | <1 in 1,000,000 <1 in 1,000,000 N/A <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 N/A <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 32041 1 in 22885 N/A 1 in 34613 1 in 22523 1 in 15600 | 1 in 24032 1 in 17164 N/A 1 in 25960 1 in 16892 1 in 468 | 1 in 32041 1 in 22885 N/A 1 in 34613 1 in 22523 1 in 15600 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

DKC1 | Dyskeratosis congenita, X-linked | X-linked | General African/African American East Asian South Asian Latino | 1 in 250,000 N/A N/A N/A N/A | 1 in 459,999 N/A N/A N/A N/A | <1 in 1,000,000 N/A N/A N/A N/A | - - - - - | - - - - - | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 | - - - - - | - - - - - |

DLD | Dihydrolipoamide dehydrogenase deficiency | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish | 1 in 1,506 1 in 500 1 in 2252 1 in 1183 1 in 1684 1 in 100 | 1 in 14,549 1 in 4833 1 in 21769 1 in 11436 1 in 16279 1 in 2002 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 801274 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 58197 1 in 19333 1 in 87077 1 in 45743 1 in 65115 1 in 8006 | 1 in 6024 1 in 2000 1 in 9008 1 in 4732 1 in 6736 1 in 400 | 1 in 58197 1 in 19333 1 in 87077 1 in 45743 1 in 65115 1 in 8006 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

DLG3 | Mental retardation, X-linked, type 90 | X-linked | General African/African American East Asian South Asian Latino | 1 in 45,000 N/A N/A N/A N/A | 1 in 100,000 N/A N/A N/A N/A | 1 in 395995 N/A N/A N/A N/A | - - - - - | - - - - - | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 | - - - - - | - - - - - |

DMD | Duchenne/Becker muscular dystrophy | X-linked | General African/African American East Asian South Asian Latino Ashkenazi Jewish | 1 in 2,942 N/A N/A N/A N/A N/A | 1 in 58,819 N/A N/A N/A N/A N/A | 1 in 235277 N/A N/A N/A N/A N/A | - - - - - - | - - - - - - | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 | - - - - - - | - - - - - - |

DNAH5 | Ciliary dyskinesia, primary, type 3, with or without situs inversus | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish | 1 in 87 1 in 169 1 in 193 1 in 326 1 in 204 1 in 144 | 1 in 283 1 in 331 1 in 378 1 in 639 1 in 400 1 in 4567 | 1 in 58435 1 in 223777 1 in 291848 1 in 832678 1 in 326064 <1 in 1,000,000 | 1 in 113814 1 in 438326 1 in 571661 <1 in 1,000,000 1 in 638681 <1 in 1,000,000 | 1 in 675 1 in 1324 1 in 1512 1 in 2554 1 in 1598 1 in 18269 | 1 in 346 1 in 676 1 in 772 1 in 1304 1 in 816 1 in 548 | 1 in 675 1 in 1324 1 in 1512 1 in 2554 1 in 1598 1 in 18269 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

DNAI1 | Ciliary dyskinesia, primary, type 1, with or without situs inversus | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish | 1 in 323 1 in 434 N/A 1 in 1184 1 in 1140 1 in 366 | 1 in 556 1 in 747 N/A 1 in 2039 1 in 1963 1 in 36546 | 1 in 717778 <1 in 1,000,000 N/A <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 N/A <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 2222 1 in 2990 N/A 1 in 8156 1 in 7853 1 in 146186 | 1 in 1292 1 in 1736 N/A 1 in 4736 1 in 4560 1 in 1462 | 1 in 2222 1 in 2990 N/A 1 in 8156 1 in 7853 1 in 146186 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

DNAI2 | Ciliary dyskinesia, primary, type 9, with or without situs inversus | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish | 1 in 758 1 in 414 1 in 1437 1 in 669 1 in 632 1 in 200 | 1 in 1,248 1 in 682 1 in 2367 1 in 1102 1 in 1041 1 in 20000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 4991 1 in 2728 1 in 9467 1 in 4408 1 in 4164 1 in 80000 | 1 in 3032 1 in 1656 1 in 5748 1 in 2676 1 in 2528 1 in 800 | 1 in 4991 1 in 2728 1 in 9467 1 in 4408 1 in 4164 1 in 80000 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

DNAJC12 | Hyperphenylalaninemia, mild, non-BH4-deficient | Autosomal recessive | General African/African American East Asian South Asian Latino | 1 in 500 N/A N/A N/A N/A | N/A N/A N/A N/A N/A | N/A N/A N/A N/A N/A | N/A N/A N/A N/A N/A | N/A N/A N/A N/A N/A | 1 in 2000 N/A N/A N/A N/A | N/A N/A N/A N/A N/A | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

DOK7 | Fetal akinesia deformation sequence, type 3; Myasthenic syndrome, congenital, type 10 | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 262 1 in 178 1 in 255 1 in 193 1 in 255 | 1 in 719 1 in 490 1 in 701 1 in 531 1 in 701 | 1 in 753250 1 in 348524 1 in 715275 1 in 409739 1 in 715275 | <1 in 1,000,000 1 in 958441 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 2875 1 in 1958 1 in 2805 1 in 2123 1 in 2805 | 1 in 1048 1 in 712 1 in 1020 1 in 772 1 in 1020 | 1 in 2875 1 in 1958 1 in 2805 1 in 2123 1 in 2805 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

DOLK | Congenital disorder of glycosylation, type 1M | Autosomal recessive | General African/African American East Asian South Asian Latino | <1 in 500 N/A N/A N/A N/A | <1 in 563 N/A N/A N/A N/A | <1 in 1,000,000 N/A N/A N/A N/A | <1 in 1,000,000 N/A N/A N/A N/A | 1 in 2252 N/A N/A N/A N/A | 1 in 2002 N/A N/A N/A N/A | 1 in 2252 N/A N/A N/A N/A | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

DPAGT1 | Congenital disorder of glycosylation, type 1J; Myasthenic syndrome, congenital, type 13 | Autosomal recessive | General African/African American East Asian South Asian Latino | <1 in 500 N/A N/A N/A N/A | <1 in 808 N/A N/A N/A N/A | <1 in 1,000,000 N/A N/A N/A N/A | <1 in 1,000,000 N/A N/A N/A N/A | 1 in 3232 N/A N/A N/A N/A | 1 in 2002 N/A N/A N/A N/A | 1 in 3232 N/A N/A N/A N/A | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

DPM1 | Congenital disorder of glycosylation, type 1E | Autosomal recessive | General African/African American East Asian South Asian Latino | <1 in 500 N/A N/A N/A N/A | <1 in 1,750 N/A N/A N/A N/A | <1 in 1,000,000 N/A N/A N/A N/A | <1 in 1,000,000 N/A N/A N/A N/A | 1 in 6997 N/A N/A N/A N/A | 1 in 2002 N/A N/A N/A N/A | 1 in 6997 N/A N/A N/A N/A | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

DPYD | Dihydropyrimidine dehydrogenase deficiency | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 558 1 in 710 1 in 196 1 in 248 1 in 970 | 1 in 55,701 1 in 71000 1 in 19600 1 in 24800 1 in 97000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 222804 1 in 284000 1 in 78400 1 in 99200 1 in 388000 | 1 in 2232 1 in 2840 1 in 784 1 in 992 1 in 3880 | 1 in 222804 1 in 284000 1 in 78400 1 in 99200 1 in 388000 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

DUOX2 | Thyroid dyshormonogenesis, type 6 | Autosomal recessive | General African/African American East Asian South Asian Latino | 1 in 80 N/A N/A N/A N/A | 1 in 170 N/A N/A N/A N/A | 1 in 54064 N/A N/A N/A N/A | 1 in 115077 N/A N/A N/A N/A | 1 in 678 N/A N/A N/A N/A | 1 in 319 N/A N/A N/A N/A | 1 in 678 N/A N/A N/A N/A | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

DUOXA2 | Thyroid dyshormonogenesis, type 5 | Autosomal recessive | General African/African American East Asian South Asian Latino | 1 in 80 N/A N/A N/A N/A | 1 in 144 N/A N/A N/A N/A | 1 in 45921 N/A N/A N/A N/A | 1 in 83021 N/A N/A N/A N/A | 1 in 576 N/A N/A N/A N/A | 1 in 319 N/A N/A N/A N/A | 1 in 576 N/A N/A N/A N/A | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

DYSF | Miyoshi muscular dystrophy, type 1; Limb-girdle muscular dystrophy, type 2 (LGMD R2) | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish Sephardic Jewish | 1 in 199 1 in 118 1 in 141 1 in 199 1 in 182 N/A 1 in 13 | 1 in 1,050 1 in 625 1 in 747 1 in 1054 1 in 964 N/A 1 in 433 | 1 in 835783 1 in 295070 1 in 421308 1 in 839204 1 in 701947 N/A 1 in 22533 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 N/A 1 in 751111 | 1 in 4200 1 in 2501 1 in 2988 1 in 4217 1 in 3857 N/A 1 in 1733 | 1 in 796 1 in 472 1 in 564 1 in 796 1 in 728 N/A 1 in 52 | 1 in 4200 1 in 2501 1 in 2988 1 in 4217 1 in 3857 N/A 1 in 1733 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

EDA | Ectodermal dysplasia, type 1, hypohidrotic, X-linked | X-linked | General African/African American East Asian South Asian Latino | 1 in 5,715 N/A N/A N/A N/A | 1 in 10,610 N/A N/A N/A N/A | 1 in 42442 N/A N/A N/A N/A | - - - - - | - - - - - | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 | - - - - - | - - - - - |

EDAR | Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type | Autosomal recessive | General African/African American East Asian South Asian Latino | 1 in 131 1 in 65 N/A N/A 1 in 65 | 1 in 252 1 in 125 N/A N/A 1 in 125 | 1 in 132544 1 in 32602 N/A N/A 1 in 32602 | 1 in 254752 1 in 62892 N/A N/A 1 in 62892 | 1 in 1009 1 in 502 N/A N/A 1 in 502 | 1 in 525 1 in 260 N/A N/A 1 in 260 | 1 in 1009 1 in 502 N/A N/A 1 in 502 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

EIF2AK3 | Wolcott-Rallison syndrome | Autosomal recessive | General African/African American East Asian South Asian Latino | <1 in 500 N/A N/A N/A N/A | <1 in 2,500 N/A N/A N/A N/A | <1 in 1,000,000 N/A N/A N/A N/A | <1 in 1,000,000 N/A N/A N/A N/A | 1 in 9984 N/A N/A N/A N/A | 1 in 2000 N/A N/A N/A N/A | 1 in 9984 N/A N/A N/A N/A | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

EIF2B5 | Leukoencephalopathy with vanishing white matter | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 390 1 in 940 1 in 1502 1 in 3078 1 in 458 | 1 in 974 1 in 2350 1 in 3755 1 in 7695 1 in 1145 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 3894 1 in 9400 1 in 15020 1 in 30780 1 in 4580 | 1 in 1560 1 in 3760 1 in 6008 1 in 12312 1 in 1832 | 1 in 3894 1 in 9400 1 in 15020 1 in 30780 1 in 4580 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

ELP1 | Familial dysautonomia | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish | 1 in 506 1 in 808 1 in 657 1 in 853 1 in 594 1 in 34 | 1 in 621 1 in 992 1 in 807 1 in 1047 1 in 729 1 in 2692 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 376923 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 2484 1 in 3969 1 in 3227 1 in 4190 1 in 2918 1 in 10769 | 1 in 2024 1 in 3232 1 in 2628 1 in 3412 1 in 2376 1 in 140 | 1 in 2484 1 in 3969 1 in 3227 1 in 4190 1 in 2918 1 in 10769 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

EMD | Emery-Dreifuss muscular dystrophy, type 1, X-linked | X-linked | General African/African American East Asian South Asian Latino | 1 in 88,496 N/A N/A N/A N/A | <1 in 1,000,000 N/A N/A N/A N/A | <1 in 1,000,000 N/A N/A N/A N/A | - - - - - | - - - - - | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 | - - - - - | - - - - - |

ERCC2 | Trichothiodystrophy, type 1 | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 154 1 in 243 1 in 49 1 in 54 1 in 222 | 1 in 1,378 1 in 2187 1 in 441 1 in 486 1 in 1998 | 1 in 848848 <1 in 1,000,000 1 in 86436 1 in 104976 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 1 in 777924 1 in 944784 <1 in 1,000,000 | 1 in 5512 1 in 8748 1 in 1764 1 in 1944 1 in 7992 | 1 in 616 1 in 972 1 in 196 1 in 216 1 in 888 | 1 in 5512 1 in 8748 1 in 1764 1 in 1944 1 in 7992 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

ERCC3 | Trichothiodystrophy, type 2 | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 436 1 in 363 1 in 486 1 in 958 1 in 533 | 1 in 1,306 1 in 1089 1 in 1458 1 in 2874 1 in 1599 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 5224 1 in 4356 1 in 5832 1 in 11496 1 in 6396 | 1 in 1744 1 in 1452 1 in 1944 1 in 3832 1 in 2132 | 1 in 5224 1 in 4356 1 in 5832 1 in 11496 1 in 6396 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

ERCC5 | Cerebrooculofacioskeletal syndrome, type 3 | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 970 1 in 909 1 in 703 1 in 279 1 in 878 | 1 in 96,901 1 in 90900 1 in 70300 1 in 27900 1 in 87800 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 387604 1 in 363600 1 in 281200 1 in 111600 1 in 351200 | 1 in 3880 1 in 3636 1 in 2812 1 in 1116 1 in 3512 | 1 in 387604 1 in 363600 1 in 281200 1 in 111600 1 in 351200 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

ERCC6 | Cockayne syndrome, type B; Cerebrooculofacioskeletal syndrome, type 1 | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 335 1 in 214 1 in 241 1 in 431 1 in 419 | 1 in 3,132 1 in 2006 1 in 2259 1 in 4041 1 in 3928 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 12529 1 in 8025 1 in 9038 1 in 16163 1 in 15713 | 1 in 1340 1 in 856 1 in 964 1 in 1724 1 in 1676 | 1 in 12529 1 in 8025 1 in 9038 1 in 16163 1 in 15713 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

ERCC8 | Cockayne syndrome, type A | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 1,080 1 in 1557 1 in 1006 1 in 1387 1 in 218 | 1 in 2,670 1 in 3852 1 in 2489 1 in 3431 1 in 539 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 470237 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 10680 1 in 15406 1 in 9954 1 in 13724 1 in 2157 | 1 in 4320 1 in 6228 1 in 4024 1 in 5548 1 in 872 | 1 in 10680 1 in 15406 1 in 9954 1 in 13724 1 in 2157 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

ESCO2 | Roberts syndrome | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 1,395 1 in 671 1 in 950 1 in 1378 1 in 3312 | 1 in 18,820 1 in 9059 1 in 12825 1 in 18603 1 in 44712 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 75280 1 in 36234 1 in 51300 1 in 74412 1 in 178848 | 1 in 5580 1 in 2684 1 in 3800 1 in 5512 1 in 13248 | 1 in 75280 1 in 36234 1 in 51300 1 in 74412 1 in 178848 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

ETFA | Glutaric acidemia, type 2A | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 857 1 in 939 1 in 1246 1 in 1099 1 in 3383 | 1 in 2,284 1 in 2504 1 in 3323 1 in 2931 1 in 9021 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 9135 1 in 10016 1 in 13291 1 in 11723 1 in 36085 | 1 in 3428 1 in 3756 1 in 4984 1 in 4396 1 in 13532 | 1 in 9135 1 in 10016 1 in 13291 1 in 11723 1 in 36085 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

ETFB | Glutaric acidemia, type 2B | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 1,593 1 in 821 1 in 9195 1 in 1021 1 in 8122 | 1 in 2,230 1 in 1149 1 in 12873 1 in 1429 1 in 11371 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 8919 1 in 4598 1 in 51492 1 in 5718 1 in 45483 | 1 in 6372 1 in 3284 1 in 36780 1 in 4084 1 in 32488 | 1 in 8919 1 in 4598 1 in 51492 1 in 5718 1 in 45483 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

ETFDH | Glutaric acidemia, type 2C | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 336 1 in 343 1 in 89 1 in 733 1 in 586 | 1 in 615 1 in 629 1 in 163 1 in 1344 1 in 1074 | 1 in 826784 1 in 862759 1 in 58087 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 1 in 106493 <1 in 1,000,000 <1 in 1,000,000 | 1 in 2461 1 in 2515 1 in 653 1 in 5375 1 in 4297 | 1 in 1344 1 in 1372 1 in 356 1 in 2932 1 in 2344 | 1 in 2461 1 in 2515 1 in 653 1 in 5375 1 in 4297 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

ETHE1 | Ethylmalonic encephalopathy | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 1,279 1 in 1897 N/A 1 in 3848 1 in 934 | 1 in 4,794 1 in 7114 N/A 1 in 14430 1 in 3503 | <1 in 1,000,000 <1 in 1,000,000 N/A <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 N/A <1 in 1,000,000 <1 in 1,000,000 | 1 in 19174 1 in 28455 N/A 1 in 57720 1 in 14010 | 1 in 5116 1 in 7588 N/A 1 in 15392 1 in 3736 | 1 in 19174 1 in 28455 N/A 1 in 57720 1 in 14010 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

EVC | Ellis-van Creveld syndrome | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 370 1 in 555 1 in 456 1 in 1486 1 in 1199 | 1 in 739 1 in 1110 1 in 912 1 in 2972 1 in 2398 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 2956 1 in 4440 1 in 3648 1 in 11888 1 in 9592 | 1 in 1480 1 in 2220 1 in 1824 1 in 5944 1 in 4796 | 1 in 2956 1 in 4440 1 in 3648 1 in 11888 1 in 9592 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

EVC2 | Ellis-van Creveld syndrome | Autosomal recessive | General African/African American East Asian South Asian Latino | 1 in 240 N/A N/A N/A N/A | 1 in 718 N/A N/A N/A N/A | 1 in 689280 N/A N/A N/A N/A | <1 in 1,000,000 N/A N/A N/A N/A | 1 in 2872 N/A N/A N/A N/A | 1 in 960 N/A N/A N/A N/A | 1 in 2872 N/A N/A N/A N/A | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

EXOSC3 | Pontocerebellar hypoplasia, type 1B | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 139 1 in 287 1 in 336 1 in 213 1 in 507 | 1 in 300 1 in 622 1 in 728 1 in 462 1 in 1099 | 1 in 166800 1 in 713865 1 in 978432 1 in 393198 <1 in 1,000,000 | 1 in 360000 <1 in 1,000,000 <1 in 1,000,000 1 in 851929 <1 in 1,000,000 | 1 in 1200 1 in 2487 1 in 2912 1 in 1846 1 in 4394 | 1 in 556 1 in 1148 1 in 1344 1 in 852 1 in 2028 | 1 in 1200 1 in 2487 1 in 2912 1 in 1846 1 in 4394 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

EYS | Retinitis pigmentosa, type 25 | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish | 1 in 82 1 in 71 1 in 53 1 in 168 1 in 152 1 in 109 | 1 in 139 1 in 121 1 in 91 1 in 287 1 in 260 1 in 3633 | 1 in 45751 1 in 34474 1 in 19210 1 in 193016 1 in 158002 <1 in 1,000,000 | 1 in 77823 1 in 58939 1 in 32843 1 in 329995 1 in 270132 <1 in 1,000,000 | 1 in 558 1 in 486 1 in 362 1 in 1149 1 in 1039 1 in 14533 | 1 in 328 1 in 284 1 in 212 1 in 672 1 in 608 1 in 436 | 1 in 558 1 in 486 1 in 362 1 in 1149 1 in 1039 1 in 14533 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

F11 | Factor XI deficiency | Autosomal recessive* | General African/African American East Asian South Asian Latino Ashkenazi Jewish | 1 in 500 1 in 500 1 in 94 1 in 217 1 in 500 1 in 12 | N/A N/A N/A N/A N/A 1 in 230 | N/A N/A N/A N/A N/A 1 in 10580 | N/A N/A N/A N/A N/A 1 in 211600 | N/A N/A N/A N/A N/A 1 in 920 | 1 in 720 1 in 2000 1 in 376 1 in 868 1 in 2000 1 in 46 | N/A N/A N/A N/A N/A 1 in 920 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

F2 | Prothrombin deficiency | Autosomal recessive | General African/African American East Asian South Asian Latino | 1 in 415 N/A N/A N/A N/A | 1 in 1,325 N/A N/A N/A N/A | <1 in 1,000,000 N/A N/A N/A N/A | <1 in 1,000,000 N/A N/A N/A N/A | 1 in 5300 N/A N/A N/A N/A | 1 in 1659 N/A N/A N/A N/A | 1 in 5300 N/A N/A N/A N/A | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

F5 | Factor V deficiency | Autosomal recessive | General African/African American East Asian South Asian Latino | 1 in 500 N/A N/A N/A N/A | N/A N/A N/A N/A N/A | N/A N/A N/A N/A N/A | N/A N/A N/A N/A N/A | N/A N/A N/A N/A N/A | 1 in 2000 N/A N/A N/A N/A | N/A N/A N/A N/A N/A | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

F8 | Hemophilia A | X-linked | General African/African American East Asian South Asian Latino | 1 in 4,635 N/A N/A N/A N/A | <1 in 16,550 N/A N/A N/A N/A | 1 in 66207 N/A N/A N/A N/A | - - - - - | - - - - - | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 | - - - - - | - - - - - |

F9 | Hemophilia B | X-linked | General African/African American East Asian South Asian Latino | 1 in 15,000 1 in 20000 N/A N/A 1 in 20000 | <1 in 29,000 1 in 38289 N/A N/A 1 in 38289 | 1 in 114866 1 in 153154 N/A N/A 1 in 153154 | - - - - - | - - - - - | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 | - - - - - | - - - - - |

FAH | Tyrosinemia, type 1 | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish | 1 in 259 1 in 359 N/A 1 in 592 1 in 682 1 in 147 | 1 in 925 1 in 1285 N/A 1 in 2120 1 in 2442 1 in 4881 | 1 in 957993 <1 in 1,000,000 N/A <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 N/A <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 3699 1 in 5141 N/A 1 in 8478 1 in 9767 1 in 19522 | 1 in 1036 1 in 1436 N/A 1 in 2368 1 in 2728 1 in 586 | 1 in 3699 1 in 5141 N/A 1 in 8478 1 in 9767 1 in 19522 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

FAM161A | Retinitis pigmentosa, type 28 | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish | 1 in 343 1 in 488 1 in 1450 1 in 716 1 in 1104 1 in 214 | 1 in 856 1 in 1220 1 in 3625 1 in 1790 1 in 2760 1 in 7133 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 3424 1 in 4880 1 in 14500 1 in 7160 1 in 11040 1 in 28533 | 1 in 1372 1 in 1952 1 in 5800 1 in 2864 1 in 4416 1 in 856 | 1 in 3424 1 in 4880 1 in 14500 1 in 7160 1 in 11040 1 in 28533 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

FAM20C | Raine syndrome | Autosomal recessive | General African/African American East Asian South Asian Latino | <1 in 500 N/A N/A N/A N/A | <1 in 1,000 N/A N/A N/A N/A | <1 in 1,000,000 N/A N/A N/A N/A | <1 in 1,000,000 N/A N/A N/A N/A | 1 in 4000 N/A N/A N/A N/A | 1 in 2002 N/A N/A N/A N/A | 1 in 4000 N/A N/A N/A N/A | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

FANCA | Fanconi anemia, complementation group A | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish | 1 in 148 1 in 157 1 in 182 1 in 257 1 in 278 1 in 251 | 1 in 269 1 in 287 1 in 332 1 in 469 1 in 508 1 in 2510 | 1 in 159484 1 in 180021 1 in 241917 1 in 482380 1 in 564434 <1 in 1,000,000 | 1 in 290303 1 in 328690 1 in 441702 1 in 880751 <1 in 1,000,000 <1 in 1,000,000 | 1 in 1078 1 in 1147 1 in 1329 1 in 1877 1 in 2030 1 in 10040 | 1 in 592 1 in 628 1 in 728 1 in 1028 1 in 1112 1 in 1004 | 1 in 1078 1 in 1147 1 in 1329 1 in 1877 1 in 2030 1 in 10040 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

FANCC | Fanconi anemia, complementation group C | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish | 1 in 431 1 in 486 1 in 344 1 in 1025 1 in 1121 1 in 93 | 1 in 1,514 1 in 1710 1 in 1210 1 in 3606 1 in 3944 1 in 9373 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 6056 1 in 6840 1 in 4841 1 in 14426 1 in 15777 1 in 37494 | 1 in 1724 1 in 1944 1 in 1376 1 in 4100 1 in 4484 1 in 375 | 1 in 6056 1 in 6840 1 in 4841 1 in 14426 1 in 15777 1 in 37494 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

FANCG | Fanconi anemia, complementation group G | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 563 1 in 494 1 in 336 1 in 1278 1 in 1864 | 1 in 812 1 in 713 1 in 485 1 in 1844 1 in 2689 | <1 in 1,000,000 <1 in 1,000,000 1 in 651465 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 1 in 939819 <1 in 1,000,000 <1 in 1,000,000 | 1 in 3247 1 in 2851 1 in 1939 1 in 7375 1 in 10756 | 1 in 2252 1 in 1976 1 in 1344 1 in 5112 1 in 7456 | 1 in 3247 1 in 2851 1 in 1939 1 in 7375 1 in 10756 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

FGD1 | Aarskog-Scott syndrome; Mental retardation, X-linked syndromic, type 16 | X-linked | General African/African American East Asian South Asian Latino | 1 in 500000 N/A N/A N/A N/A | 1 in 937,499 N/A N/A N/A N/A | <1 in 1,000,000 N/A N/A N/A N/A | - - - - - | - - - - - | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 | - - - - - | - - - - - |

FH | Fumarase deficiency | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 252 1 in 561 N/A 1 in 3511 1 in 801 | 1 in 1,218 1 in 2720 N/A 1 in 17023 1 in 3884 | <1 in 1,000,000 <1 in 1,000,000 N/A <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 N/A <1 in 1,000,000 <1 in 1,000,000 | 1 in 4872 1 in 10880 N/A 1 in 68092 1 in 15535 | 1 in 1008 1 in 2244 N/A 1 in 14044 1 in 3204 | 1 in 4872 1 in 10880 N/A 1 in 68092 1 in 15535 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

FKRP | Muscular dystrophy-dystroglycanopathy, type 5A (Walker-Warburg syndrome); Type 5B; Type 5C (limb-girdle muscular dystrophy, type 9 [LGMDR9]) | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 176 1 in 452 1 in 196 1 in 2190 1 in 239 | 1 in 310 1 in 799 1 in 346 1 in 3869 1 in 422 | 1 in 218357 <1 in 1,000,000 1 in 271473 <1 in 1,000,000 1 in 403655 | 1 in 384813 <1 in 1,000,000 1 in 479602 <1 in 1,000,000 1 in 713124 | 1 in 1241 1 in 3194 1 in 1385 1 in 15476 1 in 1689 | 1 in 704 1 in 1808 1 in 784 1 in 8760 1 in 956 | 1 in 1241 1 in 3194 1 in 1385 1 in 15476 1 in 1689 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

FKTN | Muscular dystrophy-dystroglycanopathy, type 4A (Walker-Warburg syndrome); Type 4B; Type 4C (limb-girdle muscular dystrophy, type 13 [LGMD R13]) | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish | 1 in 1,023 1 in 736 1 in 288 1 in 854 1 in 382 1 in 131 | 1 in 5,841 1 in 4206 1 in 1646 1 in 4880 1 in 2183 1 in 377 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 193489 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 569086 | 1 in 23364 1 in 16823 1 in 6583 1 in 19520 1 in 8731 1 in 1509 | 1 in 4092 1 in 2944 1 in 1152 1 in 3416 1 in 1528 1 in 513 | 1 in 23364 1 in 16823 1 in 6583 1 in 19520 1 in 8731 1 in 1509 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

FMR1 | Fragile X syndrome | X-linked | General African/African American East Asian South Asian Latino Ashkenazi Jewish | >1 in 368 1 in 268 <1 in 500 1 in 172 1 in 206 1 in 84 | <1 in 37,000 1 in 26800 1 in 222000 1 in 17200 1 in 20600 1 in 8400 | 1 in 146972 1 in 107200 1 in 888000 1 in 68800 1 in 82400 1 in 33600 | - - - - - - | - - - - - - | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 | - - - - - - | - - - - - - |

FOXRED1 | Mitochondrial complex I deficiency, nuclear type 19 | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 439 1 in 482 1 in 180 1 in 145 1 in 2646 | 1 in 822 1 in 904 1 in 338 1 in 272 1 in 4961 | <1 in 1,000,000 <1 in 1,000,000 1 in 243000 1 in 157688 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 1 in 455625 1 in 295664 <1 in 1,000,000 | 1 in 3289 1 in 3615 1 in 1350 1 in 1088 1 in 19845 | 1 in 1756 1 in 1928 1 in 720 1 in 580 1 in 10584 | 1 in 3289 1 in 3615 1 in 1350 1 in 1088 1 in 19845 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

FRAS1 | Fraser syndrome, type 1 | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 300 1 in 111 1 in 156 1 in 174 1 in 259 | 1 in 576 1 in 213 1 in 300 1 in 335 1 in 498 | 1 in 691200 1 in 94777 1 in 187200 1 in 232892 1 in 516008 | <1 in 1,000,000 1 in 182263 1 in 360000 1 in 447870 1 in 992322 | 1 in 2304 1 in 854 1 in 1200 1 in 1338 1 in 1992 | 1 in 1200 1 in 444 1 in 624 1 in 696 1 in 1036 | 1 in 2304 1 in 854 1 in 1200 1 in 1338 1 in 1992 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

FTCD | Glutamate formiminotransferase deficiency | Autosomal recessive | General African/African American East Asian South Asian Latino | 1 in 355 N/A N/A N/A N/A | 1 in 591 N/A N/A N/A N/A | 1 in 839220 N/A N/A N/A N/A | <1 in 1,000,000 N/A N/A N/A N/A | 1 in 2364 N/A N/A N/A N/A | 1 in 1420 N/A N/A N/A N/A | 1 in 2364 N/A N/A N/A N/A | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

FTSJ1 | Mental retardation, X-linked 44 | X-linked | General African/African American East Asian South Asian Latino | 1 in 45,000 N/A N/A N/A N/A | N/A N/A N/A N/A N/A | N/A N/A N/A N/A N/A | - - - - - | - - - - - | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 | - - - - - | - - - - - |

FUCA1 | Fucosidosis | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 1,149 1 in 1233 1 in 2875 1 in 2554 1 in 2032 | 1 in 4,880 1 in 5240 1 in 12219 1 in 10855 1 in 8636 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 19520 1 in 20961 1 in 48875 1 in 43418 1 in 34544 | 1 in 4596 1 in 4932 1 in 11500 1 in 10216 1 in 8128 | 1 in 19520 1 in 20961 1 in 48875 1 in 43418 1 in 34544 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

G6PC | Glycogen storage disease, type 1A | Autosomal recessive | General African/African American East Asian South Asian Latino Ashkenazi Jewish | 1 in 212 1 in 830 1 in 116 1 in 5128 1 in 346 1 in 68 | 1 in 471 1 in 1852 1 in 259 1 in 11439 1 in 772 1 in 3366 | 1 in 399154 <1 in 1,000,000 1 in 120069 <1 in 1,000,000 <1 in 1,000,000 1 in 906357 | 1 in 888101 <1 in 1,000,000 1 in 267846 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 1885 1 in 7406 1 in 1035 1 in 45758 1 in 3087 1 in 13464 | 1 in 847 1 in 3320 1 in 464 1 in 20512 1 in 1384 1 in 269 | 1 in 1885 1 in 7406 1 in 1035 1 in 45758 1 in 3087 1 in 13464 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

G6PC3 | Dursun syndrome | Autosomal recessive | General African/African American East Asian South Asian Latino | <1 in 500 N/A N/A N/A N/A | <1 in 1,170 N/A N/A N/A N/A | <1 in 1,000,000 N/A N/A N/A N/A | <1 in 1,000,000 N/A N/A N/A N/A | 1 in 4666 N/A N/A N/A N/A | 1 in 2002 N/A N/A N/A N/A | 1 in 4666 N/A N/A N/A N/A | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

G6PD | Hemolytic anemia, G6PD deficient (favism) | X-linked | General African/African American East Asian South Asian Latino | 1 in 25 1 in 5 N/A N/A 1 in 19 | <1 in 241 1 in 50 N/A N/A 1 in 190 | 1 in 964 1 in 200 N/A N/A 1 in 760 | - - - - - | - - - - - | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 | - - - - - | - - - - - |

GAA | Glycogen storage disease, type 2 | Autosomal recessive | General African/African American East Asian South Asian Latino Ashkenazi Jewish | 1 in 159 1 in 60 1 in 63 1 in 133 1 in 95 1 in 67 | 1 in 1,577 1 in 600 1 in 630 1 in 1330 1 in 950 1 in 2193 | <1 in 1,000,000 1 in 144000 1 in 158760 1 in 707560 1 in 361000 1 in 577128 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 6309 1 in 2400 1 in 2520 1 in 5320 1 in 3800 1 in 8772 | 1 in 634 1 in 240 1 in 252 1 in 532 1 in 380 1 in 263 | 1 in 6309 1 in 2400 1 in 2520 1 in 5320 1 in 3800 1 in 8772 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

GALC | Krabbe disease | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 67 1 in 119 1 in 40 1 in 35 1 in 181 | 1 in 120 1 in 215 1 in 72 1 in 63 1 in 327 | 1 in 32257 1 in 102441 1 in 11574 1 in 8862 1 in 236994 | 1 in 57948 1 in 185266 1 in 20933 1 in 16026 1 in 428607 | 1 in 481 1 in 861 1 in 289 1 in 253 1 in 1309 | 1 in 268 1 in 476 1 in 160 1 in 140 1 in 724 | 1 in 481 1 in 861 1 in 289 1 in 253 1 in 1309 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

GALE | Galactose epimerase deficiency | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 2,011 1 in 1217 1 in 369 1 in 2541 1 in 2624 | 1 in 9,381 1 in 5679 1 in 1722 1 in 11858 1 in 12245 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 37524 1 in 22717 1 in 6888 1 in 47432 1 in 48981 | 1 in 8044 1 in 4868 1 in 1476 1 in 10164 1 in 10496 | 1 in 37524 1 in 22717 1 in 6888 1 in 47432 1 in 48981 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

GALK1 | Galactokinase deficiency with cataracts | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 747 1 in 388 1 in 723 1 in 400 1 in 663 | 1 in 1,091 1 in 567 1 in 1057 1 in 585 1 in 969 | <1 in 1,000,000 1 in 880103 <1 in 1,000,000 1 in 935385 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 4365 1 in 2268 1 in 4227 1 in 2338 1 in 3876 | 1 in 2988 1 in 1552 1 in 2892 1 in 1600 1 in 2652 | 1 in 4365 1 in 2268 1 in 4227 1 in 2338 1 in 3876 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

GALNS | Mucopolysaccharidosis, type 4A | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 311 1 in 317 1 in 263 1 in 317 1 in 548 | 1 in 657 1 in 671 1 in 557 1 in 671 1 in 1160 | 1 in 817893 1 in 851201 1 in 585902 1 in 851201 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 2630 1 in 2685 1 in 2228 1 in 2685 1 in 4642 | 1 in 1244 1 in 1268 1 in 1052 1 in 1268 1 in 2192 | 1 in 2630 1 in 2685 1 in 2228 1 in 2685 1 in 4642 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

GALT | Galactosemia | Autosomal recessive | General African/African American East Asian South Asian Latino Ashkenazi Jewish | 1 in 102 1 in 94 1 in 208 1 in 342 1 in 219 1 in 145 | 1 in 2,021 1 in 1880 1 in 4160 1 in 6840 1 in 4380 1 in 176 | 1 in 824219 1 in 706880 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 98901 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 123626 | 1 in 8082 1 in 7520 1 in 16640 1 in 27360 1 in 17520 1 in 703 | 1 in 408 1 in 376 1 in 832 1 in 1368 1 in 876 1 in 563 | 1 in 8082 1 in 7520 1 in 16640 1 in 27360 1 in 17520 1 in 703 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

GAMT | Cerebral creatine deficiency syndrome, type 2 | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 435 1 in 545 1 in 1150 1 in 2601 1 in 4223 | 1 in 815 1 in 1022 1 in 2156 1 in 4877 1 in 7918 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 3259 1 in 4088 1 in 8625 1 in 19508 1 in 31673 | 1 in 1740 1 in 2180 1 in 4600 1 in 10404 1 in 16892 | 1 in 3259 1 in 4088 1 in 8625 1 in 19508 1 in 31673 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

GBA | Gaucher disease | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish | 1 in 105 1 in 35 1 in 220 N/A 1 in 120 1 in 16 | 1 in 744 1 in 250 1 in 1571 N/A 1 in 857 1 in 284 | 1 in 312420 1 in 35000 <1 in 1,000,000 N/A 1 in 411429 1 in 17465 | <1 in 1,000,000 1 in 250000 <1 in 1,000,000 N/A <1 in 1,000,000 1 in 323417 | 1 in 2975 1 in 1000 1 in 6286 N/A 1 in 3429 1 in 1137 | 1 in 420 1 in 140 1 in 880 N/A 1 in 480 1 in 61 | 1 in 2975 1 in 1000 1 in 6286 N/A 1 in 3429 1 in 1137 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

GBE1 | Glycogen storage disease, type 4 | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish | 1 in 192 1 in 523 1 in 1282 1 in 417 1 in 222 1 in 62 | 1 in 446 1 in 1219 1 in 2987 1 in 972 1 in 517 1 in 3041 | 1 in 342584 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 459372 1 in 739644 | 1 in 795925 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 1784 1 in 4875 1 in 11949 1 in 3887 1 in 2069 1 in 12163 | 1 in 768 1 in 2092 1 in 5128 1 in 1668 1 in 888 1 in 243 | 1 in 1784 1 in 4875 1 in 11949 1 in 3887 1 in 2069 1 in 12163 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

GCDH | Glutaricaciduria, type 1 | Autosomal recessive | General African/African American East Asian South Asian Latino | 1 in 100 1 in 93 1 in 204 1 in 261 1 in 271 | 1 in 1,981 1 in 1860 1 in 4080 1 in 5220 1 in 5420 | 1 in 792400 1 in 691920 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 7924 1 in 7440 1 in 16320 1 in 20880 1 in 21680 | 1 in 400 1 in 372 1 in 816 1 in 1044 1 in 1084 | 1 in 7924 1 in 7440 1 in 16320 1 in 20880 1 in 21680 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

GCH1 | Hyperphenylalaninemia, BH4-deficient, type B | Autosomal recessive | General African/African American East Asian South Asian Latino | 1 in 250 N/A N/A N/A N/A | 1 in 436 N/A N/A N/A N/A | 1 in 436788 N/A N/A N/A N/A | 1 in 759324 N/A N/A N/A N/A | 1 in 1743 N/A N/A N/A N/A | 1 in 1003 N/A N/A N/A N/A | 1 in 1743 N/A N/A N/A N/A | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

GCSH | ?Glycine encephalopathy | Autosomal recessive | General African/African American East Asian South Asian Latino | N/A N/A N/A N/A N/A | N/A N/A N/A N/A N/A | N/A N/A N/A N/A N/A | N/A N/A N/A N/A N/A | N/A N/A N/A N/A N/A | N/A N/A N/A N/A N/A | N/A N/A N/A N/A N/A | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

GDAP1 | Charcot-Marie-Tooth disease, recessive intermediate, type A | Autosomal recessive | General African/African American East Asian South Asian Latino | 1 in 130 N/A N/A N/A N/A | 1 in 298 N/A N/A N/A N/A | 1 in 154804 N/A N/A N/A N/A | 1 in 354501 N/A N/A N/A N/A | 1 in 1191 N/A N/A N/A N/A | 1 in 520 N/A N/A N/A N/A | 1 in 1191 N/A N/A N/A N/A | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

GDF5 | Chondrodysplasia, Grebe type | Autosomal recessive | General African/African American East Asian South Asian Latino | N/A N/A N/A N/A N/A | N/A N/A N/A N/A N/A | N/A N/A N/A N/A N/A | N/A N/A N/A N/A N/A | N/A N/A N/A N/A N/A | N/A N/A N/A N/A N/A | N/A N/A N/A N/A N/A | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

GFM1 | Combined oxidative phosphorylation deficiency, type 1 | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 480 1 in 515 1 in 1113 1 in 769 1 in 1318 | 1 in 731 1 in 785 1 in 1696 1 in 1172 1 in 2008 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 2924 1 in 3139 1 in 6784 1 in 4687 1 in 8034 | 1 in 1920 1 in 2060 1 in 4452 1 in 3076 1 in 5272 | 1 in 2924 1 in 3139 1 in 6784 1 in 4687 1 in 8034 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

GHRHR | Growth hormone deficiency, isolated, type 1B | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 50 1 in 50 N/A N/A 1 in 50 | 1 in 83 1 in 83 N/A N/A 1 in 83 | 1 in 16533 1 in 16667 N/A N/A 1 in 16667 | 1 in 27335 1 in 27778 N/A N/A 1 in 27778 | 1 in 331 1 in 333 N/A N/A 1 in 333 | 1 in 200 1 in 200 N/A N/A 1 in 200 | 1 in 331 1 in 333 N/A N/A 1 in 333 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

GJB1 | Charcot-Marie-Tooth neuropathy, X-linked dominant, type 1 | X-linked | General African/African American East Asian South Asian Latino | 1 in 15,161 N/A N/A N/A N/A | 1 in 44,254 N/A N/A N/A N/A | 1 in 177017 N/A N/A N/A N/A | - - - - - | - - - - - | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 | - - - - - | - - - - - |

GJB2 | Deafness, autosomal recessive, type 1A; Deafness, digenic, GJB2/GJB6 | Autosomal recessive; Digenic inheritance (GJB6 gene) | Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish | 1 in 40 1 in 37 N/A 1 in 58 1 in 100 1 in 21 | 1 in 489 1 in 463 N/A 1 in 725 1 in 1250 1 in 2100 | 1 in 78160 1 in 68450 N/A 1 in 168200 1 in 500000 1 in 176400 | 1 in 954529 1 in 855625 N/A <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 1954 1 in 1850 N/A 1 in 2900 1 in 5000 1 in 8400 | 1 in 160 1 in 148 N/A 1 in 232 1 in 400 1 in 84 | 1 in 1954 1 in 1850 N/A 1 in 2900 1 in 5000 1 in 8400 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

GJB6 | Deafness, autosomal recessive, type 1B; Deafness, digenic GJB2/GJB6 | Autosomal recessive; Digenic inheritance (GJB2 gene) | Caucasian/European African/African American East Asian South Asian Latino | 1 in 421 1 in 2161 1 in 214 1 in 1531 1 in 1626 | 1 in 42,000 1 in 216100 1 in 21400 1 in 153100 1 in 162600 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 168004 1 in 864400 1 in 85600 1 in 612400 1 in 650400 | 1 in 1684 1 in 8644 1 in 856 1 in 6124 1 in 6504 | 1 in 168004 1 in 864400 1 in 85600 1 in 612400 1 in 650400 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

GLA | Fabry disease | X-linked | General African/African American East Asian South Asian Latino | 1 in 35,031 1 in 50000 N/A N/A 1 in 50000 | <1 in 217,000 1 in 309593 N/A N/A 1 in 309593 | 1 in 867596 <1 in 1,000,000 N/A N/A <1 in 1,000,000 | - - - - - | - - - - - | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 | - - - - - | - - - - - |

GLB1 | GM1-gangliosidosis, types 1-3; Mucopolysaccharidosis, type 4B (Morquio) | Autosomal recessive | General African/African American East Asian South Asian Latino | 1 in 277 1 in 356 1 in 305 1 in 285 1 in 431 | 1 in 1,320 1 in 1701 1 in 1457 1 in 1362 1 in 2059 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 5279 1 in 6804 1 in 5829 1 in 5447 1 in 8237 | 1 in 1108 1 in 1424 1 in 1220 1 in 1140 1 in 1724 | 1 in 5279 1 in 6804 1 in 5829 1 in 5447 1 in 8237 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

GLDC | Glycine encephalopathy | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 255 1 in 515 1 in 137 1 in 570 1 in 323 | 1 in 509 1 in 1030 1 in 274 1 in 1140 1 in 646 | 1 in 519180 <1 in 1,000,000 1 in 150152 <1 in 1,000,000 1 in 834632 | <1 in 1,000,000 <1 in 1,000,000 1 in 300304 <1 in 1,000,000 <1 in 1,000,000 | 1 in 2036 1 in 4120 1 in 1096 1 in 4560 1 in 2584 | 1 in 1020 1 in 2060 1 in 548 1 in 2280 1 in 1292 | 1 in 2036 1 in 4120 1 in 1096 1 in 4560 1 in 2584 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

GLE1 | Lethal congenital contracture syndrome, type 1; Congenital arthrogryposis with anterior horn cell disease | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 453 1 in 1148 1 in 2302 1 in 669 1 in 1201 | 1 in 582 1 in 1476 1 in 2960 1 in 860 1 in 1544 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 2329 1 in 5904 1 in 11839 1 in 3441 1 in 6177 | 1 in 1812 1 in 4592 1 in 9208 1 in 2676 1 in 4804 | 1 in 2329 1 in 5904 1 in 11839 1 in 3441 1 in 6177 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

GNE | Inclusion body myopathy, type 2 (Nonaka myopathy) | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish | 1 in 279 1 in 379 1 in 271 1 in 36 1 in 765 <1 in 500 | 1 in 1,593 1 in 2171 1 in 1552 1 in 206 1 in 4381 1 in 5470 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 29690 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 170044 <1 in 1,000,000 <1 in 1,000,000 | 1 in 6373 1 in 8683 1 in 6208 1 in 825 1 in 17525 1 in 21880 | 1 in 1116 1 in 1516 1 in 1084 1 in 144 1 in 3060 1 in 6564 | 1 in 6373 1 in 8683 1 in 6208 1 in 825 1 in 17525 1 in 21880 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

GNMT | Glycine N-methyltransferase deficiency | Autosomal recessive | General African/African American East Asian South Asian Latino | 1 in 500 N/A N/A N/A N/A | 1 in 24,951 N/A N/A N/A N/A | <1 in 1,000,000 N/A N/A N/A N/A | <1 in 1,000,000 N/A N/A N/A N/A | 1 in 99804 N/A N/A N/A N/A | 1 in 2000 N/A N/A N/A N/A | 1 in 99804 N/A N/A N/A N/A | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

GNPTAB | Mucolipidosis 2 alpha/beta; Mucolipidosis 3 alpha/beta | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 176 1 in 328 1 in 368 1 in 321 1 in 287 | 1 in 17,522 1 in 32800 1 in 36800 1 in 32100 1 in 28700 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 70090 1 in 131200 1 in 147200 1 in 128400 1 in 114800 | 1 in 705 1 in 1312 1 in 1472 1 in 1284 1 in 1148 | 1 in 70090 1 in 131200 1 in 147200 1 in 128400 1 in 114800 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

GNPTG | Mucolipidosis III gamma | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 684 1 in 486 1 in 2133 1 in 1398 1 in 735 | 1 in 2,232 1 in 1588 1 in 6968 1 in 4567 1 in 2401 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 8929 1 in 6350 1 in 27871 1 in 18267 1 in 9604 | 1 in 2736 1 in 1944 1 in 8532 1 in 5592 1 in 2940 | 1 in 8929 1 in 6350 1 in 27871 1 in 18267 1 in 9604 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

GNRHR | Hypogonadotropic hypogonadism, type 7, without anosmia | Autosomal recessive | General African/African American East Asian South Asian Latino | 1 in 500 N/A N/A N/A N/A | 1 in 2,097 N/A N/A N/A N/A | <1 in 1,000,000 N/A N/A N/A N/A | <1 in 1,000,000 N/A N/A N/A N/A | 1 in 8387 N/A N/A N/A N/A | 1 in 2000 N/A N/A N/A N/A | 1 in 8387 N/A N/A N/A N/A | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

GNS | Mucopolysaccharidosis, type 3D (Sanfilippo syndrome D) | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 2,731 1 in 793 1 in 4588 1 in 4145 1 in 4197 | 1 in 273,001 1 in 79300 1 in 458800 1 in 414500 1 in 419700 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 1092004 1 in 317200 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 10924 1 in 3172 1 in 18352 1 in 16580 1 in 16788 | 1 in 1092004 1 in 317200 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

GP1BA | Bernard-Soulier syndrome, type A1 | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 1,677 1 in 2035 1 in 1725 N/A 1 in 4198 | 1 in 3,074 1 in 3731 1 in 3163 N/A 1 in 7696 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 N/A <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 N/A <1 in 1,000,000 | 1 in 12295 1 in 14923 1 in 12650 N/A 1 in 30785 | 1 in 6708 1 in 8140 1 in 6900 N/A 1 in 16792 | 1 in 12295 1 in 14923 1 in 12650 N/A 1 in 30785 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

GP1BB | Bernard-Soulier syndrome, type B | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 500 1 in 500 N/A N/A 1 in 500 | 1 in 531 1 in 556 N/A N/A 1 in 556 | <1 in 1,000,000 <1 in 1,000,000 N/A N/A <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 N/A N/A <1 in 1,000,000 | 1 in 2125 1 in 2222 N/A N/A 1 in 2222 | 1 in 2000 1 in 2000 N/A N/A 1 in 2000 | 1 in 2125 1 in 2222 N/A N/A 1 in 2222 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

GP9 | Bernard-Soulier syndrome, type C | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 451 1 in 500 N/A 1 in 848 1 in 500 | 1 in 1,576 1 in 1750 N/A 1 in 2968 1 in 1750 | <1 in 1,000,000 <1 in 1,000,000 N/A <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 N/A <1 in 1,000,000 <1 in 1,000,000 | 1 in 6304 1 in 7000 N/A 1 in 11872 1 in 7000 | 1 in 1804 1 in 2000 N/A 1 in 3392 1 in 2000 | 1 in 6304 1 in 7000 N/A 1 in 11872 1 in 7000 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

GPR143 | Ocular albinism, type 1 (Nettleship-Falls type) | X-linked | General African/African American East Asian South Asian Latino | 1 in 42,858 N/A N/A N/A N/A | <1 in 48,000 N/A N/A N/A N/A | 1 in 192079 N/A N/A N/A N/A | - - - - - | - - - - - | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 | - - - - - | - - - - - |

GRHPR | Hyperoxaluria, primary, type 2 | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 433 1 in 605 1 in 681 1 in 327 1 in 1881 | 1 in 43,201 1 in 60500 1 in 68100 1 in 32700 1 in 188100 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 172804 1 in 242000 1 in 272400 1 in 130800 1 in 752400 | 1 in 1732 1 in 2420 1 in 2724 1 in 1308 1 in 7524 | 1 in 172804 1 in 242000 1 in 272400 1 in 130800 1 in 752400 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

GSS | Glutathione synthetase deficiency | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 992 1 in 618 1 in 297 1 in 1703 1 in 49 | 1 in 2,974 1 in 1854 1 in 891 1 in 5109 1 in 147 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 28812 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 86436 | 1 in 11896 1 in 7416 1 in 3564 1 in 20436 1 in 588 | 1 in 3968 1 in 2472 1 in 1188 1 in 6812 1 in 196 | 1 in 11896 1 in 7416 1 in 3564 1 in 20436 1 in 588 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

GUCY2D | Leber congenital amaurosis, type 1 | Autosomal recessive | General African/African American East Asian South Asian Latino | 1 in 248 N/A N/A N/A N/A | 1 in 305 N/A N/A N/A N/A | 1 in 302560 N/A N/A N/A N/A | 1 in 372100 N/A N/A N/A N/A | 1 in 1220 N/A N/A N/A N/A | 1 in 992 N/A N/A N/A N/A | 1 in 1220 N/A N/A N/A N/A | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

GUSB | Mucopolysaccharidosis, type 7 | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 552 1 in 685 1 in 1760 1 in 914 1 in 463 | 1 in 1,6531 1 in 20550 1 in 52800 1 in 27420 1 in 13890 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 66124 1 in 82200 1 in 211200 1 in 109680 1 in 55560 | 1 in 2208 1 in 2740 1 in 7040 1 in 3656 1 in 1852 | 1 in 66124 1 in 82200 1 in 211200 1 in 109680 1 in 55560 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

HADH | 3-hydroxyacyl-CoA dehydrogenase deficiency | Autosomal recessive | General African/African American East Asian South Asian Latino | 1 in 415 N/A N/A N/A N/A | 1 in 622 N/A N/A N/A N/A | <1 in 1,000,000 N/A N/A N/A N/A | <1 in 1,000,000 N/A N/A N/A N/A | 1 in 2486 N/A N/A N/A N/A | 1 in 1659 N/A N/A N/A N/A | 1 in 2486 N/A N/A N/A N/A | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

HADHA | Long-chain 3-hydroxyl-CoA dehydrogenase (LCHAD) deficiency; Mitochondrial trifunctional protein deficiency | Autosomal recessive | General African/African American East Asian South Asian Latino | 1 in 251 1 in 482 1 in 1006 1 in 733 1 in 407 | 1 in 833 1 in 1607 1 in 3353 1 in 2443 1 in 1357 | 1 in 834339 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 3331 1 in 6427 1 in 13413 1 in 9773 1 in 5427 | 1 in 1002 1 in 1928 1 in 4024 1 in 2932 1 in 1628 | 1 in 3331 1 in 6427 1 in 13413 1 in 9773 1 in 5427 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

HADHB | Mitochondrial trifunctional protein deficiency | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 1,379 1 in 827 1 in 742 1 in 1033 1 in 1095 | 1 in 3,008 1 in 1804 1 in 1619 1 in 2254 1 in 2389 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 12030 1 in 7217 1 in 6476 1 in 9015 1 in 9556 | 1 in 5516 1 in 3308 1 in 2968 1 in 4132 1 in 4380 | 1 in 12030 1 in 7217 1 in 6476 1 in 9015 1 in 9556 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

HAX1 | Neutropenia, severe congenital, type 3, autosomal recessive | Autosomal recessive | General African/African American East Asian South Asian Latino | 1 in 219 1 in 800 1 in 1263 1 in 5130 1 in 2798 | 1 in 306 1 in 1120 1 in 1768 1 in 7182 1 in 3917 | 1 in 267195 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 373584 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 1222 1 in 4480 1 in 7073 1 in 28728 1 in 15669 | 1 in 874 1 in 3200 1 in 5052 1 in 20520 1 in 11192 | 1 in 1222 1 in 4480 1 in 7073 1 in 28728 1 in 15669 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

HBA1 | Thalassemia, alpha- | Autosomal recessive | Caucasian/European African/African American Asian Latino Ashkenazi Jewish | 1 in 30 1 in 30 1 in 20 N/A N/A | 1 in 194 1 in 300 1 in 400 N/A N/A | 1 in 23320 1 in 36000 1 in 32000 N/A N/A | 1 in 151062 1 in 360000 1 in 640000 N/A N/A | 1 in 777 1 in 1200 1 in 1600 N/A N/A | 1 in 120 1 in 120 1 in 80 N/A N/A | 1 in 777 1 in 1200 1 in 1600 N/A N/A | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

HBA2 | Thalassemia, alpha- | Autosomal recessive | Caucasian/European African/African American Asian Latino | 1 in 30 1 in 30 1 in 20 N/A | 1 in 194 1 in 300 1 in 400 N/A | 1 in 23320 1 in 36000 1 in 32000 N/A | 1 in 151062 1 in 360000 1 in 640000 N/A | 1 in 777 1 in 1200 1 in 1600 N/A | 1 in 120 1 in 120 1 in 80 N/A | 1 in 777 1 in 1200 1 in 1600 N/A | 1 in 4 1 in 4 1 in 4 1 in 4 |

HBB | HBB-related hemoglobinopathy | Autosomal recessive | Caucasian/European African/African American (Sickle cell anemia) East Asian (b-thalassemia) South Asian (b-thalassemia) Latino Ashkenazi Jewish | 1 in 67 1 in 11 1 in 87 1 in 25 1 in 128 Varied | 1 in 411 1 in 220 1 in 1020 1 in 500 1 in 1280 N/A | 1 in 109711 1 in 9680 1 in 208080 1 in 50000 1 in 655360 N/A | 1 in 677055 1 in 193600 <1 in 1,000,000 1 in 1000000 <1 in 1,000,000 N/A | 1 in 1646 1 in 880 1 in 4080 1 in 2000 1 in 5120 N/A | 1 in 267 1 in 44 1 in 204 1 in 100 1 in 512 N/A | 1 in 1646 1 in 880 1 in 4080 1 in 2000 1 in 5120 N/A | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

HCFC1 | Mental retardation, X-linked 3 (methylmalonic acidemia and homocysteinemia, cblX type ) | X-linked | General African/African American East Asian South Asian Latino | 1 in 500,000 N/A N/A N/A N/A | N/A N/A N/A N/A N/A | N/A N/A N/A N/A N/A | - - - - - | - - - - - | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 | - - - - - | - - - - - |

HEXA | Tay-Sachs disease | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish | 1 in 90 1 in 216 1 in 210 1 in 416 1 in 243 1 in 26 | 1 in 743 1 in 1800 1 in 1750 1 in 3467 1 in 2025 1 in 519 | 1 in 267360 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 53920 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 2971 1 in 7200 1 in 7000 1 in 13867 1 in 8100 1 in 2077 | 1 in 360 1 in 864 1 in 840 1 in 1664 1 in 972 1 in 104 | 1 in 2971 1 in 7200 1 in 7000 1 in 13867 1 in 8100 1 in 2077 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

HEXB | Sandhoff disease, infantile, juvenile, and adult forms | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 202 1 in 895 1 in 385 1 in 513 1 in 248 | 1 in 743 1 in 3305 1 in 1422 1 in 1894 1 in 916 | 1 in 600468 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 908367 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 2973 1 in 13218 1 in 5686 1 in 7577 1 in 3663 | 1 in 808 1 in 3580 1 in 1540 1 in 2052 1 in 992 | 1 in 2973 1 in 13218 1 in 5686 1 in 7577 1 in 3663 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

HGD | Alkaptonuria | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 250 N/A N/A N/A N/A | 1 in 1,708 N/A N/A N/A N/A | <1 in 1,000,000 N/A N/A N/A N/A | <1 in 1,000,000 N/A N/A N/A N/A | 1 in 6834 N/A N/A N/A N/A | 1 in 1000 N/A N/A N/A N/A | 1 in 6834 N/A N/A N/A N/A | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

HGSNAT | Mucopolysaccharidosis type 3C (Sanfilippo syndrome C) | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 345 1 in 604 1 in 836 1 in 1483 1 in 922 | 1 in 809 1 in 1418 1 in 1963 1 in 3482 1 in 2165 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 3235 1 in 5672 1 in 7851 1 in 13927 1 in 8659 | 1 in 1380 1 in 2416 1 in 3344 1 in 5932 1 in 3688 | 1 in 3235 1 in 5672 1 in 7851 1 in 13927 1 in 8659 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

HJV | Hemochromatosis, type 2A | Autosomal recessive | General African/African American East Asian South Asian Latino | 1 in 1,894 1 in 3456 1 in 2225 1 in 766 1 in 1865 | N/A N/A N/A N/A N/A | N/A N/A N/A N/A N/A | N/A N/A N/A N/A N/A | N/A N/A N/A N/A N/A | 1 in 7576 1 in 13824 1 in 8900 1 in 3064 1 in 7460 | N/A N/A N/A N/A N/A | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

HLCS | Holocarboxylase synthetase deficiency | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 703 1 in 570 1 in 342 1 in 1099 1 in 706 | 1 in 2,185 1 in 1773 1 in 1064 1 in 3419 1 in 2196 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 8740 1 in 7093 1 in 4256 1 in 13676 1 in 8786 | 1 in 2812 1 in 2280 1 in 1368 1 in 4396 1 in 2824 | 1 in 8740 1 in 7093 1 in 4256 1 in 13676 1 in 8786 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

HMGCL | HMG-CoA lyase deficiency | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 875 1 in 964 1 in 2253 1 in 1283 1 in 1123 | 1 in 2,623 1 in 2892 1 in 6759 1 in 3849 1 in 3369 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 10492 1 in 11568 1 in 27036 1 in 15396 1 in 13476 | 1 in 3500 1 in 3856 1 in 9012 1 in 5132 1 in 4492 | 1 in 10492 1 in 11568 1 in 27036 1 in 15396 1 in 13476 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

HMOX1 | Heme oxygenase-1 deficiency | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 500 N/A N/A N/A N/A | N/A N/A N/A N/A N/A | N/A N/A N/A N/A N/A | N/A N/A N/A N/A N/A | N/A N/A N/A N/A N/A | 1 in 2000 N/A N/A N/A N/A | N/A N/A N/A N/A N/A | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

HOGA1 | Hyperoxaluria, primary, type 3 | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish | 1 in 169 1 in 267 1 in 182 1 in 265 1 in 287 1 in 37 | 1 in 309 1 in 490 1 in 334 1 in 486 1 in 526 1 in 1233 | 1 in 208884 1 in 522786 1 in 242909 1 in 514983 1 in 604039 1 in 182533 | 1 in 381924 1 in 958441 1 in 445334 1 in 944136 <1 in 1,000,000 <1 in 1,000,000 | 1 in 1236 1 in 1958 1 in 1335 1 in 1943 1 in 2105 1 in 4933 | 1 in 676 1 in 1068 1 in 728 1 in 1060 1 in 1148 1 in 148 | 1 in 1236 1 in 1958 1 in 1335 1 in 1943 1 in 2105 1 in 4933 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

HPD | Tyrosinemia, type 3 | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 2,453 1 in 5764 1 in 9196 1 in 1026 1 in 4064 | 1 in 5,518 1 in 12969 1 in 20691 1 in 2309 1 in 9144 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 22072 1 in 51876 1 in 82764 1 in 9234 1 in 36576 | 1 in 9812 1 in 23056 1 in 36784 1 in 4104 1 in 16256 | 1 in 22072 1 in 51876 1 in 82764 1 in 9234 1 in 36576 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

HPRT1 | Lesch-Nyhan syndrome | X-linked | General African/African American East Asian South Asian Latino | 1 in 145,204 N/A N/A N/A N/A | 1 in 382,808 N/A N/A N/A N/A | <1 in 1,000,000 N/A N/A N/A N/A | - - - - - | - - - - - | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 | - - - - - | - - - - - |

HPS1 | Hermansky-Pudlak syndrome, type 1 | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 493 1 in 906 1 in 2863 1 in 1539 1 in 999 | 1 in 1,448 1 in 2665 1 in 8421 1 in 4526 1 in 2938 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 5792 1 in 10659 1 in 33682 1 in 18106 1 in 11753 | 1 in 1972 1 in 3624 1 in 11452 1 in 6156 1 in 3996 | 1 in 5792 1 in 10659 1 in 33682 1 in 18106 1 in 11753 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

HPS3 | Hermansky-Pudlak syndrome, type 3 | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish | 1 in 491 1 in 799 1 in 219 1 in 393 1 in 3365 1 in 248 | 1 in 589 1 in 959 1 in 263 1 in 472 1 in 4038 1 in 24954 | <1 in 1,000,000 <1 in 1,000,000 1 in 230213 1 in 741355 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 1 in 276255 1 in 889626 <1 in 1,000,000 <1 in 1,000,000 | 1 in 2356 1 in 3835 1 in 1051 1 in 1886 1 in 16152 1 in 99816 | 1 in 1964 1 in 3196 1 in 876 1 in 1572 1 in 13460 1 in 998 | 1 in 2356 1 in 3835 1 in 1051 1 in 1886 1 in 16152 1 in 99816 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

HSD17B10 | HSD10 mitochondrial disease | X-linked | General African/African American East Asian South Asian Latino | 1 in 500,000 N/A N/A N/A N/A | 1 in 1,000,000 N/A N/A N/A N/A | <1 in 1,000,000 N/A N/A N/A N/A | - - - - - | - - - - - | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 | - - - - - | - - - - - |

HSD17B3 | 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency | Autosomal recessive | General African/African American East Asian South Asian Latino | <1 in 500 N/A N/A N/A N/A | <1 in 2,750 N/A N/A N/A N/A | <1 in 1,000,000 N/A N/A N/A N/A | <1 in 1,000,000 N/A N/A N/A N/A | 1 in 10993 N/A N/A N/A N/A | 1 in 2002 N/A N/A N/A N/A | 1 in 10993 N/A N/A N/A N/A | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

HSD17B4 | D-bifunctional protein deficiency | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 534 1 in 375 1 in 516 1 in 1282 1 in 1123 | 1 in 11,727 1 in 8250 1 in 11352 1 in 28204 1 in 24706 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 46908 1 in 33000 1 in 45408 1 in 112816 1 in 98824 | 1 in 2136 1 in 1500 1 in 2064 1 in 5128 1 in 4492 | 1 in 46908 1 in 33000 1 in 45408 1 in 112816 1 in 98824 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

HSD3B2 | Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 862 1 in 2853 1 in 2258 1 in 1183 1 in 1151 | 1 in 1,831 1 in 6063 1 in 4798 1 in 2514 1 in 2446 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 7323 1 in 24251 1 in 19193 1 in 10056 1 in 9784 | 1 in 3448 1 in 11412 1 in 9032 1 in 4732 1 in 4604 | 1 in 7323 1 in 24251 1 in 19193 1 in 10056 1 in 9784 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

HSPG2 | Dyssegmental dysplasia, Silverman-Handmaker type | Autosomal recessive | General African/African American East Asian South Asian Latino | <1 in 500 N/A N/A N/A N/A | <1 in 1,625 N/A N/A N/A N/A | <1 in 1,000,000 N/A N/A N/A N/A | <1 in 1,000,000 N/A N/A N/A N/A | 1 in 6498 N/A N/A N/A N/A | 1 in 2002 N/A N/A N/A N/A | 1 in 6498 N/A N/A N/A N/A | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

HYAL1 | ?Mucopolysaccharidosis, type 9 | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 2,811 1 in 1708 1 in 2296 1 in 1691 1 in 2692 | N/A N/A N/A N/A N/A | N/A N/A N/A N/A N/A | N/A N/A N/A N/A N/A | N/A N/A N/A N/A N/A | 1 in 11244 1 in 6832 1 in 9184 1 in 6764 1 in 10768 | N/A N/A N/A N/A N/A | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

HYLS1 | Hydrolethalus syndrome | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 522 1 in 1092 1 in 2959 1 in 2199 1 in 885 | 1 in 587 1 in 1229 1 in 3329 1 in 2474 1 in 996 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 2349 1 in 4914 1 in 13316 1 in 9896 1 in 3983 | 1 in 2088 1 in 4368 1 in 11836 1 in 8796 1 in 3540 | 1 in 2349 1 in 4914 1 in 13316 1 in 9896 1 in 3983 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

IDH3B | Retinitis pigmentosa, type 46 | Autosomal recessive | General African/African American East Asian South Asian Latino | 1 in 500 N/A N/A N/A N/A | 1 in 999 N/A N/A N/A N/A | <1 in 1,000,000 N/A N/A N/A N/A | <1 in 1,000,000 N/A N/A N/A N/A | 1 in 3996 N/A N/A N/A N/A | 1 in 2000 N/A N/A N/A N/A | 1 in 3996 N/A N/A N/A N/A | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

IDS | Mucopolysaccharidosis, type 2 | X-linked | Caucasian/European African/African American East Asian South Asian Latino | 1 in 38,000 1 in 100000 1 in 24000 N/A 1 in 100000 | 1 in 90,827 1 in 239022 1 in 57365 N/A 1 in 239022 | 1 in 363307 1 in 956087 1 in 229461 N/A 1 in 956087 | - - - - - | - - - - - | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 | - - - - - | - - - - - |

IDUA | Mucopolysaccharidosis type 1 | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 153 1 in 376 1 in 236 1 in 114 1 in 416 | 1 in 340 1 in 838 1 in 526 1 in 254 1 in 927 | 1 in 207844 <1 in 1,000,000 1 in 496301 1 in 115806 <1 in 1,000,000 | 1 in 461350 <1 in 1,000,000 <1 in 1,000,000 1 in 257984 <1 in 1,000,000 | 1 in 1358 1 in 3350 1 in 2103 1 in 1016 1 in 3707 | 1 in 612 1 in 1504 1 in 944 1 in 456 1 in 1664 | 1 in 1358 1 in 3350 1 in 2103 1 in 1016 1 in 3707 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

IGHMBP2 | Charcot-Marie-Tooth disease, axonal, type 2S | Autosomal recessive | General African/African American East Asian South Asian Latino | <1 in 500 N/A N/A N/A N/A | <1 in 4,000 N/A N/A N/A N/A | <1 in 1,000,000 N/A N/A N/A N/A | <1 in 1,000,000 N/A N/A N/A N/A | 1 in 15988 N/A N/A N/A N/A | 1 in 2002 N/A N/A N/A N/A | 1 in 15988 N/A N/A N/A N/A | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

IL1RAPL1 | Mental retardation, X-linked, type 21/34 | X-linked | General African/African American East Asian South Asian Latino | 1 in 45,000 N/A N/A N/A N/A | 1 in 90,000 N/A N/A N/A N/A | 1 in 359996 N/A N/A N/A N/A | - - - - - | - - - - - | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 | - - - - - | - - - - - |

IL2RG | Severe combined immunodeficiency, X-linked | X-linked | General African/African American East Asian South Asian Latino | 1 in 33,334 N/A N/A N/A N/A | <1 in 84,000 N/A N/A N/A N/A | 1 in 334228 N/A N/A N/A N/A | - - - - - | - - - - - | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 | - - - - - | - - - - - |

IVD | Isovaleric acidemia | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 115 1 in 100 1 in 901 1 in 733 1 in 532 | 1 in 1,749 1 in 1533 1 in 13815 1 in 11239 1 in 8157 | 1 in 804540 1 in 613333 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 6996 1 in 6133 1 in 55261 1 in 44957 1 in 32629 | 1 in 460 1 in 400 1 in 3604 1 in 2932 1 in 2128 | 1 in 6996 1 in 6133 1 in 55261 1 in 44957 1 in 32629 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

IYD | Thyroid dyshormonogenesis, type 4 | Autosomal recessive | General African/African American East Asian South Asian Latino | 1 in 159 N/A N/A N/A N/A | 1 in 633 N/A N/A N/A N/A | 1 in 402588 N/A N/A N/A N/A | <1 in 1,000,000 N/A N/A N/A N/A | 1 in 2532 N/A N/A N/A N/A | 1 in 636 N/A N/A N/A N/A | 1 in 2532 N/A N/A N/A N/A | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

JAK3 | Severe Combined Immunodeficiency, autosomal recessive, T-negative/B-positive type | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 475 1 in 174 1 in 1661 1 in 686 1 in 803 | 1 in 732 1 in 268 1 in 2561 1 in 1058 1 in 1238 | <1 in 1,000,000 1 in 186702 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 1 in 287832 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 2927 1 in 1073 1 in 10243 1 in 4230 1 in 4952 | 1 in 1900 1 in 696 1 in 6644 1 in 2744 1 in 3212 | 1 in 2927 1 in 1073 1 in 10243 1 in 4230 1 in 4952 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

KCNJ11 | Hyperinsulinemic hypoglycemia, type 2 (congenital hyperinsulinism); Permanent neonatal diabetes mellitus (PNDM) | Autosomal recessive; Autosomal recessive* | Caucasian/European African/African American East Asian South Asian Latino | 1 in 232 1 in 2899 1 in 420 1 in 1924 1 in 773 | 1 in 478 1 in 5985 1 in 867 1 in 3972 1 in 1596 | 1 in 443494 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 913566 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 1912 1 in 23940 1 in 3468 1 in 15889 1 in 6383 | 1 in 928 1 in 11596 1 in 1680 1 in 7696 1 in 3092 | 1 in 1912 1 in 23940 1 in 3468 1 in 15889 1 in 6383 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

KDM5C | Mental retardation, X-linked, syndromic, Claes-Jensen type | X-linked | General African/African American East Asian South Asian Latino | 1 in 500,000 N/A N/A N/A N/A | 1 in 1,000,000 N/A N/A N/A N/A | <1 in 1,000,000 N/A N/A N/A N/A | - - - - - | - - - - - | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 | - - - - - | - - - - - |

L1CAM | L1 Syndrome | X-linked | General African/African American East Asian South Asian Latino | 1 in 15,000 N/A N/A N/A N/A | <1 in 49,000 N/A N/A N/A N/A | 1 in 196259 N/A N/A N/A N/A | - - - - - | - - - - - | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 | - - - - - | - - - - - |

LAMA2 | LAMA2-related muscular dystrophy | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 125 1 in 159 <1 in 610 1 in 306 1 in 114 | 1 in 656 1 in 840 1 in 3224 1 in 1617 1 in 603 | 1 in 328214 1 in 534513 <1 in 1,000,000 <1 in 1,000,000 1 in 274773 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 2626 1 in 3362 1 in 12897 1 in 6470 1 in 2410 | 1 in 500 1 in 636 1 in 2440 1 in 1224 1 in 456 | 1 in 2626 1 in 3362 1 in 12897 1 in 6470 1 in 2410 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

LAMA3 | Junctional epidermolysis bullosa (JEB) Herlitz type; JEB non-Herlitz type | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 606 1 in 782 1 in 495 1 in 810 1 in 1416 | 1 in 60,501 1 in 78200 1 in 49500 1 in 81000 1 in 141600 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 242004 1 in 312800 1 in 198000 1 in 324000 1 in 566400 | 1 in 2424 1 in 3128 1 in 1980 1 in 3240 1 in 5664 | 1 in 242004 1 in 312800 1 in 198000 1 in 324000 1 in 566400 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

LAMB3 | Junctional epidermolysis bullosa (JEB) Herlitz type; JEB non-Herlitz type | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 222 1 in 268 1 in 877 1 in 629 1 in 1122 | 1 in 22,101 1 in 26800 1 in 87700 1 in 62900 1 in 112200 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 88404 1 in 107200 1 in 350800 1 in 251600 1 in 448800 | 1 in 888 1 in 1072 1 in 3508 1 in 2516 1 in 4488 | 1 in 88404 1 in 107200 1 in 350800 1 in 251600 1 in 448800 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

LAMC2 | Junctional epidermolysis bullosa (JEB) Herlitz type; JEB non-Herlitz type | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 772 1 in 823 1 in 285 1 in 1707 1 in 4197 | 1 in 5,949 1 in 6349 1 in 2199 1 in 13168 1 in 32377 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 23795 1 in 25395 1 in 8794 1 in 52673 1 in 129507 | 1 in 3088 1 in 3292 1 in 1140 1 in 6828 1 in 16788 | 1 in 23795 1 in 25395 1 in 8794 1 in 52673 1 in 129507 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

LARGE1 | Muscular dystrophy-dystroglycanopathy, type 6A and 6B | Autosomal recessive | General African/African American East Asian South Asian Latino | 1 in 123 N/A N/A N/A N/A | 1 in 287 N/A N/A N/A N/A | 1 in 141663 N/A N/A N/A N/A | 1 in 329017 N/A N/A N/A N/A | 1 in 1147 N/A N/A N/A N/A | 1 in 494 N/A N/A N/A N/A | 1 in 1147 N/A N/A N/A N/A | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

LCA5 | Leber congenital amaurosis, type 5 | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 1,811 1 in 1862 1 in 1310 1 in 1899 1 in 8124 | 1 in 2,237 1 in 2300 1 in 1618 1 in 2346 1 in 10036 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 8948 1 in 9200 1 in 6473 1 in 9383 1 in 40142 | 1 in 7244 1 in 7448 1 in 5240 1 in 7596 1 in 32496 | 1 in 8948 1 in 9200 1 in 6473 1 in 9383 1 in 40142 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

LHCGR | Leydig cell hypoplasia | Autosomal recessive | General African/African American East Asian South Asian Latino | <1 in 500 N/A N/A N/A N/A | <1 in 1,060 N/A N/A N/A N/A | <1 in 1,000,000 N/A N/A N/A N/A | <1 in 1,000,000 N/A N/A N/A N/A | 1 in 4250 N/A N/A N/A N/A | 1 in 2002 N/A N/A N/A N/A | 1 in 4250 N/A N/A N/A N/A | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

LHX3 | Pituitary hormone deficiency, combined, type 3 | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 1,398 N/A 1 in 1210 N/A N/A | 1 in 9,780 N/A 1 in 8470 N/A N/A | <1 in 1,000,000 N/A <1 in 1,000,000 N/A N/A | <1 in 1,000,000 N/A <1 in 1,000,000 N/A N/A | 1 in 39120 N/A 1 in 33880 N/A N/A | 1 in 5592 N/A 1 in 4840 N/A N/A | 1 in 39120 N/A 1 in 33880 N/A N/A | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

LIFR | Stuve-Wiedemann syndrome / Schwartz-Jampel type 2 syndrome | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 848 1 in 1444 1 in 1719 1 in 512 1 in 1670 | 1 in 2,881 1 in 4910 1 in 5845 1 in 1741 1 in 5678 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 11523 1 in 19638 1 in 23378 1 in 6963 1 in 22712 | 1 in 3392 1 in 5776 1 in 6876 1 in 2048 1 in 6680 | 1 in 11523 1 in 19638 1 in 23378 1 in 6963 1 in 22712 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

LIPA | Lysosomal acid lipase deficiency | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish Sephardic Jewish | 1 in 112 1 in 565 1 in 635 1 in 769 1 in 329 1 in 634 1 in 26 | 1 in 176 1 in 890 1 in 1000 1 in 1211 1 in 518 1 in 31700 1 in 867 | 1 in 78770 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 681918 <1 in 1,000,000 1 in 90133 | 1 in 123658 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 703 1 in 3560 1 in 4001 1 in 4845 1 in 2073 1 in 126800 1 in 3467 | 1 in 448 1 in 2260 1 in 2540 1 in 3076 1 in 1316 1 in 2536 1 in 104 | 1 in 703 1 in 3560 1 in 4001 1 in 4845 1 in 2073 1 in 126800 1 in 3467 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

LIPH | Hypotrichosis, type 7 or woolly hair, autosomal recessive, type 2, with or without hypotrichosis | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 500 1 in 500 N/A N/A 1 in 500 | 1 in 2,995 1 in 3000 N/A N/A 1 in 3000 | <1 in 1,000,000 <1 in 1,000,000 N/A N/A <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 N/A N/A <1 in 1,000,000 | 1 in 11980 1 in 12000 N/A N/A 1 in 12000 | 1 in 2000 1 in 2000 N/A N/A 1 in 2000 | 1 in 11980 1 in 12000 N/A N/A 1 in 12000 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

LMBRD1 | Methylmalonic aciduria and homocystinuria, cblF type | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 414 1 in 1035 1 in 1835 1 in 2536 1 in 363 | 1 in 552 1 in 1380 1 in 2447 1 in 3381 1 in 484 | 1 in 913560 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 702768 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 937024 | 1 in 2207 1 in 5520 1 in 9787 1 in 13525 1 in 1936 | 1 in 1656 1 in 4140 1 in 7340 1 in 10144 1 in 1452 | 1 in 2207 1 in 5520 1 in 9787 1 in 13525 1 in 1936 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

LOXHD1 | Deafness, autosomal recessive, type 77 | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish | 1 in 150 1 in 282 1 in 358 1 in 353 1 in 341 1 in 180 | 1 in 293 1 in 552 1 in 701 1 in 691 1 in 668 1 in 6000 | 1 in 175675 1 in 622938 <1 in 1,000,000 1 in 976104 1 in 910868 <1 in 1,000,000 | 1 in 342908 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 1171 1 in 2209 1 in 2804 1 in 2765 1 in 2671 1 in 24000 | 1 in 600 1 in 1128 1 in 1432 1 in 1412 1 in 1364 1 in 720 | 1 in 1171 1 in 2209 1 in 2804 1 in 2765 1 in 2671 1 in 24000 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

LPL | Lipoprotein lipase deficiency | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 374 1 in 68 1 in 1452 1 in 214 1 in 145 | 1 in 1,120 1 in 204 1 in 4356 1 in 642 1 in 435 | <1 in 1,000,000 1 in 55488 <1 in 1,000,000 1 in 549552 1 in 252300 | <1 in 1,000,000 1 in 166464 <1 in 1,000,000 <1 in 1,000,000 1 in 756900 | 1 in 4480 1 in 816 1 in 17424 1 in 2568 1 in 1740 | 1 in 1496 1 in 272 1 in 5808 1 in 856 1 in 580 | 1 in 4480 1 in 816 1 in 17424 1 in 2568 1 in 1740 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

LRPPRC | Leigh syndrome, French-Canadian type | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 768 1 in 655 1 in 222 1 in 758 1 in 1786 | 1 in 1,560 1 in 1331 1 in 451 1 in 1540 1 in 3630 | <1 in 1,000,000 <1 in 1,000,000 1 in 400631 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 1 in 814186 <1 in 1,000,000 <1 in 1,000,000 | 1 in 6239 1 in 5325 1 in 1805 1 in 6162 1 in 14518 | 1 in 3072 1 in 2620 1 in 888 1 in 3032 1 in 7144 | 1 in 6239 1 in 5325 1 in 1805 1 in 6162 1 in 14518 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

LYST | Chediak-Higashi syndrome | Autosomal recessive | General African/African American East Asian South Asian Latino | N/A N/A N/A N/A N/A | N/A N/A N/A N/A N/A | N/A N/A N/A N/A N/A | N/A N/A N/A N/A N/A | N/A N/A N/A N/A N/A | N/A N/A N/A N/A N/A | N/A N/A N/A N/A N/A | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

MAN2B1 | Alpha-mannosidosis | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 274 1 in 290 1 in 982 1 in 795 1 in 665 | 1 in 1,247 1 in 1323 1 in 4480 1 in 3627 1 in 3034 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 4986 1 in 5293 1 in 17922 1 in 14509 1 in 12136 | 1 in 1096 1 in 1160 1 in 3928 1 in 3180 1 in 2660 | 1 in 4986 1 in 5293 1 in 17922 1 in 14509 1 in 12136 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

MANBA | Mannosidosis, beta | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 684 1 in 1057 1 in 1513 1 in 1028 1 in 345 | 1 in 1,709 1 in 2643 1 in 3783 1 in 2570 1 in 863 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 6834 1 in 10570 1 in 15130 1 in 10280 1 in 3450 | 1 in 2736 1 in 4228 1 in 6052 1 in 4112 1 in 1380 | 1 in 6834 1 in 10570 1 in 15130 1 in 10280 1 in 3450 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

MAT1A | Methionine adenosyltransferase deficiency, autosomal recessive | Autosomal recessive | General African/African American East Asian South Asian Latino | 1 in 708 N/A N/A N/A N/A | 1 in 1,920 N/A N/A N/A N/A | <1 in 1,000,000 N/A N/A N/A N/A | <1 in 1,000,000 N/A N/A N/A N/A | 1 in 7680 N/A N/A N/A N/A | 1 in 2832 N/A N/A N/A N/A | 1 in 7680 N/A N/A N/A N/A | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

MCCC1 | 3-Methylcrotonyl-CoA carboxylase deficiency, type 1 | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 353 1 in 904 1 in 1157 1 in 417 1 in 370 | 1 in 705 1 in 1808 1 in 2314 1 in 834 1 in 740 | 1 in 995460 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 2820 1 in 7232 1 in 9256 1 in 3336 1 in 2960 | 1 in 1412 1 in 3616 1 in 4628 1 in 1668 1 in 1480 | 1 in 2820 1 in 7232 1 in 9256 1 in 3336 1 in 2960 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

MCCC2 | 3-Methylcrotonyl-CoA carboxylase deficiency, type 2 | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 204 1 in 407 1 in 192 1 in 308 1 in 125 | 1 in 788 1 in 1577 1 in 744 1 in 1194 1 in 484 | 1 in 642702 <1 in 1,000,000 1 in 571392 <1 in 1,000,000 1 in 242188 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 938477 | 1 in 3151 1 in 6309 1 in 2976 1 in 4774 1 in 1938 | 1 in 816 1 in 1628 1 in 768 1 in 1232 1 in 500 | 1 in 3151 1 in 6309 1 in 2976 1 in 4774 1 in 1938 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

MCEE | Methylmalonyl-CoA epimerase deficiency | Autosomal recessive | General African/African American East Asian South Asian Latino | 1 in 500 1 in 1878 1 in 2277 1 in 7646 N/A | 1 in 50,000 1 in 187800 1 in 227700 1 in 764600 N/A | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 N/A | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 N/A | 1 in 199804 1 in 751200 1 in 910800 <1 in 1,000,000 N/A | 1 in 2002 1 in 7512 1 in 9108 1 in 30584 N/A | 1 in 199804 1 in 751200 1 in 910800 <1 in 1,000,000 N/A | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

MCOLN1 | Mucolipidosis type 4 | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish | 1 in 1,166 1 in 2037 N/A 1 in 2565 1 in 1537 1 in 115 | 1 in 4,850 1 in 8479 N/A 1 in 10677 1 in 6398 1 in 483 | <1 in 1,000,000 <1 in 1,000,000 N/A <1 in 1,000,000 <1 in 1,000,000 1 in 214707 | <1 in 1,000,000 <1 in 1,000,000 N/A <1 in 1,000,000 <1 in 1,000,000 1 in 933511 | 1 in 19402 1 in 33917 N/A 1 in 42709 1 in 25592 1 in 1932 | 1 in 4664 1 in 8148 N/A 1 in 10260 1 in 6148 1 in 444 | 1 in 19402 1 in 33917 N/A 1 in 42709 1 in 25592 1 in 1932 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

MECP2 | Encephalopathy, neonatal severe; Rett syndrome | X-linked | General African/African American East Asian South Asian Latino | 1 in 500,000 N/A N/A N/A N/A | 1 in 1,000,000 N/A N/A N/A N/A | <1 in 1,000,000 N/A N/A N/A N/A | - - - - - | - - - - - | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 | - - - - - | - - - - - |

MED17 | Microcephaly, postnatal progressive, with seizures and brain atrophy | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish Sephardic Jewish | 1 in 1,287 N/A N/A N/A N/A N/A 1 in 20 | N/A N/A N/A N/A N/A N/A 1 in 667 | N/A N/A N/A N/A N/A N/A 1 in 53333 | N/A N/A N/A N/A N/A N/A <1 in 1,000,000 | N/A N/A N/A N/A N/A N/A 1 in 2667 | 1 in 5148 N/A N/A N/A N/A N/A 1 in 80 | N/A N/A N/A N/A N/A N/A 1 in 2667 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

MEFV | Familial Mediterranean fever | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish | 1 in 40 1 in 230 1 in 141 1 in 56 1 in 74 1 in 8-13 | 1 in 95 1 in 552 1 in 338 1 in 134 1 in 178 N/A | 1 in 15136 1 in 507840 1 in 190858 1 in 30106 1 in 52570 N/A | 1 in 35797 <1 in 1,000,000 1 in 458058 1 in 72253 1 in 126167 N/A | 1 in 378 1 in 2208 1 in 1354 1 in 538 1 in 710 N/A | 1 in 160 1 in 920 1 in 564 1 in 224 1 in 296 1 in 40 | 1 in 378 1 in 2208 1 in 1354 1 in 538 1 in 710 N/A | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

MESP2 | Spondylocostal dysostosis, type 2, autosomal recessive | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 3,820 1 in 145 1 in 237 1 in 168 1 in 216 | 1 in 4,457 1 in 169 1 in 277 1 in 196 1 in 252 | <1 in 1,000,000 1 in 98117 1 in 262122 1 in 131712 1 in 217728 | <1 in 1,000,000 1 in 114469 1 in 305809 1 in 153664 1 in 254016 | 1 in 17826 1 in 677 1 in 1106 1 in 784 1 in 1008 | 1 in 15280 1 in 580 1 in 948 1 in 672 1 in 864 | 1 in 17826 1 in 677 1 in 1106 1 in 784 1 in 1008 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

MFSD8 | Ceroid lipofuscinosis, neuronal, type 7 | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 555 1 in 1351 1 in 869 1 in 480 1 in 1289 | 1 in 1,272 1 in 3099 1 in 1994 1 in 1101 1 in 2957 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 5088 1 in 12397 1 in 7974 1 in 4405 1 in 11828 | 1 in 2220 1 in 5404 1 in 3476 1 in 1920 1 in 5156 | 1 in 5088 1 in 12397 1 in 7974 1 in 4405 1 in 11828 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

MKS1 | Bardet-Biedl syndrome type 13; Meckel syndrome, type 1; Joubert syndrome, type 28 | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 246 1 in 750 1 in 283 1 in 355 1 in 1066 | 1 in 859 1 in 2625 1 in 991 1 in 1243 1 in 3731 | 1 in 844764 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 3434 1 in 10500 1 in 3962 1 in 4970 1 in 14924 | 1 in 984 1 in 3000 1 in 1132 1 in 1420 1 in 4264 | 1 in 3434 1 in 10500 1 in 3962 1 in 4970 1 in 14924 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

MLC1 | Megalencephalic leukoencephalopathy with subcortical cysts | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish | 1 in 884 1 in 737 1 in 1710 1 in 1280 1 in 5597 1 in 196 | 1 in 4,416 1 in 3685 1 in 8550 1 in 6400 1 in 27985 1 in 19600 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 17664 1 in 14740 1 in 34200 1 in 25600 1 in 111940 1 in 78400 | 1 in 3536 1 in 2948 1 in 6840 1 in 5120 1 in 22388 1 in 784 | 1 in 17664 1 in 14740 1 in 34200 1 in 25600 1 in 111940 1 in 78400 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

MLYCD | Malonyl-CoA decarboxylase deficiency | Autosomal recessive | General African/African American East Asian South Asian Latino | 1 in 500 N/A N/A N/A N/A | 1 in 1,000 N/A N/A N/A N/A | <1 in 1,000,000 N/A N/A N/A N/A | <1 in 1,000,000 N/A N/A N/A N/A | 1 in 4000 N/A N/A N/A N/A | 1 in 2002 N/A N/A N/A N/A | 1 in 4000 N/A N/A N/A N/A | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

MMAA | Methylmalonic aciduria, vitamin B12-responsive | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 677 1 in 280 1 in 2156 1 in 1167 1 in 2098 | 1 in 2,619 1 in 1084 1 in 8349 1 in 4519 1 in 8124 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 10475 1 in 4337 1 in 33396 1 in 18077 1 in 32497 | 1 in 2708 1 in 1120 1 in 8624 1 in 4668 1 in 8392 | 1 in 10475 1 in 4337 1 in 33396 1 in 18077 1 in 32497 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

MMAB | Methylmalonic aciduria, vitamin B12-responsive, type cblB | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 672 1 in 542 N/A 1 in 640 1 in 1411 | 1 in 3,220 1 in 2600 N/A 1 in 3070 1 in 6769 | <1 in 1,000,000 <1 in 1,000,000 N/A <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 N/A <1 in 1,000,000 <1 in 1,000,000 | 1 in 12879 1 in 10400 N/A 1 in 12280 1 in 27075 | 1 in 2688 1 in 2168 N/A 1 in 2560 1 in 5644 | 1 in 12879 1 in 10400 N/A 1 in 12280 1 in 27075 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

MMACHC | Methylmalonic aciduria and homocystinuria, cblC type | Autosomal recessive, digenic inheritance (PRDX1 gene) | General African/African American East Asian South Asian Latino | 1 in 224 1 in 280 1 in 184 1 in 230 1 in 102 | 1 in 2,232 1 in 2800 1 in 1840 1 in 2300 1 in 1020 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 416160 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 8928 1 in 11200 1 in 7360 1 in 9200 1 in 4080 | 1 in 896 1 in 1120 1 in 736 1 in 920 1 in 408 | 1 in 8928 1 in 11200 1 in 7360 1 in 9200 1 in 4080 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

MMADHC | Homocystinuria, cblD type, variant 1 | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 2,194 1 in 3366 1 in 1720 1 in 1282 1 in 5641 | 1 in 6,215 1 in 9537 1 in 4873 1 in 3632 1 in 15983 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 24858 1 in 38148 1 in 19493 1 in 14529 1 in 63931 | 1 in 8776 1 in 13464 1 in 6880 1 in 5128 1 in 22564 | 1 in 24858 1 in 38148 1 in 19493 1 in 14529 1 in 63931 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

MMUT | Methylmalonic aciduria, mut(0) type | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 296 1 in 145 1 in 110 1 in 72 1 in 180 | 1 in 1,169 1 in 574 1 in 435 1 in 285 1 in 712 | <1 in 1,000,000 1 in 332861 1 in 191563 1 in 82071 1 in 512946 | <1 in 1,000,000 <1 in 1,000,000 1 in 758191 1 in 324831 <1 in 1,000,000 | 1 in 4674 1 in 2296 1 in 1741 1 in 1140 1 in 2850 | 1 in 1184 1 in 580 1 in 440 1 in 288 1 in 720 | 1 in 4674 1 in 2296 1 in 1741 1 in 1140 1 in 2850 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

MOGS | Congenital disorder of glycosylation, type 2B | Autosomal recessive | General African/African American East Asian South Asian Latino | <1 in 500 N/A N/A N/A N/A | <1 in 667 N/A N/A N/A N/A | <1 in 1,000,000 N/A N/A N/A N/A | <1 in 1,000,000 N/A N/A N/A N/A | 1 in 2668 N/A N/A N/A N/A | 1 in 2002 N/A N/A N/A N/A | 1 in 2668 N/A N/A N/A N/A | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

MPI | Congenital disorder of glycosylation, type 1B | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 473 1 in 688 1 in 442 1 in 1924 1 in 1139 | 1 in 9441 1 in 13760 1 in 8840 1 in 38480 1 in 22780 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 37764 1 in 55040 1 in 35360 1 in 153920 1 in 91120 | 1 in 1892 1 in 2752 1 in 1768 1 in 7696 1 in 4556 | 1 in 37764 1 in 55040 1 in 35360 1 in 153920 1 in 91120 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

MPL | Thrombocytopenia, congenital amegakaryocytic | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish | 1 in 241 1 in 496 1 in 681 1 in 617 1 in 602 1 in 56 | 1 in 433 1 in 893 1 in 1226 1 in 1111 1 in 1084 1 in 1866 | 1 in 417412 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 417867 | 1 in 749956 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 1732 1 in 3571 1 in 4903 1 in 4442 1 in 4334 1 in 7464 | 1 in 964 1 in 1984 1 in 2724 1 in 2468 1 in 2408 1 in 224 | 1 in 1732 1 in 3571 1 in 4903 1 in 4442 1 in 4334 1 in 7464 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

MPV17 | Mitochondrial DNA depletion syndrome type 6 (hepatocerebral); Charcot-Marie-Tooth disease, axonal, type 2EE | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 612 1 in 566 N/A 1 in 1399 N/A | 1 in 1,783 1 in 1651 N/A 1 in 4080 N/A | <1 in 1,000,000 <1 in 1,000,000 N/A <1 in 1,000,000 N/A | <1 in 1,000,000 <1 in 1,000,000 N/A <1 in 1,000,000 N/A | 1 in 7132 1 in 6603 N/A 1 in 16322 N/A | 1 in 2448 1 in 2264 N/A 1 in 5596 N/A | 1 in 7132 1 in 6603 N/A 1 in 16322 N/A | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

MTHFR | Homocystinuria due to MTHFR deficiency | Autosomal recessive | General African/African American East Asian South Asian Latino Ashkenazi Jewish Sephardic Jewish | 1 in 1,119 N/A N/A N/A N/A N/A 1 in 39 | N/A N/A N/A N/A N/A N/A 1 in 1300 | N/A N/A N/A N/A N/A N/A 1 in 202800 | N/A N/A N/A N/A N/A N/A <1 in 1,000,000 | N/A N/A N/A N/A N/A N/A 1 in 5200 | 1 in 4476 N/A N/A N/A N/A N/A 1 in 156 | N/A N/A N/A N/A N/A N/A 1 in 5200 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

MTM1 | Myotubular myopathy, X-linked | X-linked | General African/African American East Asian South Asian Latino | 1 in 29,412 N/A N/A N/A N/A | <1 in 140,000 N/A N/A N/A N/A | 1 in 561248 N/A N/A N/A N/A | - - - - - | - - - - - | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 | - - - - - | - - - - - |

MTMR2 | Charcot-Marie-Tooth disease, type 4B1 | Autosomal recessive | General African/African American East Asian South Asian Latino | 1 in 500 N/A N/A N/A N/A | 1 in 1,000 N/A N/A N/A N/A | <1 in 1,000,000 N/A N/A N/A N/A | <1 in 1,000,000 N/A N/A N/A N/A | 1 in 4000 N/A N/A N/A N/A | 1 in 2002 N/A N/A N/A N/A | 1 in 4000 N/A N/A N/A N/A | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

MTR | Homocystinuria-megaloblastic anemia, cblG complementation type | Autosomal recessive | General African/African American East Asian South Asian Latino | <1 in 500 N/A N/A N/A N/A | <1 in 864 N/A N/A N/A N/A | <1 in 1,000,000 N/A N/A N/A N/A | <1 in 1,000,000 N/A N/A N/A N/A | 1 in 3455 N/A N/A N/A N/A | 1 in 2002 N/A N/A N/A N/A | 1 in 3455 N/A N/A N/A N/A | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

MTRR | Homocystinuria-megaloblastic anemia, cbl E type | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 642 1 in 759 N/A 1 in 2565 1 in 489 | 1 in 875 1 in 1035 N/A 1 in 3498 1 in 667 | <1 in 1,000,000 <1 in 1,000,000 N/A <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 N/A <1 in 1,000,000 <1 in 1,000,000 | 1 in 3500 1 in 4140 N/A 1 in 13991 1 in 2667 | 1 in 2568 1 in 3036 N/A 1 in 10260 1 in 1956 | 1 in 3500 1 in 4140 N/A 1 in 13991 1 in 2667 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

MTTP | Abetalipoproteinemia | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish | 1 in 655 1 in 1354 1 in 1437 1 in 3078 1 in 2131 1 in 186 | 1 in 1,496 1 in 3095 1 in 3285 1 in 7035 1 in 4871 1 in 6200 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 5983 1 in 12379 1 in 13138 1 in 28142 1 in 19483 1 in 24800 | 1 in 2620 1 in 5416 1 in 5748 1 in 12312 1 in 8524 1 in 744 | 1 in 5983 1 in 12379 1 in 13138 1 in 28142 1 in 19483 1 in 24800 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

MVK | Mevalonic aciduria | Autosomal recessive | General African/African American East Asian South Asian Latino | 1 in 286 N/A N/A N/A N/A | 1 in 2,261 N/A N/A N/A N/A | <1 in 1,000,000 N/A N/A N/A N/A | <1 in 1,000,000 N/A N/A N/A N/A | 1 in 9043 N/A N/A N/A N/A | 1 in 1143 N/A N/A N/A N/A | 1 in 9043 N/A N/A N/A N/A | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

MYO15A | Deafness, autosomal recessive, type 3 | Autosomal recessive | General African/African American East Asian South Asian Latino | N/A N/A N/A N/A N/A | N/A N/A N/A N/A N/A | N/A N/A N/A N/A N/A | N/A N/A N/A N/A N/A | N/A N/A N/A N/A N/A | N/A N/A N/A N/A N/A | N/A N/A N/A N/A N/A | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

MYO7A | Usher syndrome, type 1B; Deafness, autosomal recessive, type 2 | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 129 1 in 174 1 in 119 1 in 61 1 in 300 | 1 in 371 1 in 503 1 in 344 1 in 176 1 in 867 | 1 in 191339 1 in 349888 1 in 163653 1 in 43002 <1 in 1,000,000 | 1 in 550004 <1 in 1,000,000 1 in 472818 1 in 124240 <1 in 1,000,000 | 1 in 1483 1 in 2011 1 in 1375 1 in 705 1 in 3467 | 1 in 516 1 in 696 1 in 476 1 in 244 1 in 1200 | 1 in 1483 1 in 2011 1 in 1375 1 in 705 1 in 3467 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

NADK2 | 2,4-dienoyl-CoA reductase deficiency | Autosomal recessive | General African/African American East Asian South Asian Latino | 1 in 500 N/A N/A N/A N/A | N/A N/A N/A N/A N/A | N/A N/A N/A N/A N/A | N/A N/A N/A N/A N/A | N/A N/A N/A N/A N/A | 1 in 2000 N/A N/A N/A N/A | N/A N/A N/A N/A N/A | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

NAGLU | Mucopolysaccharidosis, type 3B (Sanfilippo B) | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 346 1 in 216 1 in 324 1 in 442 1 in 647 | 1 in 644 1 in 403 1 in 604 1 in 824 1 in 1207 | 1 in 891820 1 in 348029 1 in 783064 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 1 in 649026 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 2578 1 in 1611 1 in 2417 1 in 3297 1 in 4826 | 1 in 1384 1 in 864 1 in 1296 1 in 1768 1 in 2588 | 1 in 2578 1 in 1611 1 in 2417 1 in 3297 1 in 4826 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

NAGS | N-acetylglutamate synthase deficiency | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 920 1 in 701 N/A 1 in 2850 1 in 2493 | 1 in 1,755 1 in 1338 N/A 1 in 5441 1 in 4759 | <1 in 1,000,000 <1 in 1,000,000 N/A <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 N/A <1 in 1,000,000 <1 in 1,000,000 | 1 in 7022 1 in 5353 N/A 1 in 21764 1 in 19037 | 1 in 3680 1 in 2804 N/A 1 in 11400 1 in 9972 | 1 in 7022 1 in 5353 N/A 1 in 21764 1 in 19037 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

NBN | Nijmegen breakage syndrome | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 525 1 in 503 1 in 2137 1 in 1025 1 in 1403 | 1 in 1,667 1 in 1600 1 in 6796 1 in 3260 1 in 4462 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 6669 1 in 6398 1 in 27183 1 in 13038 1 in 17846 | 1 in 2100 1 in 2012 1 in 8548 1 in 4100 1 in 5612 | 1 in 6669 1 in 6398 1 in 27183 1 in 13038 1 in 17846 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

NCF1 | Chronic granulomatous disease, type 1 | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 343 1 in 358 1 in 1110 1 in 437 1 in 220 | 1 in 1,027 1 in 1074 1 in 3330 1 in 1311 1 in 660 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 580800 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 4108 1 in 4296 1 in 13320 1 in 5244 1 in 2640 | 1 in 1372 1 in 1432 1 in 4440 1 in 1748 1 in 880 | 1 in 4108 1 in 4296 1 in 13320 1 in 5244 1 in 2640 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

NCF2 | Chronic granulomatous disease, type 2 | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 1,883 1 in 556 1 in 2262 1 in 2189 1 in 8129 | 1 in 3,953 1 in 1168 1 in 4750 1 in 4597 1 in 17071 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 15813 1 in 4670 1 in 19001 1 in 18388 1 in 68284 | 1 in 7532 1 in 2224 1 in 9048 1 in 8756 1 in 32516 | 1 in 15813 1 in 4670 1 in 19001 1 in 18388 1 in 68284 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

NDP | Norrie disease | X-linked | General African/African American East Asian South Asian Latino | 1 in 50,000 N/A N/A N/A N/A | <1 in 1,000,000 N/A N/A N/A N/A | <1 in 1,000,000 N/A N/A N/A N/A | - - - - - | - - - - - | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 | - - - - - | - - - - - |

NDRG1 | Charcot-Marie-Tooth disease, type 4D | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 7,299 N/A 1 in 2252 1 in 4789 N/A | 1 in 29,193 N/A 1 in 9008 1 in 19156 N/A | <1 in 1,000,000 N/A <1 in 1,000,000 <1 in 1,000,000 N/A | <1 in 1,000,000 N/A <1 in 1,000,000 <1 in 1,000,000 N/A | 1 in 116772 N/A 1 in 36032 1 in 76624 N/A | 1 in 29196 N/A 1 in 9008 1 in 19156 N/A | 1 in 116772 N/A 1 in 36032 1 in 76624 N/A | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

NDUFAF2 | Mitochondrial complex I deficiency, nuclear type 10 | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 1,014 1 in 796 1 in 889 1 in 1326 1 in 1625 | 1 in 2,365 1 in 1857 1 in 2074 1 in 3094 1 in 3792 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 9459 1 in 7429 1 in 8297 1 in 12376 1 in 15167 | 1 in 4056 1 in 3184 1 in 3556 1 in 5304 1 in 6500 | 1 in 9459 1 in 7429 1 in 8297 1 in 12376 1 in 15167 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

NDUFAF5 | Mitochondrial complex I deficiency, nuclear type 16 | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish | 1 in 982 1 in 861 1 in 309 1 in 1180 1 in 1625 ≤1 in 157 | 1 in 1,262 1 in 1107 1 in 397 1 in 1517 1 in 2089 1 in 6790 | <1 in 1,000,000 <1 in 1,000,000 1 in 491045 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 1 in 631344 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 5049 1 in 4428 1 in 1589 1 in 6069 1 in 8357 1 in 27162 | 1 in 3928 1 in 3444 1 in 1236 1 in 4720 1 in 6500 1 in 815 | 1 in 5049 1 in 4428 1 in 1589 1 in 6069 1 in 8357 1 in 27162 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

NDUFS4 | Mitochondrial complex I deficiency, nuclear type 1 | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 1,738 1 in 1103 1 in 4597 1 in 1914 1 in 1207 | 1 in 5,212 1 in 3309 1 in 13791 1 in 5742 1 in 3621 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 20848 1 in 13236 1 in 55164 1 in 22968 1 in 14484 | 1 in 6952 1 in 4412 1 in 18388 1 in 7656 1 in 4828 | 1 in 20848 1 in 13236 1 in 55164 1 in 22968 1 in 14484 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

NDUFS6 | Mitochondrial complex I deficiency, nuclear type 9 | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish Sephardic Jewish | 1 in 3,535 1 in 1896 1 in 1473 1 in 1398 1 in 2452 1 in 1113 1 in 24 | 1 in 4,419 1 in 2370 1 in 1841 1 in 1748 1 in 3065 1 in 37100 1 in 800 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 76800 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 17674 1 in 9480 1 in 7365 1 in 6990 1 in 12260 1 in 148400 1 in 3200 | 1 in 14140 1 in 7584 1 in 5892 1 in 5592 1 in 9808 1 in 4452 1 in 96 | 1 in 17674 1 in 9480 1 in 7365 1 in 6990 1 in 12260 1 in 148400 1 in 3200 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

NDUFS7 | Mitochondrial complex I deficiency, nuclear type 3 | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 839 1 in 2327 1 in 3320 1 in 180 1 in 1552 | 1 in 1,049 1 in 2909 1 in 4150 1 in 225 1 in 1940 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 162000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 202500 <1 in 1,000,000 | 1 in 4194 1 in 11635 1 in 16600 1 in 900 1 in 7760 | 1 in 3356 1 in 9308 1 in 13280 1 in 720 1 in 6208 | 1 in 4194 1 in 11635 1 in 16600 1 in 900 1 in 7760 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

NDUFV1 | Mitochondrial complex I deficiency, nuclear type 4 | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 469 1 in 441 1 in 2260 1 in 319 1 in 157 | 1 in 736 1 in 693 1 in 3551 1 in 501 1 in 247 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 639641 1 in 154937 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 243472 | 1 in 2946 1 in 2772 1 in 14206 1 in 2005 1 in 987 | 1 in 1876 1 in 1764 1 in 9040 1 in 1276 1 in 628 | 1 in 2946 1 in 2772 1 in 14206 1 in 2005 1 in 987 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

NEB | Nemaline myopathy type 2 | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish | 1 in 175 1 in 368 1 in 123 1 in 200 1 in 172 1 in 124 | 1 in 517 1 in 1091 1 in 365 1 in 593 1 in 510 1 in 123 | 1 in 361754 <1 in 1,000,000 1 in 179389 1 in 474291 1 in 350786 1 in 60074 | <1 in 1,000,000 <1 in 1,000,000 1 in 531765 <1 in 1,000,000 <1 in 1,000,000 1 in 60681 | 1 in 2067 1 in 4363 1 in 1458 1 in 2371 1 in 2039 1 in 493 | 1 in 700 1 in 1472 1 in 492 1 in 800 1 in 688 1 in 488 | 1 in 2067 1 in 4363 1 in 1458 1 in 2371 1 in 2039 1 in 493 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

NEU1 | Sialidosis, type 1 and type 2 | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 1,666 1 in 2833 1 in 279 1 in 3045 1 in 636 | 1 in 2,841 1 in 4833 1 in 476 1 in 5194 1 in 1085 | <1 in 1,000,000 <1 in 1,000,000 1 in 531150 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 1 in 906080 <1 in 1,000,000 <1 in 1,000,000 | 1 in 11365 1 in 19331 1 in 1904 1 in 20778 1 in 4340 | 1 in 6664 1 in 11332 1 in 1116 1 in 12180 1 in 2544 | 1 in 11365 1 in 19331 1 in 1904 1 in 20778 1 in 4340 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

NHP2 | Dyskeratosis congenita, autosomal recessive type 2 | Autosomal recessive | General African/African American East Asian South Asian Latino | 1 in 250 N/A N/A N/A N/A | 1 in 24,964 N/A N/A N/A N/A | <1 in 1,000,000 N/A N/A N/A N/A | <1 in 1,000,000 N/A N/A N/A N/A | 1 in 99855 N/A N/A N/A N/A | 1 in 1003 N/A N/A N/A N/A | 1 in 99855 N/A N/A N/A N/A | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

NLRP7 | Hydatidiform mole, recurrent, type 1 | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 500 1 in 500 N/A N/A 1 in 500 | 1 in 722 1 in 722 N/A N/A 1 in 722 | <1 in 1,000,000 <1 in 1,000,000 N/A N/A <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 N/A N/A <1 in 1,000,000 | 1 in 2887 1 in 2889 N/A N/A 1 in 2889 | 1 in 2000 1 in 2000 N/A N/A 1 in 2000 | 1 in 2887 1 in 2889 N/A N/A 1 in 2889 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

NOP10 | Dyskeratosis congenita, autosomal recessive type 1 | Autosomal recessive | General African/African American East Asian South Asian Latino | 1 in 250 N/A N/A N/A N/A | 1 in 500 N/A N/A N/A N/A | 1 in 501507 N/A N/A N/A N/A | <1 in 1,000,000 N/A N/A N/A N/A | 1 in 2001 N/A N/A N/A N/A | 1 in 1003 N/A N/A N/A N/A | 1 in 2001 N/A N/A N/A N/A | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

NPC1 | Niemann-Pick disease, type C1 | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 163 1 in 233 1 in 211 1 in 334 1 in 272 | 1 in 954 1 in 1371 1 in 1242 1 in 1965 1 in 1601 | 1 in 622209 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 3817 1 in 5484 1 in 4967 1 in 7862 1 in 6402 | 1 in 652 1 in 932 1 in 844 1 in 1336 1 in 1088 | 1 in 3817 1 in 5484 1 in 4967 1 in 7862 1 in 6402 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

NPC2 | Niemann-pick disease, type C2 | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 945 1 in 1214 N/A N/A 1 in 3089 | 1 in 3,588 1 in 4613 N/A N/A 1 in 11738 | <1 in 1,000,000 <1 in 1,000,000 N/A N/A <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 N/A N/A <1 in 1,000,000 | 1 in 14353 1 in 18453 N/A N/A 1 in 46953 | 1 in 3780 1 in 4856 N/A N/A 1 in 12356 | 1 in 14353 1 in 18453 N/A N/A 1 in 46953 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

NPHP1 | Joubert syndrome type 4 | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 418 1 in 315 1 in 164 1 in 536 1 in 218 | 1 in 825 1 in 623 1 in 324 1 in 1060 1 in 431 | <1 in 1,000,000 1 in 784570 1 in 212666 <1 in 1,000,000 1 in 375771 | <1 in 1,000,000 <1 in 1,000,000 1 in 420386 <1 in 1,000,000 1 in 742803 | 1 in 3301 1 in 2491 1 in 1297 1 in 4238 1 in 1724 | 1 in 1672 1 in 1260 1 in 656 1 in 2144 1 in 872 | 1 in 3301 1 in 2491 1 in 1297 1 in 4238 1 in 1724 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

NPHS1 | Nephrotic syndrome, type 1 | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 190 1 in 191 1 in 398 1 in 145 1 in 298 | 1 in 1,993 1 in 2013 1 in 4194 1 in 1528 1 in 3140 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 886285 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 7971 1 in 8051 1 in 16777 1 in 6112 1 in 12562 | 1 in 760 1 in 764 1 in 1592 1 in 580 1 in 1192 | 1 in 7971 1 in 8051 1 in 16777 1 in 6112 1 in 12562 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

NPHS2 | Nephrotic syndrome, type 2 | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 226 1 in 456 1 in 595 1 in 733 1 in 884 | 1 in 601 1 in 1216 1 in 1587 1 in 1955 1 in 2357 | 1 in 543304 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 2404 1 in 4864 1 in 6347 1 in 7819 1 in 9429 | 1 in 904 1 in 1824 1 in 2380 1 in 2932 1 in 3536 | 1 in 2404 1 in 4864 1 in 6347 1 in 7819 1 in 9429 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

NR0B1 | Adrenal hypoplasia, congenital | X-linked | General African/African American East Asian South Asian Latino | 1 in 35,000 N/A N/A N/A N/A | <1 in 66,000 N/A N/A N/A N/A | 1 in 265694 N/A N/A N/A N/A | - - - - - | - - - - - | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 | - - - - - | - - - - - |

NR2E3 | Enhanced S-cone syndrome (Goldmann-Favre); Retinitis pigmentosa, type 37 | Autosomal recessive; Autosomal recessive* | Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish | 1 in 278 1 in 389 1 in 488 1 in 874 1 in 536 1 in 81 | 1 in 417 1 in 584 1 in 732 1 in 1311 1 in 804 1 in 2700 | 1 in 463148 1 in 907926 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 874800 | 1 in 693889 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 1666 1 in 2334 1 in 2928 1 in 5244 1 in 3216 1 in 10800 | 1 in 1112 1 in 1556 1 in 1952 1 in 3496 1 in 2144 1 in 324 | 1 in 1666 1 in 2334 1 in 2928 1 in 5244 1 in 3216 1 in 10800 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

NTRK1 | Insensitivity to pain, congenital, with anhidrosis | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish | 1 in 1,122 1 in 713 1 in 280 1 in 3539 1 in 2105 <1 in 500 | 1 in 1,974 1 in 1255 1 in 493 1 in 6229 1 in 3705 1 in 60900 | <1 in 1,000,000 <1 in 1,000,000 1 in 551936 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 1 in 971407 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 7896 1 in 5020 1 in 1971 1 in 24915 1 in 14819 1 in 243600 | 1 in 4488 1 in 2852 1 in 1120 1 in 14156 1 in 8420 1 in 7308 | 1 in 7896 1 in 5020 1 in 1971 1 in 24915 1 in 14819 1 in 243600 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

OAT | Gyrate atrophy of choroid and retina | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish Sephardic Jewish | 1 in 749 1 in 2898 N/A 1 in 905 1 in 1291 1 in 615 1 in 177 | 1 in 5,071 1 in 19642 N/A 1 in 6134 1 in 8750 1 in 20500 1 in 5900 | <1 in 1,000,000 <1 in 1,000,000 N/A <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 N/A <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 20283 1 in 78568 N/A 1 in 24536 1 in 35000 1 in 82000 1 in 23600 | 1 in 2996 1 in 11592 N/A 1 in 3620 1 in 5164 1 in 2460 1 in 708 | 1 in 20283 1 in 78568 N/A 1 in 24536 1 in 35000 1 in 82000 1 in 23600 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

OCA2 | Oculocutaneous albinism type 2 | Autosomal recessive | General African/African American East Asian South Asian Latino | 1 in 101 N/A N/A N/A N/A | 1 in 204 N/A N/A N/A N/A | 1 in 82071 N/A N/A N/A N/A | 1 in 166710 N/A N/A N/A N/A | 1 in 817 N/A N/A N/A N/A | 1 in 402 N/A N/A N/A N/A | 1 in 817 N/A N/A N/A N/A | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

OCRL | Lowe Syndrome; Dent disease type 2 | X-linked | General African/African American East Asian South Asian Latino | 1 in 357,144 N/A N/A N/A N/A | <1 in 1,000,000 N/A N/A N/A N/A | <1 in 1,000,000 N/A N/A N/A N/A | - - - - - | - - - - - | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 | - - - - - | - - - - - |

OPA3 | 3-methylglutaconic aciduria, type 3 | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish Sephardic Jewish | 1 in 4,808 1 in 500 N/A N/A 1 in 3349 N/A 1 in 12 | 1 in 6,010 1 in 625 N/A N/A 1 in 4186 N/A 1 in 400 | <1 in 1,000,000 <1 in 1,000,000 N/A N/A <1 in 1,000,000 N/A 1 in 19200 | <1 in 1,000,000 <1 in 1,000,000 N/A N/A <1 in 1,000,000 N/A 1 in 640000 | 1 in 24039 1 in 2500 N/A N/A 1 in 16745 N/A 1 in 1600 | 1 in 19232 1 in 2000 N/A N/A 1 in 13396 N/A 1 in 48 | 1 in 24039 1 in 2500 N/A N/A 1 in 16745 N/A 1 in 1600 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

OPHN1 | Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance | X-linked | General African/African American East Asian South Asian Latino | 1 in 500,000 N/A N/A N/A N/A | 1 in 1,000,000 N/A N/A N/A N/A | <1 in 1,000,000 N/A N/A N/A N/A | - - - - - | - - - - - | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 | - - - - - | - - - - - |

OSTM1 | Osteopetrosis, autosomal recessive type 5 | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 6,173 N/A 1 in 9197 1 in 6619 N/A | 1 in 9,259 N/A 1 in 13796 1 in 9929 N/A | <1 in 1,000,000 N/A <1 in 1,000,000 <1 in 1,000,000 N/A | <1 in 1,000,000 N/A <1 in 1,000,000 <1 in 1,000,000 N/A | 1 in 37036 N/A 1 in 55182 1 in 39714 N/A | 1 in 24692 N/A 1 in 36788 1 in 26476 N/A | 1 in 37036 N/A 1 in 55182 1 in 39714 N/A | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

OTC | Ornithine transcarbamylase deficiency | X-linked | General African/African American East Asian South Asian Latino | 1 in 37,667 1 in 35000 N/A N/A 1 in 35000 | <1 in 96,000 1 in 89077 N/A N/A 1 in 89077 | 1 in 383453 1 in 356306 N/A N/A 1 in 356306 | - - - - - | - - - - - | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 | - - - - - | - - - - - |

OTOF | Deafness, autosomal recessive, type 9 | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 228 1 in 258 1 in 52 1 in 240 1 in 201 | 1 in 22,701 1 in 25800 1 in 5200 1 in 24000 1 in 20100 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 90804 1 in 103200 1 in 20800 1 in 96000 1 in 80400 | 1 in 912 1 in 1032 1 in 208 1 in 960 1 in 804 | 1 in 90804 1 in 103200 1 in 20800 1 in 96000 1 in 80400 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

P3H1 | Osteogenesis imperfecta, type 8 | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 567 1 in 278 1 in 206 1 in 765 1 in 136 | 1 in 1,447 1 in 710 1 in 526 1 in 1955 1 in 348 | <1 in 1,000,000 1 in 790014 1 in 433790 <1 in 1,000,000 1 in 189070 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 483179 | 1 in 5790 1 in 2842 1 in 2106 1 in 7820 1 in 1390 | 1 in 2268 1 in 1112 1 in 824 1 in 3060 1 in 544 | 1 in 5790 1 in 2842 1 in 2106 1 in 7820 1 in 1390 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

PAH | Phenylketonuria | Autosomal recessive | General African/African American East Asian South Asian Latino Ashkenazi Jewish | 1 in 51 1 in 143 1 in 68 1 in 121 1 in 70 ≤1 in 17 | 1 in 1,239 1 in 3575 1 in 1700 1 in 3025 1 in 1750 1 in 1052 | 1 in 250228 <1 in 1,000,000 1 in 462400 <1 in 1,000,000 1 in 490000 1 in 132814 | 1 in 6136780 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 4955 1 in 14300 1 in 6800 1 in 12100 1 in 7000 1 in 4208 | 1 in 202 1 in 572 1 in 272 1 in 484 1 in 280 1 in 126 | 1 in 1324 1 in 14300 1 in 6800 1 in 12100 1 in 7000 1 in 4208 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

PAK3 | Mental retardation, X-linked, type 30 | X-linked | General African/African American East Asian South Asian Latino | 1 in 45,000 N/A N/A N/A N/A | 1 in 90,000 N/A N/A N/A N/A | 1 in 359996 N/A N/A N/A N/A | - - - - - | - - - - - | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 | - - - - - | - - - - - |

PANK2 | Neurodegeneration with brain iron accumulation type 1 | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 700 1 in 845 1 in 655 1 in 427 1 in 1027 | 1 in 1,175 1 in 1420 1 in 1100 1 in 717 1 in 1725 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 4701 1 in 5678 1 in 4402 1 in 2869 1 in 6901 | 1 in 2800 1 in 3380 1 in 2620 1 in 1708 1 in 4108 | 1 in 4701 1 in 5678 1 in 4402 1 in 2869 1 in 6901 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

PC | Pyruvate carboxylase deficiency | Autosomal recessive | General African/African American East Asian South Asian Latino | 1 in 251 N/A N/A N/A N/A | 1 in 636 N/A N/A N/A N/A | 1 in 637368 N/A N/A N/A N/A | <1 in 1,000,000 N/A N/A N/A N/A | 1 in 2544 N/A N/A N/A N/A | 1 in 1002 N/A N/A N/A N/A | 1 in 2544 N/A N/A N/A N/A | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

PCBD1 | Hyperphenylalaninemia, BH4-deficient, type D | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 984 1 in 1306 1 in 1314 1 in 7638 1 in 169 | 1 in 1,312 1 in 1741 1 in 1752 1 in 10184 1 in 225 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 152325 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 203100 | 1 in 5247 1 in 6965 1 in 7008 1 in 40736 1 in 901 | 1 in 3936 1 in 5224 1 in 5256 1 in 30552 1 in 676 | 1 in 5247 1 in 6965 1 in 7008 1 in 40736 1 in 901 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

PCCA | Propionic acidemia | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 636 1 in 393 1 in 419 1 in 507 1 in 429 | 1 in 1,237 1 in 765 1 in 816 1 in 987 1 in 835 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 4948 1 in 3060 1 in 3262 1 in 3947 1 in 3340 | 1 in 2544 1 in 1572 1 in 1676 1 in 2028 1 in 1716 | 1 in 4948 1 in 3060 1 in 3262 1 in 3947 1 in 3340 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

PCCB | Propionic acidemia | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 635 1 in 257 1 in 192 1 in 1490 1 in 688 | 1 in 1,816 1 in 736 1 in 550 1 in 4265 1 in 1969 | <1 in 1,000,000 1 in 756163 1 in 422038 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 7262 1 in 2942 1 in 2198 1 in 17058 1 in 7877 | 1 in 2540 1 in 1028 1 in 768 1 in 5960 1 in 2752 | 1 in 7262 1 in 2942 1 in 2198 1 in 17058 1 in 7877 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

PCDH15 | Deafness, autosomal recessive, type 23; Usher syndrome, type 1D/F digenic | Autosomal recessive | General African/African American East Asian South Asian Latino Ashkenazi Jewish | 1 in 497 1 in 548 1 in 191 1 in 805 1 in 545 ≤1 in 72 | 1 in 1,034 1 in 1142 1 in 398 1 in 1677 1 in 1135 1 in 381 | <1 in 1,000,000 <1 in 1,000,000 1 in 304008 <1 in 1,000,000 <1 in 1,000,000 1 in 145386 | <1 in 1,000,000 <1 in 1,000,000 1 in 633351 <1 in 1,000,000 <1 in 1,000,000 1 in 581546 | 1 in 4137 1 in 4567 1 in 1592 1 in 6708 1 in 4542 1 in 1525 | 1 in 1988 1 in 2192 1 in 764 1 in 3220 1 in 2180 1 in 381 | 1 in 4137 1 in 4567 1 in 1592 1 in 6708 1 in 4542 1 in 1525 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

PDE6A | Retinitis pigmentosa type 43 | Autosomal recessive | General African/African American East Asian South Asian Latino | 1 in 500 N/A N/A N/A N/A | 1 in 863 N/A N/A N/A N/A | <1 in 1,000,000 N/A N/A N/A N/A | <1 in 1,000,000 N/A N/A N/A N/A | 1 in 3452 N/A N/A N/A N/A | 1 in 2000 N/A N/A N/A N/A | 1 in 3452 N/A N/A N/A N/A | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

PDHA1 | Pyruvate dehydrogenase E1-alpha deficiency | X-linked | General African/African American East Asian South Asian Latino | N/A N/A N/A N/A N/A | N/A N/A N/A N/A N/A | N/A N/A N/A N/A N/A | - - - - - | - - - - - | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 | - - - - - | - - - - - |

PDHB | Pyruvate dehydrogenase E1-beta deficiency | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 2,529 1 in 1352 1 in 9197 1 in 1797 1 in 8128 | 1 in 4,214 1 in 2253 1 in 15328 1 in 2995 1 in 13547 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 16857 1 in 9013 1 in 61313 1 in 11980 1 in 54187 | 1 in 10116 1 in 5408 1 in 36788 1 in 7188 1 in 32512 | 1 in 16857 1 in 9013 1 in 61313 1 in 11980 1 in 54187 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

PEX1 | Heimler syndrome type 1 | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 191 1 in 366 1 in 153 1 in 556 1 in 601 | 1 in 19,000 1 in 36600 1 in 15300 1 in 55600 1 in 60100 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 76004 1 in 146400 1 in 61200 1 in 222400 1 in 240400 | 1 in 764 1 in 1464 1 in 612 1 in 2224 1 in 2404 | 1 in 76004 1 in 146400 1 in 61200 1 in 222400 1 in 240400 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

PEX10 | Peroxisome biogenesis disorder, type 6A (Zellweger syndrome); Peroxisome biogenesis disorder, type 6B | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 1,287 1 in 952 1 in 2025 1 in 917 1 in 3744 | 1 in 4,245 1 in 3142 1 in 6683 1 in 3026 1 in 12355 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 16979 1 in 12566 1 in 26730 1 in 12104 1 in 49421 | 1 in 5148 1 in 3808 1 in 8100 1 in 3668 1 in 14976 | 1 in 16979 1 in 12566 1 in 26730 1 in 12104 1 in 49421 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

PEX12 | Peroxisome biogenesis disorder type 3A (Zellweger) | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 718 1 in 527 1 in 2875 1 in 1278 1 in 552 | 1 in 71,701 1 in 52700 1 in 287500 1 in 127800 1 in 55200 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 286804 1 in 210800 <1 in 1,000,000 1 in 511200 1 in 220800 | 1 in 2872 1 in 2108 1 in 11500 1 in 5112 1 in 2208 | 1 in 286804 1 in 210800 <1 in 1,000,000 1 in 511200 1 in 220800 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

PEX2 | Peroxisome biogenesis disorder type 5A (Zellweger) | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish | 1 in 1,542 1 in 1741 1 in 2156 1 in 1922 1 in 2798 ≤1 in 123 | 1 in 6,165 1 in 6964 1 in 8624 1 in 7688 1 in 11192 1 in 5318 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 24660 1 in 27856 1 in 34496 1 in 30752 1 in 44768 1 in 21273 | 1 in 6168 1 in 6964 1 in 8624 1 in 7688 1 in 11192 1 in 638 | 1 in 24660 1 in 27856 1 in 34496 1 in 30752 1 in 44768 1 in 21273 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

PEX26 | Peroxisome biogenesis disorder type 7A (Zellweger) | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 996 1 in 691 1 in 263 1 in 1860 1 in 271 | 1 in 1,659 1 in 1152 1 in 438 1 in 3100 1 in 452 | <1 in 1,000,000 <1 in 1,000,000 1 in 461127 <1 in 1,000,000 1 in 489607 | <1 in 1,000,000 <1 in 1,000,000 1 in 768544 <1 in 1,000,000 1 in 816011 | 1 in 6637 1 in 4607 1 in 1753 1 in 12400 1 in 1807 | 1 in 3984 1 in 2764 1 in 1052 1 in 7440 1 in 1084 | 1 in 6637 1 in 4607 1 in 1753 1 in 12400 1 in 1807 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

PEX5 | Peroxisome biogenesis disorder type 2A (Zellweger) | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 914 1 in 2460 1 in 202 1 in 1024 1 in 1937 | 1 in 2,010 1 in 5412 1 in 444 1 in 2253 1 in 4261 | <1 in 1,000,000 <1 in 1,000,000 1 in 359075 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 1 in 789965 <1 in 1,000,000 <1 in 1,000,000 | 1 in 8038 1 in 21648 1 in 1778 1 in 9011 1 in 17046 | 1 in 3656 1 in 9840 1 in 808 1 in 4096 1 in 7748 | 1 in 8038 1 in 21648 1 in 1778 1 in 9011 1 in 17046 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

PEX6 | Peroxisome biogenesis disorder, type 4A (Zellweger syndrome); Peroxisome biogenesis disorder, type 4B; Heimler syndrome 2 | Autosomal recessive; Autosomal recessive*; Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish | 1 in 83 1 in 268 1 in 595 1 in 105 1 in 239 1 in 252 | 1 in 216 1 in 702 1 in 1558 1 in 275 1 in 626 1 in 843 | 1 in 71633 1 in 752442 <1 in 1,000,000 1 in 115500 1 in 598410 1 in 853453 | 1 in 186213 <1 in 1,000,000 <1 in 1,000,000 1 in 302500 <1 in 1,000,000 <1 in 1,000,000 | 1 in 863 1 in 2808 1 in 6233 1 in 1100 1 in 2504 1 in 3373 | 1 in 332 1 in 1072 1 in 2380 1 in 420 1 in 956 1 in 1012 | 1 in 863 1 in 2808 1 in 6233 1 in 1100 1 in 2504 1 in 3373 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

PEX7 | Rhizomelic chondrodysplasia punctata, type 1 | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 371 1 in 491 1 in 552 1 in 2285 1 in 485 | 1 in 1,032 1 in 1368 1 in 1538 1 in 6365 1 in 1351 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 4127 1 in 5471 1 in 6151 1 in 25461 1 in 5404 | 1 in 1484 1 in 1964 1 in 2208 1 in 9140 1 in 1940 | 1 in 4127 1 in 5471 1 in 6151 1 in 25461 1 in 5404 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

PFKM | Glycogen storage disease, type 7 | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish | 1 in 868 1 in 647 1 in 488 1 in 1165 1 in 62 ≤1 in 108 | 1 in 1,843 1 in 1375 1 in 1037 1 in 2476 1 in 132 1 in 5028 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 32674 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 69432 <1 in 1,000,000 | 1 in 7374 1 in 5500 1 in 4148 1 in 9903 1 in 527 1 in 20112 | 1 in 3472 1 in 2588 1 in 1952 1 in 4660 1 in 248 1 in 603 | 1 in 7374 1 in 5500 1 in 4148 1 in 9903 1 in 527 1 in 20112 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

PGK1 | Phosphoglycerate kinase 1 deficiency | X-linked | General African/African American East Asian South Asian Latino | 1 in 500,000 N/A N/A N/A N/A | 1 in 1,000,000 N/A N/A N/A N/A | <1 in 1,000,000 N/A N/A N/A N/A | - - - - - | - - - - - | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 | - - - - - | - - - - - |

PHF8 | Mental retardation syndrome, X-linked, Siderius type | X-linked | General African/African American East Asian South Asian Latino | 1 in 500,000 N/A N/A N/A N/A | 1 in 916,000 N/A N/A N/A N/A | <1 in 1,000,000 N/A N/A N/A N/A | - - - - - | - - - - - | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 | - - - - - | - - - - - |

PHGDH | Neu-Laxova syndrome, type 1; Phosphoglycerate dehydrogenase deficiency | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish | 1 in 631 1 in 1639 1 in 1232 1 in 1665 1 in 1311 ≤1 in 280 | 1 in 3,361 1 in 8741 1 in 6571 1 in 8880 1 in 6992 1 in 11536 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 13444 1 in 34965 1 in 26283 1 in 35520 1 in 27968 1 in 46145 | 1 in 2524 1 in 6556 1 in 4928 1 in 6660 1 in 5244 1 in 1384 | 1 in 13444 1 in 34965 1 in 26283 1 in 35520 1 in 27968 1 in 46145 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

PKHD1 | Polycystic kidney disease type 4 | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish | 1 in 66 1 in 66 1 in 119 1 in 154 1 in 99 1 in 106 | 1 in 266 1 in 269 1 in 485 1 in 628 1 in 404 1 in 3533 | 1 in 70204 1 in 71016 1 in 230867 1 in 386643 1 in 159786 <1 in 1,000,000 | 1 in 282863 1 in 289444 1 in 940959 <1 in 1,000,000 1 in 651249 <1 in 1,000,000 | 1 in 1064 1 in 1076 1 in 1940 1 in 2511 1 in 1614 1 in 14133 | 1 in 264 1 in 264 1 in 476 1 in 616 1 in 396 1 in 424 | 1 in 1064 1 in 1076 1 in 1940 1 in 2511 1 in 1614 1 in 14133 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

PLA2G6 | Infantile neuroaxonal dystrophy type 1 | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 343 1 in 530 1 in 251 1 in 60 1 in 214 | 1 in 856 1 in 1325 1 in 628 1 in 150 1 in 535 | <1 in 1,000,000 <1 in 1,000,000 1 in 630010 1 in 36000 1 in 457960 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 90000 <1 in 1,000,000 | 1 in 3424 1 in 5300 1 in 2510 1 in 600 1 in 2140 | 1 in 1372 1 in 2120 1 in 1004 1 in 240 1 in 856 | 1 in 3424 1 in 5300 1 in 2510 1 in 600 1 in 2140 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

PLOD1 | Ehlers-Danlos syndrome, kyphoscoliotic type, 1 | Autosomal recessive | General African/African American East Asian South Asian Latino | 1 in 159 N/A N/A N/A N/A | 1 in 299 N/A N/A N/A N/A | 1 in 189844 N/A N/A N/A N/A | 1 in 358133 N/A N/A N/A N/A | 1 in 1197 N/A N/A N/A N/A | 1 in 634 N/A N/A N/A N/A | 1 in 1197 N/A N/A N/A N/A | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

PLP1 | Pelizaeus-Merzbacher disease | X-linked | General African/African American East Asian South Asian Latino | 1 in 91,838 N/A N/A N/A N/A | 1 in 113,109 N/A N/A N/A N/A | 1 in 452435 N/A N/A N/A N/A | - - - - - | - - - - - | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 | - - - - - | - - - - - |

PMM2 | Congenital disorder of glycosylation, type 1A | Autosomal recessive | General African/African American East Asian South Asian Latino Ashkenazi Jewish | 1 in 71 1 in 245 1 in 133 1 in 278 1 in 114 1 in 61 | 1 in 7,022 1 in 24500 1 in 13300 1 in 27800 1 in 11400 1 in 2033 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 496133 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 28090 1 in 98000 1 in 53200 1 in 111200 1 in 45600 1 in 8133 | 1 in 285 1 in 980 1 in 532 1 in 1112 1 in 456 1 in 244 | 1 in 28090 1 in 98000 1 in 53200 1 in 111200 1 in 45600 1 in 8133 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

PNPO | Pyridoxamine 5'-phosphate oxidase deficiency | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 1,107 1 in 1846 1 in 1484 1 in 1920 1 in 386 | 1 in 3,983 1 in 6646 1 in 5342 1 in 6912 1 in 1390 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 15930 1 in 26582 1 in 21370 1 in 27648 1 in 5558 | 1 in 4428 1 in 7384 1 in 5936 1 in 7680 1 in 1544 | 1 in 15930 1 in 26582 1 in 21370 1 in 27648 1 in 5558 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

POLG | POLG-related disorders | Autosomal recessive | General African/African American East Asian South Asian Latino | 1 in 194 N/A N/A N/A N/A | 1 in 340 N/A N/A N/A N/A | 1 in 264146 N/A N/A N/A N/A | 1 in 462328 N/A N/A N/A N/A | 1 in 1360 N/A N/A N/A N/A | 1 in 777 N/A N/A N/A N/A | 1 in 1360 N/A N/A N/A N/A | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

POLR1C | Leukodystrophy, hypomyelinating, type 11; Treacher Collins syndrome 3 | Autosomal recessive | General African/African American East Asian South Asian Latino | 1 in 1,021 N/A N/A N/A N/A | 1 in 1,659 N/A N/A N/A N/A | <1 in 1,000,000 N/A N/A N/A N/A | <1 in 1,000,000 N/A N/A N/A N/A | 1 in 6635 N/A N/A N/A N/A | 1 in 4084 N/A N/A N/A N/A | 1 in 6635 N/A N/A N/A N/A | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

POMGNT1 | Muscular dystrophy-dystroglycanopathy, type 3A (Walker-Warburg syndrome); Type 3B; Type 3C (limb-girdle muscular dystrophy, type 15 [LGMDR15]) | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 315 1 in 674 1 in 581 1 in 727 1 in 544 | 1 in 31,401 1 in 67400 1 in 58100 1 in 72700 1 in 54400 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 125604 1 in 269600 1 in 232400 1 in 290800 1 in 217600 | 1 in 1260 1 in 2696 1 in 2324 1 in 2908 1 in 2176 | 1 in 125604 1 in 269600 1 in 232400 1 in 290800 1 in 217600 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

POMT1 | Muscular dystrophy-dystroglycanopathy, type 1A (Walker-Warburg syndrome); Type 1B; Type 1C (limb-girdle muscular dystrophy, type 11 [LGMD R11]) | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 372 1 in 390 1 in 458 1 in 427 1 in 535 | 1 in 1,708 1 in 1794 1 in 2107 1 in 1964 1 in 2461 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 6830 1 in 7176 1 in 8427 1 in 7857 1 in 9844 | 1 in 1488 1 in 1560 1 in 1832 1 in 1708 1 in 2140 | 1 in 6830 1 in 7176 1 in 8427 1 in 7857 1 in 9844 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

POMT2 | Muscular dystrophy-dystroglycanopathy, type 2A (Walker-Warburg syndrome); Type 2B; Type 2C (limb-girdle muscular dystrophy, type 14 [LGMD R14]) | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 833 1 in 908 1 in 1274 1 in 833 1 in 267 | 1 in 7,281 1 in 7945 1 in 11148 1 in 7289 1 in 2336 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 29124 1 in 31780 1 in 44590 1 in 29155 1 in 9345 | 1 in 3332 1 in 3632 1 in 5096 1 in 3332 1 in 1068 | 1 in 29124 1 in 31780 1 in 44590 1 in 29155 1 in 9345 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

POR | Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 268 1 in 278 1 in 105 1 in 417 1 in 563 | 1 in 1,069 1 in 1112 1 in 420 1 in 1668 1 in 2252 | <1 in 1,000,000 <1 in 1,000,000 1 in 176400 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 1 in 705600 <1 in 1,000,000 <1 in 1,000,000 | 1 in 4276 1 in 4448 1 in 1680 1 in 6672 1 in 9008 | 1 in 1072 1 in 1112 1 in 420 1 in 1668 1 in 2252 | 1 in 4276 1 in 4448 1 in 1680 1 in 6672 1 in 9008 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

POU1F1 | Pituitary hormone deficiency, combined, type 1 | Autosomal recessive* | General African/African American East Asian South Asian Latino | 1 in 32 N/A N/A N/A N/A | 1 in 126 N/A N/A N/A N/A | 1 in 16133 N/A N/A N/A N/A | 1 in 63024 N/A N/A N/A N/A | 1 in 502 N/A N/A N/A N/A | 1 in 129 N/A N/A N/A N/A | 1 in 502 N/A N/A N/A N/A | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

POU3F4 | Deafness, X-linked type 2 (DFNX2) | X-linked | General African/African American East Asian South Asian Latino | 1 in 556,112 N/A N/A N/A N/A | <1 in 1,000,000 N/A N/A N/A N/A | <1 in 1,000,000 N/A N/A N/A N/A | - - - - - | - - - - - | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 | - - - - - | - - - - - |

PPM1K | ?Maple syrup urine disease, mild variant | Autosomal recessive | General African/African American East Asian South Asian Latino | N/A N/A N/A N/A N/A | N/A N/A N/A N/A N/A | N/A N/A N/A N/A N/A | N/A N/A N/A N/A N/A | N/A N/A N/A N/A N/A | N/A N/A N/A N/A N/A | N/A N/A N/A N/A N/A | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

PPT1 | Ceroid lipofuscinosis, neuronal, type 1 | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 488 1 in 628 1 in 918 1 in 641 1 in 1901 | 1 in 2,165 1 in 2791 1 in 4080 1 in 2849 1 in 8449 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 8662 1 in 11164 1 in 16320 1 in 11396 1 in 33796 | 1 in 1952 1 in 2512 1 in 3672 1 in 2564 1 in 7604 | 1 in 8662 1 in 11164 1 in 16320 1 in 11396 1 in 33796 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

PQBP1 | Renpenning syndrome | X-linked | General African/African American East Asian South Asian Latino | 1 in 50,000 N/A N/A N/A N/A | 1 in 107,142 N/A N/A N/A N/A | 1 in 428567 N/A N/A N/A N/A | - - - - - | - - - - - | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 | - - - - - | - - - - - |

PRDX1 | Methylmalonic aciduria and homocystinuria, cblC type, digenic | Autosomal recessive, digenic inheritance (MMACHC gene) | General African/African American East Asian South Asian Latino | N/A N/A N/A N/A N/A | N/A N/A N/A N/A N/A | N/A N/A N/A N/A N/A | N/A N/A N/A N/A N/A | N/A N/A N/A N/A N/A | N/A N/A N/A N/A N/A | N/A N/A N/A N/A N/A | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

PRF1 | Hemophagocytic lymphohistiocytosis, familial, type 2 | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 308 1 in 429 1 in 1099 1 in 226 1 in 126 | 1 in 538 1 in 751 1 in 1923 1 in 396 1 in 221 | 1 in 663124 <1 in 1,000,000 <1 in 1,000,000 1 in 357532 1 in 111132 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 625681 1 in 194481 | 1 in 2153 1 in 3003 1 in 7693 1 in 1582 1 in 882 | 1 in 1232 1 in 1716 1 in 4396 1 in 904 1 in 504 | 1 in 2153 1 in 3003 1 in 7693 1 in 1582 1 in 882 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

PRODH | Hyperprolinemia, type 1 | Autosomal recessive | General African/African American East Asian South Asian Latino | N/A N/A N/A N/A N/A | N/A N/A N/A N/A N/A | N/A N/A N/A N/A N/A | N/A N/A N/A N/A N/A | N/A N/A N/A N/A N/A | N/A N/A N/A N/A N/A | N/A N/A N/A N/A N/A | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

PROP1 | Pituitary hormone deficiency, combined, type 2 | Autosomal recessive | General African/African American East Asian South Asian Latino | 1 in 84 1 in 45 N/A N/A 1 in 584 | 1 in 8,299 1 in 4500 N/A N/A 1 in 58400 | <1 in 1,000,000 1 in 810000 N/A N/A <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 N/A N/A <1 in 1,000,000 | 1 in 33198 1 in 18000 N/A N/A 1 in 233600 | 1 in 336 1 in 180 N/A N/A 1 in 2336 | 1 in 33198 1 in 18000 N/A N/A 1 in 233600 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

PRPS1 | PRPS1-related disoders | X-linked | General African/African American East Asian South Asian Latino | <1 in 50,000 N/A N/A N/A N/A | <1 in 221,000 N/A N/A N/A N/A | 1 in 885701 N/A N/A N/A N/A | - - - - - | - - - - - | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 | - - - - - | - - - - - |

PSAP | Combined SAP deficiency | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 2,039 1 in 1941 N/A N/A 1 in 884 | 1 in 3,873 1 in 3688 N/A N/A 1 in 1680 | <1 in 1,000,000 <1 in 1,000,000 N/A N/A <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 N/A N/A <1 in 1,000,000 | 1 in 15493 1 in 14752 N/A N/A 1 in 6718 | 1 in 8156 1 in 7764 N/A N/A 1 in 3536 | 1 in 15493 1 in 14752 N/A N/A 1 in 6718 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

PTS | Hyperphenylalaninemia, BH4-deficient, type A | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 478 1 in 703 1 in 156 1 in 343 1 in 533 | 1 in 1,259 1 in 1853 1 in 411 1 in 904 1 in 1405 | <1 in 1,000,000 <1 in 1,000,000 1 in 256634 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 1 in 676581 <1 in 1,000,000 <1 in 1,000,000 | 1 in 5034 1 in 7413 1 in 1645 1 in 3617 1 in 5621 | 1 in 1912 1 in 2812 1 in 624 1 in 1372 1 in 2132 | 1 in 5034 1 in 7413 1 in 1645 1 in 3617 1 in 5621 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

PUS1 | Myopathy, lactic acidosis, and sideroblastic anemia, type 1 | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish | 1 in 4,496 1 in 1468 1 in 8209 1 in 178 1 in 1297 <1 in 500 | 1 in 5,722 1 in 1868 1 in 10448 1 in 227 1 in 1651 1 in 37633 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 161300 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 205291 <1 in 1,000,000 <1 in 1,000,000 | 1 in 22888 1 in 7473 1 in 41791 1 in 906 1 in 6603 1 in 150533 | 1 in 17984 1 in 5872 1 in 32836 1 in 712 1 in 5188 1 in 4516 | 1 in 22888 1 in 7473 1 in 41791 1 in 906 1 in 6603 1 in 150533 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

PYGM | McArdle disease | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish | 1 in 206 1 in 220 1 in 368 1 in 366 1 in 147 1 in 120 | 1 in 641 1 in 686 1 in 1148 1 in 1142 1 in 459 1 in 400 | 1 in 527854 1 in 604032 <1 in 1,000,000 <1 in 1,000,000 1 in 269680 1 in 192000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 841403 1 in 640000 | 1 in 2562 1 in 2746 1 in 4593 1 in 4568 1 in 1835 1 in 1600 | 1 in 824 1 in 880 1 in 1472 1 in 1464 1 in 588 1 in 480 | 1 in 2562 1 in 2746 1 in 4593 1 in 4568 1 in 1835 1 in 1600 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

QDPR | Hyperphenylalaninemia, BH4-deficient, type C | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 2,419 1 in 5766 1 in 9197 1 in 2641 1 in 8124 | 1 in 5,182 1 in 12356 1 in 19708 1 in 5659 1 in 17409 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 20730 1 in 49423 1 in 78831 1 in 22637 1 in 69634 | 1 in 9676 1 in 23064 1 in 36788 1 in 10564 1 in 32496 | 1 in 20730 1 in 49423 1 in 78831 1 in 22637 1 in 69634 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

RAB23 | Carpenter syndrome | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 673 1 in 395 N/A N/A N/A | 1 in 1,681 1 in 988 N/A N/A N/A | <1 in 1,000,000 <1 in 1,000,000 N/A N/A N/A | <1 in 1,000,000 <1 in 1,000,000 N/A N/A N/A | 1 in 6724 1 in 3950 N/A N/A N/A | 1 in 2692 1 in 1580 N/A N/A N/A | 1 in 6724 1 in 3950 N/A N/A N/A | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

RAG1 | Omenn syndrome; Severe combined immunodeficiency, B cell-negative | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 344 1 in 441 1 in 523 1 in 639 1 in 1109 | 1 in 614 1 in 788 1 in 934 1 in 1141 1 in 1980 | 1 in 844176 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 2454 1 in 3150 1 in 3736 1 in 4564 1 in 7921 | 1 in 1376 1 in 1764 1 in 2092 1 in 2556 1 in 4436 | 1 in 2454 1 in 3150 1 in 3736 1 in 4564 1 in 7921 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

RAG2 | Omenn syndrome; Severe combined immunodeficiency, B cell-negative | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish | 1 in 1,925 1 in 953 N/A 1 in 962 N/A 1 in 821 | 1 in 3,721 1 in 1842 N/A 1 in 1860 N/A 1 in 82100 | <1 in 1,000,000 <1 in 1,000,000 N/A <1 in 1,000,000 N/A <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 N/A <1 in 1,000,000 N/A <1 in 1,000,000 | 1 in 14883 1 in 7370 N/A 1 in 7439 N/A 1 in 328400 | 1 in 7700 1 in 3812 N/A 1 in 3848 N/A 1 in 3284 | 1 in 14883 1 in 7370 N/A 1 in 7439 N/A 1 in 328400 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

RAPSN | Fetal akinesia deformation sequence, type 2; Myasthenic syndrome, congenital, type 11, associated with AChR deficiency | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish | 1 in 165 1 in 1255 1 in 471 1 in 549 1 in 429 1 in 253 | 1 in 312 1 in 2378 1 in 892 1 in 1040 1 in 813 1 in 25300 | 1 in 205746 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 388719 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 1247 1 in 9512 1 in 3570 1 in 4161 1 in 3251 1 in 101200 | 1 in 660 1 in 5020 1 in 1884 1 in 2196 1 in 1716 1 in 1012 | 1 in 1247 1 in 9512 1 in 3570 1 in 4161 1 in 3251 1 in 101200 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

RARS2 | Pontocerebellar hypoplasia, type 6 | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish | 1 in 269 1 in 109 1 in 70 1 in 260 1 in 158 1 in 89 | 1 in 365 1 in 148 1 in 95 1 in 353 1 in 214 1 in 2967 | 1 in 392433 1 in 64497 1 in 26600 1 in 366971 1 in 135519 <1 in 1,000,000 | 1 in 532066 1 in 87531 1 in 36100 1 in 498033 1 in 183918 <1 in 1,000,000 | 1 in 1459 1 in 592 1 in 380 1 in 1411 1 in 858 1 in 11867 | 1 in 1076 1 in 436 1 in 280 1 in 1040 1 in 632 1 in 356 | 1 in 1459 1 in 592 1 in 380 1 in 1411 1 in 858 1 in 11867 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

RAX | Isolated microphthalmia, type 3 | Autosomal recessive | General African/African American East Asian South Asian Latino | 1 in 159 N/A N/A N/A N/A | 1 in 475 N/A N/A N/A N/A | 1 in 302100 N/A N/A N/A N/A | 1 in 902500 N/A N/A N/A N/A | 1 in 1900 N/A N/A N/A N/A | 1 in 636 N/A N/A N/A N/A | 1 in 1900 N/A N/A N/A N/A | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

RDH12 | Leber congenital amaurosis, type 13 | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 456 1 in 302 1 in 877 1 in 549 1 in 290 | 1 in 696 1 in 461 1 in 1340 1 in 839 1 in 443 | <1 in 1,000,000 1 in 557358 <1 in 1,000,000 <1 in 1,000,000 1 in 513944 | <1 in 1,000,000 1 in 851519 <1 in 1,000,000 <1 in 1,000,000 1 in 785193 | 1 in 2785 1 in 1846 1 in 5359 1 in 3355 1 in 1772 | 1 in 1824 1 in 1208 1 in 3508 1 in 2196 1 in 1160 | 1 in 2785 1 in 1846 1 in 5359 1 in 3355 1 in 1772 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

RMRP | Anauxetic dysplasia, type 1 | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 143 1 in 303 1 in 413 1 in 294 1 in 719 | N/A N/A N/A N/A N/A | N/A N/A N/A N/A N/A | N/A N/A N/A N/A N/A | N/A N/A N/A N/A N/A | 1 in 572 1 in 1212 1 in 1652 1 in 1176 1 in 2876 | N/A N/A N/A N/A N/A | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

RNASEH2C | Aicardi-Goutieres syndrome, type 3 | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 1,525 1 in 4272 1 in 2928 1 in 374 1 in 2703 | 1 in 3,557 1 in 9968 1 in 6832 1 in 873 1 in 6307 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 14228 1 in 39872 1 in 27328 1 in 3491 1 in 25228 | 1 in 6100 1 in 17088 1 in 11712 1 in 1496 1 in 10812 | 1 in 14228 1 in 39872 1 in 27328 1 in 3491 1 in 25228 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

RP2 | Retinitis pigmentosa, type 2, X-linked | X-linked | General African/African American East Asian South Asian Latino | 1 in 177,778 N/A N/A N/A N/A | 1 in 249,736 N/A N/A N/A N/A | 1 in 998943 N/A N/A N/A N/A | - - - - - | - - - - - | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 | - - - - - | - - - - - |

RPE65 | RPE65-related Leber congenital amaurosis/early-onset severe retinal dystrophy | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish Sephardic Jewish | 1 in 366 1 in 190 1 in 289 1 in 265 1 in 345 <1 in 500 1 in 90 | 1 in 496 1 in 258 1 in 392 1 in 360 1 in 468 1 in 164167 1 in 3000 | 1 in 726667 1 in 195971 1 in 453400 1 in 381221 1 in 646136 <1 in 1,000,000 <1 in 1,000,000 | 1 in 985482 1 in 265961 1 in 615328 1 in 517372 1 in 876898 <1 in 1,000,000 <1 in 1,000,000 | 1 in 1985 1 in 1031 1 in 1569 1 in 1439 1 in 1873 1 in 656667 1 in 12000 | 1 in 1464 1 in 760 1 in 1156 1 in 1060 1 in 1380 1 in 19700 1 in 360 | 1 in 1985 1 in 1031 1 in 1569 1 in 1439 1 in 1873 1 in 656667 1 in 12000 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

RPGR | Retinitis pigmentosa, type 3, X-linked; Cone-rod dystrophy, X-linked, 1 | X-linked | General African/African American East Asian South Asian Latino | 1 in 31,373 N/A N/A N/A N/A | 1 in 35,705 N/A N/A N/A N/A | 1 in 142819 N/A N/A N/A N/A | - - - - - | - - - - - | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 | - - - - - | - - - - - |

RPGRIP1L | Joubert syndrome, type 7; Meckel syndrome, type 5; COACH syndrome | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 319 1 in 257 1 in 197 1 in 528 1 in 619 | 1 in 860 1 in 694 1 in 532 1 in 1426 1 in 1671 | <1 in 1,000,000 1 in 713329 1 in 419137 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 3438 1 in 2776 1 in 2128 1 in 5702 1 in 6685 | 1 in 1276 1 in 1028 1 in 788 1 in 2112 1 in 2476 | 1 in 3438 1 in 2776 1 in 2128 1 in 5702 1 in 6685 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

RS1 | Retinoschisis | X-linked | Caucasian/European African/African American East Asian South Asian Latino | 1 in 25,000 1 in 25000 N/A N/A 1 in 25000 | 1 in 44,241 1 in 44242 N/A N/A 1 in 44242 | 1 in 176965 1 in 176968 N/A N/A 1 in 176968 | - - - - - | - - - - - | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 | - - - - - | - - - - - |

RTEL1 | Dyskeratosis congenita, autosomal recessive type 5 | Autosomal recessive* | Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish | 1 in 800 1 in 756 1 in 385 1 in 730 1 in 1385 ≤1 in 165 | N/A N/A N/A N/A N/A 1 in 6068 | N/A N/A N/A N/A N/A <1 in 1,000,000 | N/A N/A N/A N/A N/A <1 in 1,000,000 | N/A N/A N/A N/A N/A 1 in 24272 | 1 in 3200 1 in 3024 1 in 1540 1 in 2920 1 in 5540 1 in 728 | N/A N/A N/A N/A N/A 1 in 24272 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

SACS | Spastic ataxia, Charlevoix-Saguenay, type | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 100 1 in 201 1 in 338 1 in 383 1 in 309 | 1 in 146 1 in 295 1 in 496 1 in 562 1 in 453 | 1 in 58502 1 in 237108 1 in 670481 1 in 860896 1 in 560364 | 1 in 85561 1 in 347887 1 in 983739 <1 in 1,000,000 1 in 822173 | 1 in 585 1 in 1180 1 in 1984 1 in 2248 1 in 1813 | 1 in 400 1 in 804 1 in 1352 1 in 1532 1 in 1236 | 1 in 585 1 in 1180 1 in 1984 1 in 2248 1 in 1813 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

SAG | Oguchi disease, type 1 | Autosomal recessive | General African/African American East Asian South Asian Latino | N/A N/A N/A N/A N/A | N/A N/A N/A N/A N/A | N/A N/A N/A N/A N/A | N/A N/A N/A N/A N/A | N/A N/A N/A N/A N/A | N/A N/A N/A N/A N/A | N/A N/A N/A N/A N/A | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

SAMHD1 | Aicardi-Goutieres syndrome, type 5 | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 610 1 in 2428 1 in 355 1 in 3837 1 in 2032 | 1 in 1,147 1 in 4570 1 in 668 1 in 7223 1 in 3825 | <1 in 1,000,000 <1 in 1,000,000 1 in 948894 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 4589 1 in 18281 1 in 2673 1 in 28890 1 in 15300 | 1 in 2440 1 in 9712 1 in 1420 1 in 15348 1 in 8128 | 1 in 4589 1 in 18281 1 in 2673 1 in 28890 1 in 15300 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

SBDS | Shwachman-Diamond syndrome | Autosomal recessive | General African/African American East Asian South Asian Latino | 1 in 224 N/A N/A N/A N/A | 1 in 804 N/A N/A N/A N/A | 1 in 720900 N/A N/A N/A N/A | <1 in 1,000,000 N/A N/A N/A N/A | 1 in 3217 N/A N/A N/A N/A | 1 in 896 N/A N/A N/A N/A | 1 in 3217 N/A N/A N/A N/A | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

SEPSECS | Pontocerebellar hypoplasia, type 2D | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish Sephardic Jewish | 1 in 656 1 in 711 1 in 154 1 in 470 1 in 672 <1 in 500 1 in 41 | 1 in 743 1 in 806 1 in 175 1 in 533 1 in 762 1 in 55500 1 in 1367 | <1 in 1,000,000 <1 in 1,000,000 1 in 107513 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 224133 | <1 in 1,000,000 <1 in 1,000,000 1 in 121848 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 2973 1 in 3223 1 in 698 1 in 2131 1 in 3046 1 in 222000 1 in 5467 | 1 in 2624 1 in 2844 1 in 616 1 in 1880 1 in 2688 1 in 6660 1 in 164 | 1 in 2973 1 in 3223 1 in 698 1 in 2131 1 in 3046 1 in 222000 1 in 5467 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

SERPINA1 | Alpha-1 antitrypsin deficiency | Autosomal recessive | General African/African American East Asian South Asian Latino | 1 in 24 1 in 35 N/A N/A 1 in 35 | <1 in 469 1 in 700 N/A N/A 1 in 700 | 1 in 45754 1 in 98000 N/A N/A 1 in 98000 | 1 in 879453 <1 in 1,000,000 N/A N/A <1 in 1,000,000 | 1 in 1876 1 in 2800 N/A N/A 1 in 2800 | 1 in 98 1 in 140 N/A N/A 1 in 140 | 1 in 1876 1 in 2800 N/A N/A 1 in 2800 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

SGCA | Limb-girdle muscular dystrophy, type 3 (LGMD R3) | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 288 1 in 427 1 in 2202 1 in 1539 1 in 951 | 1 in 1,938 1 in 2882 1 in 14864 1 in 10388 1 in 6419 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 7753 1 in 11529 1 in 59454 1 in 41553 1 in 25677 | 1 in 1152 1 in 1708 1 in 8808 1 in 6156 1 in 3804 | 1 in 7753 1 in 11529 1 in 59454 1 in 41553 1 in 25677 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

SGCB | Limb-girdle muscular dystrophy, type 4 (LGMD R4) | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 628 1 in 653 1 in 1437 1 in 373 1 in 3358 | 1 in 2,330 1 in 2425 1 in 5337 1 in 1385 1 in 12473 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 9319 1 in 9702 1 in 21350 1 in 5542 1 in 49890 | 1 in 2512 1 in 2612 1 in 5748 1 in 1492 1 in 13432 | 1 in 9319 1 in 9702 1 in 21350 1 in 5542 1 in 49890 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

SGCD | Limb-girdle muscular dystrophy, type 6 (LGMD R6) | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 3,766 1 in 3799 1 in 6454 1 in 6537 1 in 1897 | 1 in 11,296 1 in 11397 1 in 19362 1 in 19611 1 in 5691 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 45184 1 in 45588 1 in 77448 1 in 78444 1 in 22764 | 1 in 15064 1 in 15196 1 in 25816 1 in 26148 1 in 7588 | 1 in 45184 1 in 45588 1 in 77448 1 in 78444 1 in 22764 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

SGCG | Limb-girdle muscular dystrophy, type 5 (LGMD R5) | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 1,132 1 in 828 1 in 380 1 in 2955 1 in 2105 | 1 in 5,468 1 in 4002 1 in 1837 1 in 14283 1 in 10174 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 21870 1 in 16008 1 in 7347 1 in 57130 1 in 40697 | 1 in 4528 1 in 3312 1 in 1520 1 in 11820 1 in 8420 | 1 in 21870 1 in 16008 1 in 7347 1 in 57130 1 in 40697 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

SGSH | Mucopolysaccharidosis, type 3A (Sanfilippo A) | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 253 1 in 470 1 in 216 1 in 459 1 in 436 | 1 in 1,261 1 in 2350 1 in 1080 1 in 2295 1 in 2180 | <1 in 1,000,000 <1 in 1,000,000 1 in 933120 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 5044 1 in 9400 1 in 4320 1 in 9180 1 in 8720 | 1 in 1012 1 in 1880 1 in 864 1 in 1836 1 in 1744 | 1 in 5044 1 in 9400 1 in 4320 1 in 9180 1 in 8720 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

SH2D1A | Lymphoproliferative syndrome, X-linked, type 1 | X-linked | General African/African American East Asian South Asian Latino | <1 in 500,000 N/A N/A N/A N/A | <1 in 829,000 N/A N/A N/A N/A | <1 in 1,000,000 N/A N/A N/A N/A | - - - - - | - - - - - | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 | - - - - - | - - - - - |

SH3TC2 | Charcot-Marie-Tooth disease, type 4C | Autosomal recessive | General African/African American East Asian South Asian Latino | 1 in 72 N/A N/A N/A N/A | 1 in 184 N/A N/A N/A N/A | 1 in 52869 N/A N/A N/A N/A | 1 in 134794 N/A N/A N/A N/A | 1 in 734 N/A N/A N/A N/A | 1 in 288 N/A N/A N/A N/A | 1 in 734 N/A N/A N/A N/A | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

SLC12A3 | Gitelman syndrome | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 73 1 in 138 1 in 28 1 in 145 1 in 131 | 1 in 97 1 in 184 1 in 37 1 in 193 1 in 175 | 1 in 28324 1 in 101568 1 in 4181 1 in 112133 1 in 91525 | 1 in 37636 1 in 135424 1 in 5575 1 in 149511 1 in 122034 | 1 in 388 1 in 736 1 in 149 1 in 773 1 in 699 | 1 in 292 1 in 552 1 in 112 1 in 580 1 in 524 | 1 in 388 1 in 736 1 in 149 1 in 773 1 in 699 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

SLC12A6 | Agenesis of the corpus callosum with peripheral neuropathy | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 1,515 1 in 500 1 in 2872 1 in 2564 1 in 764 | 1 in 151,401 1 in 50000 1 in 287200 1 in 256400 1 in 76400 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 605604 1 in 200000 <1 in 1,000,000 <1 in 1,000,000 1 in 305600 | 1 in 6060 1 in 2000 1 in 11488 1 in 10256 1 in 3056 | 1 in 605604 1 in 200000 <1 in 1,000,000 <1 in 1,000,000 1 in 305600 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

SLC16A2 | Allan-Herndon-Dudley syndrome | X-linked | General African/African American East Asian South Asian Latino | 1 in 50,000 N/A N/A N/A N/A | 1 in 67,647 N/A N/A N/A N/A | 1 in 270587 N/A N/A N/A N/A | - - - - - | - - - - - | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 | - - - - - | - - - - - |

SLC17A5 | Salla disease | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 328 1 in 853 1 in 1723 1 in 3847 1 in 777 | 1 in 32,701 1 in 85300 1 in 172300 1 in 384700 1 in 77700 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 130804 1 in 341200 1 in 689200 <1 in 1,000,000 1 in 310800 | 1 in 1312 1 in 3412 1 in 6892 1 in 15388 1 in 3108 | 1 in 130804 1 in 341200 1 in 689200 <1 in 1,000,000 1 in 310800 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

SLC19A2 | Thiamine-responsive megaloblastic anemia syndrome | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 500 1 in 500 N/A N/A 1 in 500 | 1 in 888 1 in 889 N/A N/A 1 in 889 | <1 in 1,000,000 <1 in 1,000,000 N/A N/A <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 N/A N/A <1 in 1,000,000 | 1 in 3552 1 in 3556 N/A N/A 1 in 3556 | 1 in 2000 1 in 2000 N/A N/A 1 in 2000 | 1 in 3552 1 in 3556 N/A N/A 1 in 3556 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

SLC22A5 | Carnitine deficiency, systemic primary | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 251 1 in 98 1 in 69 1 in 51 1 in 268 | 1 in 544 1 in 213 1 in 150 1 in 111 1 in 582 | 1 in 546162 1 in 83437 1 in 41363 1 in 22597 1 in 623991 | <1 in 1,000,000 1 in 181222 1 in 89837 1 in 49079 <1 in 1,000,000 | 1 in 2176 1 in 851 1 in 599 1 in 443 1 in 2328 | 1 in 1004 1 in 392 1 in 276 1 in 204 1 in 1072 | 1 in 2176 1 in 851 1 in 599 1 in 443 1 in 2328 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

SLC25A13 | Citrullinemia, type 2, neonatal-onset; Citrullinemia, type 2, adult-onset | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 619 1 in 435 1 in 48 1 in 496 1 in 990 | 1 in 1,426 1 in 1003 1 in 111 1 in 1143 1 in 2282 | <1 in 1,000,000 <1 in 1,000,000 1 in 21244 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 1 in 48968 <1 in 1,000,000 <1 in 1,000,000 | 1 in 5702 1 in 4011 1 in 443 1 in 4573 1 in 9128 | 1 in 2476 1 in 1740 1 in 192 1 in 1984 1 in 3960 | 1 in 5702 1 in 4011 1 in 443 1 in 4573 1 in 9128 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

SLC25A15 | Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 1,283 1 in 898 1 in 302 1 in 1924 1 in 1119 | 1 in 4,820 1 in 3375 1 in 1135 1 in 7232 1 in 4206 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 19279 1 in 13502 1 in 4541 1 in 28928 1 in 16824 | 1 in 5132 1 in 3592 1 in 1208 1 in 7696 1 in 4476 | 1 in 19279 1 in 13502 1 in 4541 1 in 28928 1 in 16824 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

SLC25A20 | Carnitine-acylcarnitine translocase deficiency | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 1,988 1 in 1902 1 in 485 1 in 2188 1 in 808 | 1 in 7,949 1 in 7608 1 in 1940 1 in 8752 1 in 3232 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 31796 1 in 30432 1 in 7760 1 in 35008 1 in 12928 | 1 in 7952 1 in 7608 1 in 1940 1 in 8752 1 in 3232 | 1 in 31796 1 in 30432 1 in 7760 1 in 35008 1 in 12928 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

SLC26A2 | Achondrogenesis, type 1B (diastrophic dysplasia) | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 129 1 in 341 1 in 510 1 in 853 1 in 248 | 1 in 428 1 in 1137 1 in 1700 1 in 2843 1 in 827 | 1 in 220676 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 820053 | 1 in 731595 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 1711 1 in 4547 1 in 6800 1 in 11373 1 in 3307 | 1 in 516 1 in 1364 1 in 2040 1 in 3412 1 in 992 | 1 in 1711 1 in 4547 1 in 6800 1 in 11373 1 in 3307 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

SLC26A3 | Diarrhea 1, secretory chloride, congenital | Autosomal recessive | General African/African American East Asian South Asian Latino | N/A N/A N/A N/A N/A | N/A N/A N/A N/A N/A | N/A N/A N/A N/A N/A | N/A N/A N/A N/A N/A | N/A N/A N/A N/A N/A | N/A N/A N/A N/A N/A | N/A N/A N/A N/A N/A | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

SLC26A4 | Deafness, autosomal recessive, type 4; Pendred syndrome | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 88 1 in 76 1 in 31 1 in 60 1 in 135 | 1 in 403 1 in 351 1 in 143 1 in 277 1 in 624 | 1 in 141885 1 in 106778 1 in 17766 1 in 66551 1 in 336916 | 1 in 649897 1 in 493487 1 in 82105 1 in 307575 <1 in 1,000,000 | 1 in 1612 1 in 1405 1 in 573 1 in 1109 1 in 2496 | 1 in 352 1 in 304 1 in 124 1 in 240 1 in 540 | 1 in 1612 1 in 1405 1 in 573 1 in 1109 1 in 2496 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

SLC35A1 | Congenital disorder of glycosylation, type 2F | Autosomal recessive | General African/African American East Asian South Asian Latino | <1 in 500 N/A N/A N/A N/A | <1 in 1,500 N/A N/A N/A N/A | <1 in 1,000,000 N/A N/A N/A N/A | <1 in 1,000,000 N/A N/A N/A N/A | 1 in 5998 N/A N/A N/A N/A | 1 in 2002 N/A N/A N/A N/A | 1 in 5998 N/A N/A N/A N/A | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

SLC35A3 | ?Arthrogryposis, mental retardation, and seizures | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish | 1 in 4,537 1 in 3999 N/A 1 in 3996 1 in 3356 1 in 453 | 1 in 6,805 1 in 5999 N/A 1 in 5994 1 in 5034 1 in 15100 | <1 in 1,000,000 <1 in 1,000,000 N/A <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 N/A <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 27220 1 in 23994 N/A 1 in 23976 1 in 20136 1 in 60400 | 1 in 18148 1 in 15996 N/A 1 in 15984 1 in 13424 1 in 1812 | 1 in 27220 1 in 23994 N/A 1 in 23976 1 in 20136 1 in 60400 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

SLC35C1 | Congenital disorder of glycosylation, type 2C | Autosomal recessive | General African/African American East Asian South Asian Latino | N/A N/A N/A N/A N/A | N/A N/A N/A N/A N/A | N/A N/A N/A N/A N/A | N/A N/A N/A N/A N/A | N/A N/A N/A N/A N/A | N/A N/A N/A N/A N/A | N/A N/A N/A N/A N/A | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

SLC35D1 | Schneckenbecken dysplasia | Autosomal recessive | General African/African American East Asian South Asian Latino | N/A N/A N/A N/A N/A | N/A N/A N/A N/A N/A | N/A N/A N/A N/A N/A | N/A N/A N/A N/A N/A | N/A N/A N/A N/A N/A | N/A N/A N/A N/A N/A | N/A N/A N/A N/A N/A | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

SLC37A4 | Glycogen storage disease, type 1B | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 597 1 in 1414 1 in 511 1 in 821 1 in 979 | 1 in 1,677 1 in 3646 1 in 1318 1 in 2117 1 in 2525 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 6709 1 in 14586 1 in 5271 1 in 8469 1 in 10099 | 1 in 2388 1 in 5656 1 in 2044 1 in 3284 1 in 3916 | 1 in 6709 1 in 14586 1 in 5271 1 in 8469 1 in 10099 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

SLC39A4 | Acrodermatitis enteropathica | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 316 1 in 421 1 in 1248 1 in 1099 1 in 1300 | 1 in 335 1 in 468 1 in 1387 1 in 1221 1 in 1444 | 1 in 422845 1 in 787738 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 447640 1 in 875264 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 1338 1 in 1871 1 in 5547 1 in 4884 1 in 5778 | 1 in 1264 1 in 1684 1 in 4992 1 in 4396 1 in 5200 | 1 in 1338 1 in 1871 1 in 5547 1 in 4884 1 in 5778 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

SLC3A1 | Cystinuria | Autosomal recessive* | General African/African American East Asian South Asian Latino | 1 in 42 N/A N/A N/A N/A | 1 in 84 N/A N/A N/A N/A | 1 in 14171 N/A N/A N/A N/A | 1 in 28008 N/A N/A N/A N/A | 1 in 335 N/A N/A N/A N/A | 1 in 169 N/A N/A N/A N/A | 1 in 335 N/A N/A N/A N/A | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

SLC45A2 | Albinism, oculocutaneous, type 4 | Autosomal recessive | General African/African American East Asian South Asian Latino | <1 in 500 N/A N/A N/A N/A | <1 in 1,600 N/A N/A N/A N/A | <1 in 1,000,000 N/A N/A N/A N/A | <1 in 1,000,000 N/A N/A N/A N/A | 1 in 6398 N/A N/A N/A N/A | 1 in 2002 N/A N/A N/A N/A | 1 in 6398 N/A N/A N/A N/A | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

SLC46A1 | Folate malabsorption, hereditary | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 2,468 1 in 2698 1 in 1773 1 in 1256 1 in 3964 | 1 in 13,981 1 in 15289 1 in 10047 1 in 7117 1 in 22463 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 55923 1 in 61155 1 in 40188 1 in 28469 1 in 89851 | 1 in 9872 1 in 10792 1 in 7092 1 in 5024 1 in 15856 | 1 in 55923 1 in 61155 1 in 40188 1 in 28469 1 in 89851 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

SLC4A11 | Corneal endothelial dystrophy, autosomal recessive | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 806 1 in 373 1 in 316 1 in 1183 1 in 770 | 1 in 1,921 1 in 889 1 in 754 1 in 2821 1 in 1836 | <1 in 1,000,000 <1 in 1,000,000 1 in 952473 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 7682 1 in 3558 1 in 3014 1 in 11284 1 in 7345 | 1 in 3224 1 in 1492 1 in 1264 1 in 4732 1 in 3080 | 1 in 7682 1 in 3558 1 in 3014 1 in 11284 1 in 7345 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

SLC5A5 | Thyroid dyshormonogenesis, type 1 | Autosomal recessive | General African/African American East Asian South Asian Latino | 1 in 72 N/A N/A N/A N/A | 1 in 96 N/A N/A N/A N/A | 1 in 27552 N/A N/A N/A N/A | 1 in 36608 N/A N/A N/A N/A | 1 in 383 N/A N/A N/A N/A | 1 in 288 N/A N/A N/A N/A | 1 in 383 N/A N/A N/A N/A | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

SLC6A19 | Hartnup disorder | Autosomal recessive | General African/African American East Asian South Asian Latino | 1 in 87 N/A N/A N/A N/A | 1 in 124 N/A N/A N/A N/A | 1 in 43207 N/A N/A N/A N/A | 1 in 61512 N/A N/A N/A N/A | 1 in 496 N/A N/A N/A N/A | 1 in 348 N/A N/A N/A N/A | 1 in 496 N/A N/A N/A N/A | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

SLC6A8 | Cerebral creatine deficiency syndrome, type 1 | X-linked | General African/African American East Asian South Asian Latino | N/A N/A N/A N/A N/A | N/A N/A N/A N/A N/A | N/A N/A N/A N/A N/A | - - - - - | - - - - - | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 | - - - - - | - - - - - |

SLC7A7 | Lysinuric protein intolerance | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 522 1 in 595 1 in 724 1 in 1283 1 in 2821 | 1 in 1,490 1 in 1700 1 in 2069 1 in 3666 1 in 8060 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 5958 1 in 6800 1 in 8274 1 in 14663 1 in 32240 | 1 in 2088 1 in 2380 1 in 2896 1 in 5132 1 in 11284 | 1 in 5958 1 in 6800 1 in 8274 1 in 14663 1 in 32240 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

SLC7A9 | Cystinuria | Autosomal recessive* | General African/African American East Asian South Asian Latino | 1 in 42 N/A N/A N/A N/A | 1 in 48 N/A N/A N/A N/A | 1 in 8208 N/A N/A N/A N/A | 1 in 9395 N/A N/A N/A N/A | 1 in 194 N/A N/A N/A N/A | 1 in 169 N/A N/A N/A N/A | 1 in 194 N/A N/A N/A N/A | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

SMARCAL1 | Schimke immunoosseous dysplasia | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 451 1 in 699 1 in 561 1 in 2565 1 in 2123 | 1 in 970 1 in 1506 1 in 1208 1 in 5525 1 in 4573 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 3881 1 in 6022 1 in 4833 1 in 22098 1 in 18290 | 1 in 1804 1 in 2796 1 in 2244 1 in 10260 1 in 8492 | 1 in 3881 1 in 6022 1 in 4833 1 in 22098 1 in 18290 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

SMN1 | Spinal muscular atrophy | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish | 1 in 36 1 in 72 1 in 53 1 in 103 1 in 68 1 in 53 | 1 in 869 1 in 244 1 in 757 1 in 792 1 in 680 1 in 565 | 1 in 124122 1 in 70292 1 in 160514 1 in 326431 1 in 184960 1 in 115013 | <1 in 1,000,000 1 in 238276 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 3475 1 in 976 1 in 3029 1 in 3169 1 in 2720 1 in 2261 | 1 in 143 1 in 288 1 in 212 1 in 412 1 in 272 1 in 203 | 1 in 3475 1 in 976 1 in 3029 1 in 3169 1 in 2720 1 in 2261 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

SMPD1 | Niemann-Pick disease, type A; Niemann-Pick disease, type B | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish | 1 in 350 1 in 120 1 in 81 1 in 327 1 in 106 1 in 103 | 1 in 1,556 1 in 535 1 in 361 1 in 1457 1 in 472 1 in 3366 | <1 in 1,000,000 1 in 256582 1 in 116905 <1 in 1,000,000 1 in 200205 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 1 in 520759 <1 in 1,000,000 1 in 891823 <1 in 1,000,000 | 1 in 6223 1 in 2138 1 in 1443 1 in 5827 1 in 1889 1 in 13463 | 1 in 1400 1 in 480 1 in 324 1 in 1308 1 in 424 1 in 404 | 1 in 6223 1 in 2138 1 in 1443 1 in 5827 1 in 1889 1 in 13463 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

SPG11 | Amyotrophic lateral sclerosis, type 5, juvenile | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 192 1 in 232 1 in 297 1 in 267 1 in 64 | 1 in 467 1 in 566 1 in 725 1 in 652 1 in 156 | 1 in 358757 1 in 525425 1 in 861088 1 in 695916 1 in 39985 | 1 in 872845 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 97582 | 1 in 1869 1 in 2265 1 in 2899 1 in 2606 1 in 625 | 1 in 768 1 in 928 1 in 1188 1 in 1068 1 in 256 | 1 in 1869 1 in 2265 1 in 2899 1 in 2606 1 in 625 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

SPG7 | Spastic paraplegia, type 7, autosomal recessive | Autosomal recessive | General African/African American East Asian South Asian Latino | 1 in 80 N/A N/A N/A N/A | 1 in 183 N/A N/A N/A N/A | 1 in 58265 N/A N/A N/A N/A | 1 in 133654 N/A N/A N/A N/A | 1 in 731 N/A N/A N/A N/A | 1 in 319 N/A N/A N/A N/A | 1 in 731 N/A N/A N/A N/A | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

SRD5A2 | 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency (pseudovaginal perineoscrotal hypospadias) | Autosomal recessive | General African/African American East Asian South Asian Latino | N/A N/A N/A N/A N/A | N/A N/A N/A N/A N/A | N/A N/A N/A N/A N/A | N/A N/A N/A N/A N/A | N/A N/A N/A N/A N/A | N/A N/A N/A N/A N/A | N/A N/A N/A N/A N/A | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

ST3GAL5 | Salt and pepper developmental regression syndrome | Autosomal recessive | General African/African American East Asian South Asian Latino | N/A N/A N/A N/A N/A | N/A N/A N/A N/A N/A | N/A N/A N/A N/A N/A | N/A N/A N/A N/A N/A | N/A N/A N/A N/A N/A | N/A N/A N/A N/A N/A | N/A N/A N/A N/A N/A | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

STAR | Lipoid adrenal hyperplasia | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 1,147 1 in 964 1 in 364 1 in 1399 1 in 731 | 1 in 14,326 1 in 12050 1 in 4550 1 in 17488 1 in 9138 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 57304 1 in 48200 1 in 18200 1 in 69950 1 in 36550 | 1 in 4588 1 in 3856 1 in 1456 1 in 5596 1 in 2924 | 1 in 57304 1 in 48200 1 in 18200 1 in 69950 1 in 36550 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

SUMF1 | Multiple sulfatase deficiency | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish | 1 in 696 1 in 406 1 in 1437 1 in 834 1 in 1525 ≤1 in 279 | 1 in 2,665 1 in 1556 1 in 5509 1 in 3197 1 in 5846 1 in 9937 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 10661 1 in 6225 1 in 22034 1 in 12788 1 in 23383 1 in 39746 | 1 in 2784 1 in 1624 1 in 5748 1 in 3336 1 in 6100 1 in 1192 | 1 in 10661 1 in 6225 1 in 22034 1 in 12788 1 in 23383 1 in 39746 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

SURF1 | Charcot-Marie-Tooth disease, type 4K; Leigh syndrome, due to COX IV deficiency | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 191 1 in 256 1 in 61 1 in 302 1 in 89 | 1 in 329 1 in 441 1 in 105 1 in 521 1 in 153 | 1 in 251040 1 in 451972 1 in 25662 1 in 628993 1 in 54628 | 1 in 431876 1 in 779263 1 in 44245 <1 in 1,000,000 1 in 94185 | 1 in 1314 1 in 1766 1 in 421 1 in 2083 1 in 614 | 1 in 764 1 in 1024 1 in 244 1 in 1208 1 in 356 | 1 in 1314 1 in 1766 1 in 421 1 in 2083 1 in 614 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

SYN1 | Epilepsy, X-linked, with variable learning disabilities and behavior disorders | X-linked | General African/African American East Asian South Asian Latino | 1 in 45,000 N/A N/A N/A N/A | 1 in 55,588 N/A N/A N/A N/A | 1 in 222352 N/A N/A N/A N/A | - - - - - | - - - - - | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 | - - - - - | - - - - - |

TAT | Tyrosinemia, type 2 | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 2,190 1 in 5587 1 in 4450 1 in 2190 1 in 8126 | 1 in 5,352 1 in 13657 1 in 10878 1 in 5353 1 in 19864 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 21408 1 in 54628 1 in 43511 1 in 21413 1 in 79454 | 1 in 8760 1 in 22348 1 in 17800 1 in 8760 1 in 32504 | 1 in 21408 1 in 54628 1 in 43511 1 in 21413 1 in 79454 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

TCIRG1 | Osteopetrosis, autosomal recessive, type 1 | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish | 1 in 399 1 in 418 1 in 323 1 in 749 1 in 414 ≤1 in 350 | 1 in 1,195 1 in 1254 1 in 969 1 in 2247 1 in 1242 1 in 4087 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 4780 1 in 5016 1 in 3876 1 in 8988 1 in 4968 1 in 16347 | 1 in 1596 1 in 1672 1 in 1292 1 in 2996 1 in 1656 1 in 1635 | 1 in 4780 1 in 5016 1 in 3876 1 in 8988 1 in 4968 1 in 16347 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

TECPR2 | Spastic paraplegia, type 49, autosomal recessive | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish | 1 in 1,946 1 in 5649 1 in 823 1 in 5103 1 in 1983 1 in 152 | N/A N/A N/A N/A N/A 1 in 5067 | N/A N/A N/A N/A N/A <1 in 1,000,000 | N/A N/A N/A N/A N/A <1 in 1,000,000 | N/A N/A N/A N/A N/A 1 in 20267 | 1 in 7784 1 in 22596 1 in 3292 1 in 20412 1 in 7932 1 in 608 | N/A N/A N/A N/A N/A 1 in 20267 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

TFR2 | Hemochromatosis, type 3 | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 604 1 in 761 1 in 2749 1 in 1259 1 in 378 | 1 in 1,885 1 in 2378 1 in 8591 1 in 3934 1 in 1181 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 7542 1 in 9513 1 in 34363 1 in 15738 1 in 4725 | 1 in 2416 1 in 3044 1 in 10996 1 in 5036 1 in 1512 | 1 in 7542 1 in 9513 1 in 34363 1 in 15738 1 in 4725 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

TG | Thyroid dyshormonogenesis, type 3 | Autosomal recessive | General African/African American East Asian South Asian Latino | 1 in 159 N/A N/A N/A N/A | 1 in 268 N/A N/A N/A N/A | 1 in 170210 N/A N/A N/A N/A | 1 in 286493 N/A N/A N/A N/A | 1 in 1071 N/A N/A N/A N/A | 1 in 636 N/A N/A N/A N/A | 1 in 1071 N/A N/A N/A N/A | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

TGM1 | Ichthyosis, congenital, autosomal recessive, type 1 | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 186 1 in 205 1 in 279 1 in 79 1 in 562 | 1 in 758 1 in 839 1 in 1141 1 in 323 1 in 2299 | 1 in 563817 1 in 687682 <1 in 1,000,000 1 in 102125 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 417786 <1 in 1,000,000 | 1 in 3031 1 in 3355 1 in 4565 1 in 1293 1 in 9196 | 1 in 744 1 in 820 1 in 1116 1 in 316 1 in 2248 | 1 in 3031 1 in 3355 1 in 4565 1 in 1293 1 in 9196 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

TH | Segawa syndrome, recessive | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 856 1 in 809 1 in 306 1 in 2145 1 in 1121 | 1 in 2,566 1 in 2427 1 in 918 1 in 6435 1 in 3363 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 10264 1 in 9708 1 in 3672 1 in 25740 1 in 13452 | 1 in 3424 1 in 3236 1 in 1224 1 in 8580 1 in 4484 | 1 in 10264 1 in 9708 1 in 3672 1 in 25740 1 in 13452 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

THOC2 | Mental retardation, X-linked 12 | X-linked | General African/African American East Asian South Asian Latino | 1 in 500,000 N/A N/A N/A N/A | N/A N/A N/A N/A N/A | N/A N/A N/A N/A N/A | - - - - - | - - - - - | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 | - - - - - | - - - - - |

TMEM216 | Joubert syndrome, type 2; Meckel syndrome, type 2 | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish | 1 in 1,521 1 in 3364 N/A 1 in 3526 1 in 2035 1 in 92 | 1 in 152,001 1 in 336400 N/A 1 in 352600 1 in 203500 1 in 9200 | <1 in 1,000,000 <1 in 1,000,000 N/A <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 N/A <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 608004 <1 in 1,000,000 N/A <1 in 1,000,000 1 in 814000 1 in 36800 | 1 in 6084 1 in 13456 N/A 1 in 14104 1 in 8140 1 in 368 | 1 in 608004 <1 in 1,000,000 N/A <1 in 1,000,000 1 in 814000 1 in 36800 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

TMEM67 | Joubert syndrome, type 6; Meckel syndrome, type 3; COACH syndrome | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 147 1 in 233 1 in 132 1 in 206 1 in 309 | 1 in 284 1 in 451 1 in 256 1 in 399 1 in 599 | 1 in 166919 1 in 420740 1 in 135036 1 in 328879 1 in 739978 | 1 in 322340 1 in 815183 1 in 261632 1 in 637203 <1 in 1,000,000 | 1 in 1136 1 in 1806 1 in 1023 1 in 1597 1 in 2395 | 1 in 588 1 in 932 1 in 528 1 in 824 1 in 1236 | 1 in 1136 1 in 1806 1 in 1023 1 in 1597 1 in 2395 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

TMPRSS3 | Deafness, autosomal recessive, type 8/10 | Autosomal recessive | General African/African American East Asian South Asian Latino | N/A N/A N/A N/A N/A | N/A N/A N/A N/A N/A | N/A N/A N/A N/A N/A | N/A N/A N/A N/A N/A | N/A N/A N/A N/A N/A | N/A N/A N/A N/A N/A | N/A N/A N/A N/A N/A | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

TPO | Thyroid dyshormonogenesis, type 2A | Autosomal recessive | General African/African American East Asian South Asian Latino | 1 in 72 N/A N/A N/A N/A | 1 in 84 N/A N/A N/A N/A | 1 in 24144 N/A N/A N/A N/A | 1 in 28112 N/A N/A N/A N/A | 1 in 335 N/A N/A N/A N/A | 1 in 288 N/A N/A N/A N/A | 1 in 335 N/A N/A N/A N/A | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

TPP1 | Ceroid lipofuscinosis, neuronal, type 2; Spinocerebellar ataxia, autosomal recessive, type 7 | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 266 1 in 833 1 in 1480 1 in 2199 1 in 568 | 1 in 1,591 1 in 4998 1 in 8880 1 in 13194 1 in 3408 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 6364 1 in 19992 1 in 35520 1 in 52776 1 in 13632 | 1 in 1064 1 in 3332 1 in 5920 1 in 8796 1 in 2272 | 1 in 6364 1 in 19992 1 in 35520 1 in 52776 1 in 13632 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

TRDN | Ventricular tachycardia, catecholaminergic polymorphic, type 5, with or without muscle weakness | Autosomal recessive | General African/African American East Asian South Asian Latino | 1 in 51 N/A N/A N/A N/A | 1 in 71 N/A N/A N/A N/A | 1 in 14484 N/A N/A N/A N/A | 1 in 20164 N/A N/A N/A N/A | 1 in 284 N/A N/A N/A N/A | 1 in 204 N/A N/A N/A N/A | 1 in 284 N/A N/A N/A N/A | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

TREX1 | Aicardi-Goutieres syndrome, type 1 | Autosomal recessive | General African/African American East Asian South Asian Latino | 1 in 98 N/A N/A N/A N/A | 1 in 186 N/A N/A N/A N/A | 1 in 73260 N/A N/A N/A N/A | 1 in 138869 N/A N/A N/A N/A | 1 in 745 N/A N/A N/A N/A | 1 in 393 N/A N/A N/A N/A | 1 in 745 N/A N/A N/A N/A | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

TRIM32 | Limb-girdle muscular dystrophy, type 8 (LGMD R8) | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 226 1 in 665 1 in 920 1 in 300 1 in 674 | 1 in 376 1 in 1108 1 in 1533 1 in 500 1 in 1123 | 1 in 339904 <1 in 1,000,000 <1 in 1,000,000 1 in 600000 <1 in 1,000,000 | 1 in 565504 <1 in 1,000,000 <1 in 1,000,000 1 in 1000000 <1 in 1,000,000 | 1 in 1504 1 in 4433 1 in 6133 1 in 2000 1 in 4493 | 1 in 904 1 in 2660 1 in 3680 1 in 1200 1 in 2696 | 1 in 1504 1 in 4433 1 in 6133 1 in 2000 1 in 4493 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

TRIM37 | Mulibrey nanism | Autosomal recessive | General African/African American East Asian South Asian Latino | N/A N/A N/A N/A N/A | N/A N/A N/A N/A N/A | N/A N/A N/A N/A N/A | N/A N/A N/A N/A N/A | N/A N/A N/A N/A N/A | N/A N/A N/A N/A N/A | N/A N/A N/A N/A N/A | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

TRMU | Liver failure, transient infantile | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish Sephardic Jewish | 1 in 789 1 in 1045 1 in 920 1 in 300 1 in 606 1 in 1232 1 in 34 | 1 in 1,001 1 in 1326 1 in 1168 1 in 381 1 in 769 1 in 41067 1 in 170 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 456923 <1 in 1,000,000 <1 in 1,000,000 1 in 23120 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 579941 <1 in 1,000,000 <1 in 1,000,000 1 in 115600 | 1 in 4005 1 in 5305 1 in 4671 1 in 1523 1 in 3077 1 in 164267 1 in 680 | 1 in 3156 1 in 4180 1 in 3680 1 in 1200 1 in 2424 1 in 4928 1 in 136 | 1 in 4005 1 in 5305 1 in 4671 1 in 1523 1 in 3077 1 in 164267 1 in 680 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

TSEN54 | Pontocerebellar hypoplasia, type 2A; Pontocerebellar hypoplasia, type 4 | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 223 1 in 491 1 in 186 1 in 686 1 in 260 | 1 in 3,997 1 in 8838 1 in 3348 1 in 12348 1 in 4680 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 15988 1 in 35352 1 in 13392 1 in 49392 1 in 18720 | 1 in 892 1 in 1964 1 in 744 1 in 2744 1 in 1040 | 1 in 15988 1 in 35352 1 in 13392 1 in 49392 1 in 18720 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

TSFM | Combined oxidative phosphorylation deficiency, type 3 | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 535 1 in 681 N/A N/A 1 in 1796 | 1 in 611 1 in 778 N/A N/A 1 in 2053 | <1 in 1,000,000 <1 in 1,000,000 N/A N/A <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 N/A N/A <1 in 1,000,000 | 1 in 2445 1 in 3113 N/A N/A 1 in 8210 | 1 in 2140 1 in 2724 N/A N/A 1 in 7184 | 1 in 2445 1 in 3113 N/A N/A 1 in 8210 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

TSHB | Hypothyroidism, congenital, nongoitrous, type 4 | Autosomal recessive | General African/African American East Asian South Asian Latino | 1 in 62 N/A N/A N/A N/A | 1 in 306 N/A N/A N/A N/A | 1 in 75675 N/A N/A N/A N/A | 1 in 373488 N/A N/A N/A N/A | 1 in 1222 N/A N/A N/A N/A | 1 in 248 N/A N/A N/A N/A | 1 in 1222 N/A N/A N/A N/A | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

TSHR | Hypothyroidism, congenital, nongoitrous, type 1 | Autosomal recessive | General African/African American East Asian South Asian Latino | 1 in 62 N/A N/A N/A N/A | 1 in 189 N/A N/A N/A N/A | 1 in 46876 N/A N/A N/A N/A | 1 in 143306 N/A N/A N/A N/A | 1 in 757 N/A N/A N/A N/A | 1 in 248 N/A N/A N/A N/A | 1 in 757 N/A N/A N/A N/A | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

TTC37 | Trichohepatoenteric syndrome, type 1 (diarrhea, syndromic) | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 634 1 in 640 1 in 171 1 in 213 1 in 625 | 1 in 951 1 in 960 1 in 257 1 in 320 1 in 938 | <1 in 1,000,000 <1 in 1,000,000 1 in 175446 1 in 272214 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 1 in 263169 1 in 408321 <1 in 1,000,000 | 1 in 3802 1 in 3840 1 in 1026 1 in 1278 1 in 3750 | 1 in 2536 1 in 2560 1 in 684 1 in 852 1 in 2500 | 1 in 3802 1 in 3840 1 in 1026 1 in 1278 1 in 3750 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

TTPA | Ataxia with isolated vitamin E deficiency | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 607 1 in 319 N/A 1 in 2403 1 in 1293 | 1 in 3,637 1 in 1914 N/A 1 in 14418 1 in 7758 | <1 in 1,000,000 <1 in 1,000,000 N/A <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 N/A <1 in 1,000,000 <1 in 1,000,000 | 1 in 14548 1 in 7656 N/A 1 in 57672 1 in 31032 | 1 in 2428 1 in 1276 N/A 1 in 9612 1 in 5172 | 1 in 14548 1 in 7656 N/A 1 in 57672 1 in 31032 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

TYMP | Mitochondrial DNA depletion syndrome, type 1 (MNGIE type) | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish Sephardic Jewish | 1 in 425 1 in 287 1 in 2873 1 in 1834 1 in 647 1 in 828 1 in 158 | 1 in 1,014 1 in 686 1 in 6867 1 in 4384 1 in 1546 1 in 27600 1 in 5267 | <1 in 1,000,000 1 in 787528 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 4058 1 in 2744 1 in 27469 1 in 17535 1 in 6186 1 in 110400 1 in 21067 | 1 in 1700 1 in 1148 1 in 11492 1 in 7336 1 in 2588 1 in 3312 1 in 632 | 1 in 4058 1 in 2744 1 in 27469 1 in 17535 1 in 6186 1 in 110400 1 in 21067 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

TYR | Oculocutaneous albinism (OCA) type 1A; OCA type 1B | Autosomal recessive | General African/African American East Asian South Asian Latino | 1 in 101 1 in 100 N/A N/A 1 in 100 | 1 in 681 1 in 683 N/A N/A 1 in 683 | 1 in 273742 1 in 273333 N/A N/A 1 in 273333 | <1 in 1,000,000 <1 in 1,000,000 N/A N/A <1 in 1,000,000 | 1 in 2724 1 in 2733 N/A N/A 1 in 2733 | 1 in 402 1 in 400 N/A N/A 1 in 400 | 1 in 2724 1 in 2733 N/A N/A 1 in 2733 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

TYRP1 | Albinism, oculocutaneous, type 3 | Autosomal recessive | General African/African American East Asian South Asian Latino | <1 in 500 N/A N/A N/A N/A | <1 in 1,400 N/A N/A N/A N/A | <1 in 1,000,000 N/A N/A N/A N/A | <1 in 1,000,000 N/A N/A N/A N/A | 1 in 5598 N/A N/A N/A N/A | 1 in 2002 N/A N/A N/A N/A | 1 in 5598 N/A N/A N/A N/A | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

UBE3A | Angelman syndrome | Autosomal dominant | General African/African American East Asian South Asian Latino | 1 in 62 N/A N/A N/A N/A | N/A N/A N/A N/A N/A | N/A N/A N/A N/A N/A | N/A N/A N/A N/A N/A | N/A N/A N/A N/A N/A | 1 in 249 N/A N/A N/A N/A | N/A N/A N/A N/A N/A | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

UGT1A1 | Crigler-Najjar syndrome, type 1; Crigler-Najjar syndrome, type 2 | Autosomal recessive | General African/African American East Asian South Asian Latino | 1 in 500 N/A N/A N/A N/A | 1 in 5,496 N/A N/A N/A N/A | <1 in 1,000,000 N/A N/A N/A N/A | <1 in 1,000,000 N/A N/A N/A N/A | 1 in 21982 N/A N/A N/A N/A | 1 in 2002 N/A N/A N/A N/A | 1 in 21982 N/A N/A N/A N/A | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

UNC13D | Hemophagocytic lymphohistiocytosis, familial, type 3 | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 108 1 in 258 1 in 106 1 in 186 1 in 110 | 1 in 202 1 in 486 1 in 200 1 in 350 1 in 207 | 1 in 87442 1 in 501188 1 in 84600 1 in 260488 1 in 91106 | 1 in 163882 1 in 943412 1 in 159248 1 in 490329 1 in 171493 | 1 in 810 1 in 1943 1 in 798 1 in 1400 1 in 828 | 1 in 432 1 in 1032 1 in 424 1 in 744 1 in 440 | 1 in 810 1 in 1943 1 in 798 1 in 1400 1 in 828 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

UPF3B | Mental retardation, X-linked, syndromic, type 14 | X-linked | General African/African American East Asian South Asian Latino | 1 in 45,000 N/A N/A N/A N/A | 1 in 49,500 N/A N/A N/A N/A | 1 in 198000 N/A N/A N/A N/A | - - - - - | - - - - - | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 | - - - - - | - - - - - |

USH1C | Usher syndrome, type 1C; Deafness, autosomal recessive, type 18A | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 257 1 in 48 1 in 154 1 in 485 1 in 526 | 1 in 902 1 in 169 1 in 542 1 in 1707 1 in 1852 | 1 in 927379 1 in 32440 1 in 333921 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 1 in 114190 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 3608 1 in 676 1 in 2168 1 in 6829 1 in 7406 | 1 in 1028 1 in 192 1 in 616 1 in 1940 1 in 2104 | 1 in 3608 1 in 676 1 in 2168 1 in 6829 1 in 7406 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

USH1G | Usher syndrome, type 1G | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 4,124 1 in 1724 1 in 1983 1 in 1531 1 in 4696 | 1 in 9,242 1 in 3864 1 in 4445 1 in 3432 1 in 10526 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 36969 1 in 15457 1 in 17779 1 in 13726 1 in 42102 | 1 in 16496 1 in 6896 1 in 7932 1 in 6124 1 in 18784 | 1 in 36969 1 in 15457 1 in 17779 1 in 13726 1 in 42102 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

USH2A | Usher syndrome, type 2A | Autosomal recessive | General African/African American East Asian South Asian Latino Ashkenazi Jewish | 1 in 60 1 in 69 1 in 27 1 in 68 1 in 51 1 in 40 | 1 in 173 1 in 199 1 in 78 1 in 196 1 in 147 1 in 800 | 1 in 41714 1 in 55001 1 in 8422 1 in 53419 1 in 30048 1 in 128000 | 1 in 119171 1 in 158850 1 in 24323 1 in 154279 1 in 86782 <1 in 1,000,000 | 1 in 690 1 in 797 1 in 312 1 in 786 1 in 589 1 in 3200 | 1 in 242 1 in 276 1 in 108 1 in 272 1 in 204 1 in 160 | 1 in 690 1 in 797 1 in 312 1 in 786 1 in 589 1 in 3200 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

VPS13A | Choreoacanthocytosis | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish | 1 in 341 1 in 321 1 in 204 1 in 540 1 in 466 1 in 628 | 1 in 488 1 in 460 1 in 292 1 in 774 1 in 668 1 in 31400 | 1 in 666087 1 in 590768 1 in 238598 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 953878 1 in 846768 1 in 341991 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 1953 1 in 1840 1 in 1170 1 in 3096 1 in 2672 1 in 125600 | 1 in 1364 1 in 1284 1 in 816 1 in 2160 1 in 1864 1 in 2512 | 1 in 1953 1 in 1840 1 in 1170 1 in 3096 1 in 2672 1 in 125600 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

VPS13B | Cohen syndrome | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 224 1 in 500 1 in 255 1 in 313 1 in 500 | 1 in 610 1 in 1365 1 in 696 1 in 854 1 in 1365 | 1 in 546318 <1 in 1,000,000 1 in 710003 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 2439 1 in 5459 1 in 2784 1 in 3418 1 in 5459 | 1 in 896 1 in 2000 1 in 1020 1 in 1252 1 in 2000 | 1 in 2439 1 in 5459 1 in 2784 1 in 3418 1 in 5459 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

VPS45 | Neutropenia, severe congenital, type 5 | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 1,634 1 in 1120 1 in 1099 1 in 1703 1 in 3351 | N/A N/A N/A N/A N/A | N/A N/A N/A N/A N/A | N/A N/A N/A N/A N/A | N/A N/A N/A N/A N/A | 1 in 6536 1 in 4480 1 in 4396 1 in 6812 1 in 13404 | N/A N/A N/A N/A N/A | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

VPS53 | Pontocerebellar hypoplasia, type 2E | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 1,506 1 in 2317 1 in 943 1 in 1549 1 in 1577 | N/A N/A N/A N/A N/A | N/A N/A N/A N/A N/A | N/A N/A N/A N/A N/A | N/A N/A N/A N/A N/A | 1 in 6024 1 in 9268 1 in 3772 1 in 6196 1 in 6308 | N/A N/A N/A N/A N/A | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

VRK1 | Pontocerebellar hypoplasia, type 1A | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish | 1 in 2,583 1 in 324 1 in 943 1 in 7488 1 in 8120 1 in 277 | 1 in 3,377 1 in 424 1 in 1233 1 in 9792 1 in 10618 1 in 1868 | <1 in 1,000,000 1 in 549105 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 418598 | <1 in 1,000,000 1 in 718061 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 13510 1 in 1695 1 in 4933 1 in 39168 1 in 42474 1 in 7471 | 1 in 10332 1 in 1296 1 in 3772 1 in 29952 1 in 32480 1 in 224 | 1 in 13510 1 in 1695 1 in 4933 1 in 39168 1 in 42474 1 in 7471 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

VSX2 | Microphthalmia with coloboma 3; Isolated microphthalmia 2 | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish Sephardic Jewish | 1 in 1,337 1 in 1608 1 in 829 1 in 3960 1 in 2776 N/A 1 in 145 | 1 in 3,564 1 in 4288 1 in 2211 1 in 10560 1 in 7403 N/A 1 in 4833 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 N/A <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 N/A <1 in 1,000,000 | 1 in 14255 1 in 17152 1 in 8843 1 in 42240 1 in 29611 N/A 1 in 19333 | 1 in 5348 1 in 6432 1 in 3316 1 in 15840 1 in 11104 N/A 1 in 580 | 1 in 14255 1 in 17152 1 in 8843 1 in 42240 1 in 29611 N/A 1 in 19333 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

WAS | Wiskott-Aldrich syndrome; Thrombocytopenia, X-linked | X-linked | General African/African American East Asian South Asian Latino | 1 in 500,000 N/A N/A N/A N/A | <1 in 1,000,000 N/A N/A N/A N/A | <1 in 1,000,000 N/A N/A N/A N/A | - - - - - | - - - - - | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 | - - - - - | - - - - - |

WHRN | Usher syndrome, type 2D; Deafness, autosomal recessive, type 31 | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 93 1 in 5751 1 in 1526 1 in 940 1 in 2074 | 1 in 127 1 in 7842 1 in 2081 1 in 1282 1 in 2828 | 1 in 47150 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 64111 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 506 1 in 31369 1 in 8324 1 in 5127 1 in 11313 | 1 in 372 1 in 23004 1 in 6104 1 in 3760 1 in 8296 | 1 in 506 1 in 31369 1 in 8324 1 in 5127 1 in 11313 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

WNT10A | Odontoonychodermal dysplasia | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 216 1 in 766 1 in 594 1 in 952 1 in 869 | 1 in 324 1 in 1149 1 in 891 1 in 1428 1 in 1304 | 1 in 279504 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 418609 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 1294 1 in 4596 1 in 3564 1 in 5712 1 in 5214 | 1 in 864 1 in 3064 1 in 2376 1 in 3808 1 in 3476 | 1 in 1294 1 in 4596 1 in 3564 1 in 5712 1 in 5214 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

WRN | Werner syndrome | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 474 1 in 491 1 in 253 1 in 355 1 in 979 | 1 in 681 1 in 705 1 in 364 1 in 510 1 in 1407 | <1 in 1,000,000 <1 in 1,000,000 1 in 367868 1 in 724282 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 1 in 528546 <1 in 1,000,000 <1 in 1,000,000 | 1 in 2722 1 in 2822 1 in 1454 1 in 2040 1 in 5626 | 1 in 1896 1 in 1964 1 in 1012 1 in 1420 1 in 3916 | 1 in 2722 1 in 2822 1 in 1454 1 in 2040 1 in 5626 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

XPA | Xeroderma pigmentosum, group A | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 718 1 in 1417 1 in 100 1 in 280 1 in 200 | 1 in 4,877 1 in 9636 1 in 680 1 in 1904 1 in 1360 | <1 in 1,000,000 <1 in 1,000,000 1 in 272000 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 19506 1 in 38542 1 in 2720 1 in 7616 1 in 5440 | 1 in 2872 1 in 5668 1 in 400 1 in 1120 1 in 800 | 1 in 19506 1 in 38542 1 in 2720 1 in 7616 1 in 5440 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

XPC | Xeroderma pigmentosum, group C | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 440 1 in 123 1 in 2906 1 in 462 1 in 19 | 1 in 1,635 1 in 458 1 in 10817 1 in 1720 1 in 71 | <1 in 1,000,000 1 in 225254 <1 in 1,000,000 <1 in 1,000,000 1 in 5375 | <1 in 1,000,000 1 in 838445 <1 in 1,000,000 <1 in 1,000,000 1 in 20007 | 1 in 6540 1 in 1831 1 in 43267 1 in 6879 1 in 283 | 1 in 1760 1 in 492 1 in 11624 1 in 1848 1 in 76 | 1 in 6540 1 in 1831 1 in 43267 1 in 6879 1 in 283 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

ZDHHC9 | Mental retardation, X-linked syndromic, Raymond type | X-linked | General African/African American East Asian South Asian Latino | 1 in 45,000 N/A N/A N/A N/A | 1 in 60,000 N/A N/A N/A N/A | 1 in 239999 N/A N/A N/A N/A | - - - - - | - - - - - | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 | - - - - - | - - - - - |

ZFYVE26 | Spastic paraplegia, type 15, autosomal recessive | Autosomal recessive | General African/African American East Asian South Asian Latino | <1 in 500 N/A N/A N/A N/A | <1 in 1,600 N/A N/A N/A N/A | <1 in 1,000,000 N/A N/A N/A N/A | <1 in 1,000,000 N/A N/A N/A N/A | 1 in 6426 N/A N/A N/A N/A | 1 in 2000 N/A N/A N/A N/A | 1 in 6426 N/A N/A N/A N/A | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

ZNF711 | Mental retardation, X-linked, type 97 | X-linked | General African/African American East Asian South Asian Latino | 1 in 45,000 N/A N/A N/A N/A | 1 in 54,000 N/A N/A N/A N/A | 1 in 215999 N/A N/A N/A N/A | - - - - - | - - - - - | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 | - - - - - | - - - - - |

Gene | Condition | Inheritance | Ethnicity | Carrier Rate | Residual Risk | Patient - & Partner not tested | Patient - & Partner - | Patient - & Partner + | Patient + & Partner not tested | Patient + & Partner - | Patient + & Partner + |
---|---|---|---|---|---|---|---|---|---|---|---|

AAAS | Triple-A syndrome (achalasia-addisonianism-alacrimia) | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 436 1 in 549 1 in 1313 1 in 365 1 in 221 | 1 in 8,266 1 in 10431 1 in 24947 1 in 6935 1 in 4199 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 33064 1 in 41724 1 in 99788 1 in 27740 1 in 16796 | 1 in 1744 1 in 2196 1 in 5252 1 in 1460 1 in 884 | 1 in 33064 1 in 41724 1 in 99788 1 in 27740 1 in 16796 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

AARS1 | Epileptic encephalopathy, early infantile, type 29 | Autosomal recessive | General population | N/A | N/A | N/A | N/A | N/A | N/A | N/A | 1 in 4 |

AARS2 | Combined oxidative phosphorylation deficiency 8; Leukoencephalopathy, progressive, with ovarian failure | Autosomal recessive | General population | <1 in 500 | <1 in 1091 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 4363 | <1 in 2000 | <1 in 4363 | 1 in 4 |

AASS | Hyperlysinemia, type 1 and type 2 | Autosomal recessive | General population | N/A | N/A | N/A | N/A | N/A | N/A | N/A | 1 in 4 |

ABAT | GABA-transaminase deficiency | Autosomal recessive | General population | <1 in 500 | <1 in 917 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 3667 | <1 in 2000 | <1 in 3667 | 1 in 4 |

ABCA1 | Tangier disease | Autosomal recessive | General population | <1 in 500 | <1 in 1583 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 6331 | <1 in 2000 | <1 in 6331 | 1 in 4 |

ABCA12 | Ichthyosis, congenital, autosomal recessive, type 4A; ICAR, type 4B (harlequin) | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 194 1 in 271 1 in 223 1 in 89 1 in 112 | 1 in 715 1 in 1003 1 in 825 1 in 329 1 in 414 | 1 in 554918 <1 in 1,000,000 1 in 735989 1 in 117231 1 in 185651 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 433754 1 in 686909 | 1 in 2860 1 in 4011 1 in 3300 1 in 1317 1 in 1658 | 1 in 776 1 in 1084 1 in 892 1 in 356 1 in 448 | 1 in 2860 1 in 4011 1 in 3300 1 in 1317 1 in 1658 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

ABCA3 | Surfactant metabolism dysfunction, pulmonary, type 3 | Autosomal recessive | General population | N/A | N/A | N/A | N/A | N/A | N/A | N/A | 1 in 4 |

ABCA4 | Stargardt disease type 1; Cone-rod dystrophy type 3 | Autosomal recessive | General African/African American East Asian South Asian Latino | 1 in 62 N/A N/A N/A N/A | 1 in 119 N/A N/A N/A N/A | 1 in 29571 N/A N/A N/A N/A | 1 in 56179 N/A N/A N/A N/A | 1 in 474 N/A N/A N/A N/A | 1 in 250 N/A N/A N/A N/A | 1 in 474 N/A N/A N/A N/A | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

ABCB11 | Cholestasis, benign recurrent intrahepatic, type 2; Cholestasis, progressive familial intrahepatic, type 2 | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 276 1 in 295 1 in 153 1 in 654 1 in 390 | 1 in 614 1 in 658 1 in 341 1 in 1459 1 in 870 | 1 in 678366 1 in 776531 1 in 208880 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 1 in 465964 <1 in 1,000,000 <1 in 1,000,000 | 1 in 2458 1 in 2632 1 in 1365 1 in 5836 1 in 3480 | 1 in 1104 1 in 1180 1 in 612 1 in 2616 1 in 1560 | 1 in 2458 1 in 2632 1 in 1365 1 in 5836 1 in 3480 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

ABCB4 | Cholestasis, progressive familial intrahepatic, type 3 | Autosomal recessive | Caucasian/European population | 1 in 60 | 1 in 133 | 1 in 31828 | 1 in 70347 | 1 in 530 | 1 in 240 | 1 in 530 | 1 in 4 |

ABCB7 | X-linked sideroblastic anemia and ataxia (XLSA/A) | X-linked | General population | <1 in 500,000 | <1 in 1749999 | <1 in 1,000,000 | - | - | 1 in 4 | - | - |

ABCC2 | Dubin-Johnson syndrome | Autosomal recessive | General population | N/A | N/A | N/A | N/A | N/A | N/A | N/A | 1 in 4 |

ABCC6 | Pseudoxanthoma elasticum; Generalized arterial calcification of infancy, type 2 | Autosomal recessive | General population | 1 in 377 | 1 in 1005 | <1 in 1,000,000 | <1 in 1,000,000 | 1 in 4018 | 1 in 1507 | 1 in 4018 | 1 in 4 |

ABCC8 | Hyperinsulinemic hypoglycemia, type 1 (congenital hyperinsulinism); Permanent neonatal diabetes mellitus (PNDM) | Autosomal recessive* | Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish | 1 in 192 1 in 256 1 in 119 1 in 364 1 in 285 1 in 55 | 1 in 1,690 1 in 2264 1 in 1052 1 in 3219 1 in 2520 1 in 1760 | <1 in 1,000,000 <1 in 1,000,000 1 in 500852 <1 in 1,000,000 <1 in 1,000,000 1 in 371712 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 6759 1 in 9054 1 in 4209 1 in 12874 1 in 10080 1 in 7040 | 1 in 768 1 in 1024 1 in 476 1 in 1456 1 in 1140 1 in 211 | 1 in 6759 1 in 9054 1 in 4209 1 in 12874 1 in 10080 1 in 7040 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

ABCD1 | Adrenoleukodystrophy | X-linked | Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish | 1 in 14,000 N/A 1 in 20000 N/A N/A N/A | 1 in 28,579 N/A 1 in 40829 N/A N/A N/A | 1 in 114316 N/A 1 in 163315 N/A N/A N/A | - - - - - - | - - - - - - | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 | - - - - - - | - - - - - - |

ABCD4 | Methylmalonic aciduria and homocystinuria, cblJ type | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 496 1 in 534 1 in 328 1 in 313 1 in 859 | 1 in 49,501 1 in 53400 1 in 32800 1 in 31300 1 in 85900 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 198004 1 in 213600 1 in 131200 1 in 125200 1 in 343600 | 1 in 1984 1 in 2136 1 in 1312 1 in 1252 1 in 3436 | 1 in 198004 1 in 213600 1 in 131200 1 in 125200 1 in 343600 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

ABCG5 | Sitosterolemia | Autosomal recessive | General population | N/A | N/A | N/A | N/A | N/A | N/A | N/A | 1 in 4 |

ABCG8 | Sitosterolemia | Autosomal recessive | Caucasian/European population | 1 in 301 | 1 in 2542 | <1 in 1,000,000 | <1 in 1,000,000 | 1 in 10169 | 1 in 1202 | 1 in 10169 | 1 in 4 |

ABHD12 | PHARC syndrome (polyneuropathy, hearing loss, ataxia, retinitis pigmentosa and cataract) | Autosomal recessive | General population | <1 in 500 | <1 in 1214 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 4856 | <1 in 2000 | <1 in 4856 | 1 in 4 |

ABHD5 | Chanarin-Dorfman syndrome | Autosomal recessive | General population | <1 in 500 | <1 in 813 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 3251 | <1 in 2000 | <1 in 3251 | 1 in 4 |

ACAD8 | Isobutyryl-CoA dehydrogenase deficiency | Autosomal recessive | General African/African American East Asian South Asian Latino | N/A N/A N/A N/A N/A | N/A N/A N/A N/A N/A | N/A N/A N/A N/A N/A | N/A N/A N/A N/A N/A | N/A N/A N/A N/A N/A | N/A N/A N/A N/A N/A | N/A N/A N/A N/A N/A | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

ACAD9 | Acyl-CoA dehydrogenase 9 deficiency (mitochondrial complex I deficiency, nuclear, type 20) | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 309 1 in 784 1 in 2252 1 in 810 1 in 741 | 1 in 576 1 in 1463 1 in 4204 1 in 1512 1 in 1383 | 1 in 711854 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 2304 1 in 5854 1 in 16815 1 in 6048 1 in 5533 | 1 in 1236 1 in 3136 1 in 9008 1 in 3240 1 in 2964 | 1 in 2304 1 in 5854 1 in 16815 1 in 6048 1 in 5533 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

ACADM | Medium-chain acyl-CoA dehydrogenase deficiency | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish | 1 in 50 1 in 172 1 in 255 1 in 142 1 in 92 1 in 133 | <1 in 488 1 in 1720 1 in 2550 1 in 1420 1 in 920 1 in 13300 | 1 in 96920 <1 in 1,000,000 <1 in 1,000,000 1 in 806560 1 in 338560 <1 in 1,000,000 | 1 in 951643 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 1951 1 in 6880 1 in 10200 1 in 5680 1 in 3680 1 in 53200 | 1 in 199 1 in 688 1 in 1020 1 in 568 1 in 368 1 in 532 | 1 in 1951 1 in 6880 1 in 10200 1 in 5680 1 in 3680 1 in 53200 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

ACADS | Short-chain acyl-CoA dehydrogenase deficiency | Autosomal recessive | General African/African American East Asian South Asian Latino | 1 in 102 1 in 52 N/A 1 in 51 1 in 100 | 1 in 1,015 1 in 520 N/A 1 in 510 1 in 1000 | 1 in 415474 1 in 108160 N/A 1 in 104040 1 in 400000 | <1 in 1,000,000 <1 in 1,000,000 N/A <1 in 1,000,000 <1 in 1,000,000 | 1 in 4059 1 in 2080 N/A 1 in 2040 1 in 4000 | 1 in 409 1 in 208 N/A 1 in 204 1 in 400 | 1 in 4059 1 in 2080 N/A 1 in 2040 1 in 4000 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

ACADSB | Short/branched-chain acyl-CoA dehydrogenase deficiency | Autosomal recessive | General African/African American East Asian South Asian Latino | 1 in 500 N/A N/A N/A N/A | 1 in 1,125 N/A N/A N/A N/A | <1 in 1,000,000 N/A N/A N/A N/A | <1 in 1,000,000 N/A N/A N/A N/A | 1 in 4500 N/A N/A N/A N/A | 1 in 2002 N/A N/A N/A N/A | 1 in 4500 N/A N/A N/A N/A | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

ACADVL | Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency | Autosomal recessive | General African/African American East Asian South Asian Latino | 1 in 112 1 in 146 1 in 201 1 in 73 1 in 267 | 1 in 698 1 in 913 1 in 1256 1 in 456 1 in 1669 | 1 in 313792 1 in 532900 <1 in 1,000,000 1 in 133225 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 832656 <1 in 1,000,000 | 1 in 2790 1 in 3650 1 in 5025 1 in 1825 1 in 6675 | 1 in 450 1 in 584 1 in 804 1 in 292 1 in 1068 | 1 in 2790 1 in 3650 1 in 5025 1 in 1825 1 in 6675 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

ACAT1 | Alpha-methylacetoacetic aciduria (3-ketothiolase deficiency) | Autosomal recessive | General African/African American East Asian South Asian Latino | 1 in 500 1 in 1197 1 in 293 1 in 1378 1 in 173 | 1 in 769 1 in 1842 1 in 451 1 in 2120 1 in 266 | <1 in 1,000,000 <1 in 1,000,000 1 in 528302 <1 in 1,000,000 1 in 184178 | <1 in 1,000,000 <1 in 1,000,000 1 in 812772 <1 in 1,000,000 1 in 283351 | 1 in 3078 1 in 7366 1 in 1803 1 in 8480 1 in 1065 | 1 in 2002 1 in 4788 1 in 1172 1 in 5512 1 in 692 | 1 in 3078 1 in 7366 1 in 1803 1 in 8480 1 in 1065 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

ACE | Renal tubular dysgenesis | Autosomal recessive | General population | N/A | N/A | N/A | N/A | N/A | N/A | N/A | 1 in 4 |

ACO2 | Infantile cerebellar-retinal degeneration | Autosomal recessive | General population | <1 in 500 | <1 in 889 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 3556 | <1 in 2000 | <1 in 3556 | 1 in 4 |

ACOX1 | Peroxisomal acyl-CoA oxidase deficiency | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 2,394 1 in 1071 N/A 1 in 3848 1 in 3358 | 1 in 7,180 1 in 3213 N/A 1 in 11544 1 in 10074 | <1 in 1,000,000 <1 in 1,000,000 N/A <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 N/A <1 in 1,000,000 <1 in 1,000,000 | 1 in 28720 1 in 12852 N/A 1 in 46176 1 in 40296 | 1 in 9576 1 in 4284 N/A 1 in 15392 1 in 13432 | 1 in 28720 1 in 12852 N/A 1 in 46176 1 in 40296 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

ACOX2 | Bile acid synthesis defect, congenital, type 6 | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |

ACP4 | Amelogenesis imperfecta, type 1J | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |

ACP5 | Spondyloenchondrodysplasia with immune dysregulation | Autosomal recessive | General population | <1 in 500 | <1 in 1375 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 5499 | <1 in 2000 | <1 in 5499 | 1 in 4 |

ACSF3 | Combined malonic and methylmalonic aciduria | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 67 1 in 126 1 in 274 1 in 616 1 in 193 | 1 in 90 1 in 170 1 in 369 1 in 830 1 in 260 | 1 in 24108 1 in 85592 1 in 404758 <1 in 1,000,000 1 in 200821 | 1 in 32369 1 in 115364 1 in 545543 <1 in 1,000,000 1 in 270671 | 1 in 360 1 in 679 1 in 1477 1 in 3321 1 in 1041 | 1 in 268 1 in 504 1 in 1096 1 in 2464 1 in 772 | 1 in 360 1 in 679 1 in 1477 1 in 3321 1 in 1041 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

ACSL4 | Mental retardation, X-linked, type 63 | X-linked | General population | 1 in 45000 | 1 in 179997 | 1 in 719988 | - | - | 1 in 4 | - | - |

ACTA1 | Nemaline myopathy 3; Congenital fiber-type disproportion myopathy 1 | Autosomal recessive* | General population | 1 in 112 | 1 in 142 | 1 in 63784 | 1 in 80641 | 1 in 568 | 1 in 449 | 1 in 568 | 1 in 4 |

ACY1 | Aminoacylase 1 deficiency | Autosomal recessive | General population | <1 in 500 | <1 in 1500 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 5998 | <1 in 2000 | <1 in 5998 | 1 in 4 |

ADA | Severe combined immunodeficiency due to adenosine deaminase deficiency (ADA) | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 390 1 in 91 1 in 1275 1 in 282 1 in 250 | 1 in 2,335 1 in 546 1 in 7650 1 in 1692 1 in 1500 | <1 in 1,000,000 1 in 198744 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 9340 1 in 2184 1 in 30600 1 in 6768 1 in 6000 | 1 in 1560 1 in 364 1 in 5100 1 in 1128 1 in 1000 | 1 in 9340 1 in 2184 1 in 30600 1 in 6768 1 in 6000 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

ADA2 | Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |

ADAM9 | Cone-rod dystrophy 9 | Autosomal recessive | General population | 1 in 80 | 1 in 109 | 1 in 34806 | 1 in 47694 | 1 in 437 | 1 in 319 | 1 in 437 | 1 in 4 |

ADAMTS10 | Weill-Marchesani syndrome, type 1, recessive | Autosomal recessive | General population | 1 in 80 | 1 in 185 | 1 in 58842 | 1 in 136313 | 1 in 738 | 1 in 319 | 1 in 738 | 1 in 4 |

ADAMTS13 | Thrombotic thrombocytopenic purpura, familial (Schulman-Upshaw syndrome) | Autosomal recessive | General population | 1 in 334 | 1 in 588 | 1 in 785913 | <1 in 1,000,000 | 1 in 2354 | 1 in 1336 | 1 in 2354 | 1 in 4 |

ADAMTS17 | Weill-Marchesani syndrome, type 4, recessive | Autosomal recessive | General population | 1 in 80 | 1 in 7870 | <1 in 1,000,000 | <1 in 1,000,000 | 1 in 31479 | 1 in 319 | 1 in 31479 | 1 in 4 |

ADAMTS18 | Microcornea, myopic chorioretinal atrophy, and telecanthus | Autosomal recessive | General population | 1 in 112 | 1 in 168 | 1 in 75451 | 1 in 112840 | 1 in 672 | 1 in 449 | 1 in 672 | 1 in 4 |

ADAMTS2 | Ehlers-Danlos syndrome, dermatosparaxis type | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish | 1 in 2,432 1 in 2434 1 in 631 1 in 3796 1 in 4193 1 in 217 | 1 in 4,053 1 in 4057 1 in 1052 1 in 6327 1 in 6988 1 in 7107 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 16211 1 in 16227 1 in 4207 1 in 25307 1 in 27953 1 in 28430 | 1 in 9728 1 in 9736 1 in 2524 1 in 15184 1 in 16772 1 in 853 | 1 in 16211 1 in 16227 1 in 4207 1 in 25307 1 in 27953 1 in 28430 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

ADAMTSL2 | Geleophysic dysplasia type 1 | Autosomal recessive | General population | <1 in 500 | <1 in 1000 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 4000 | <1 in 2000 | <1 in 4000 | 1 in 4 |

ADAMTSL4 | Ectopia lentis et pupillae; Ectopia lentis, isolated, type 2 | Autosomal recessive | General population | <1 in 500 | <1 in 2748 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 10993 | <1 in 2000 | <1 in 10993 | 1 in 4 |

ADAR | Aicardi-Goutieres syndrome, type 6 | Autosomal recessive | General population | <1 in 500 | <1 in 857 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 3429 | <1 in 2000 | <1 in 3429 | 1 in 4 |

ADAT3 | Mental retardation, autosomal recessive 36 | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |

ADD3 | Cerebral palsy, spastic quadriplegic, 3 | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |

ADGRG1 | Polymicrogyria, bilateral frontoparietal | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 2,033 1 in 917 1 in 1433 1 in 641 1 in 1525 | 1 in 3,557 1 in 1605 1 in 2508 1 in 1122 1 in 2669 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 14228 1 in 6419 1 in 10031 1 in 4487 1 in 10675 | 1 in 8132 1 in 3668 1 in 5732 1 in 2564 1 in 6100 | 1 in 14228 1 in 6419 1 in 10031 1 in 4487 1 in 10675 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

ADGRG2 | Vas deferens, congenital bilateral aplasia of, X-linked | X-linked | General population | ≤1 in 500 | Reduced | Reduced | - | - | 1 in 4 | - | - |

ADGRG6 | Lethal congenital contracture syndrome 9 | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |

ADGRV1 | Usher syndrome, type 2C | Autosomal recessive, digenic inheritance (PDZD7 gene) | General African/African American East Asian South Asian Latino | 1 in 80 1 in 72 1 in 134 1 in 30 1 in 64 | 1 in 147 1 in 134 1 in 249 1 in 56 1 in 119 | 1 in 46798 1 in 38510 1 in 133387 1 in 6686 1 in 30427 | 1 in 86407 1 in 71518 1 in 247720 1 in 12416 1 in 56508 | 1 in 588 1 in 535 1 in 995 1 in 223 1 in 475 | 1 in 318 1 in 288 1 in 536 1 in 120 1 in 256 | 1 in 588 1 in 535 1 in 995 1 in 223 1 in 475 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

ADK | Hypermethioninemia due to adenosine kinase deficiency | Autosomal recessive | General African/African American East Asian South Asian Latino | 1 in 500 N/A N/A N/A N/A | 1 in 1,498 N/A N/A N/A N/A | <1 in 1,000,000 N/A N/A N/A N/A | <1 in 1,000,000 N/A N/A N/A N/A | 1 in 5992 N/A N/A N/A N/A | 1 in 2000 N/A N/A N/A N/A | 1 in 5992 N/A N/A N/A N/A | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

ADSL | Adenylosuccinase deficiency | Autosomal recessive | General population | <1 in 500 | <1 in 1033 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 4133 | <1 in 2000 | <1 in 4133 | 1 in 4 |

ADSS1 | Myopathy, distal, 5 | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |

AFF2 | Mental retardation, X-linked, FRAXE type | X-linked | General population | 1 in 62501 | 1 in 125001 | 1 in 500004 | - | - | 1 in 4 | - | - |

AFG3L2 | Spastic ataxia, type 5, autosomal recessive | Autosomal recessive | General population | <1 in 500 | <1 in 760 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 3041 | <1 in 2000 | <1 in 3041 | 1 in 4 |

AFP | Alpha-fetoprotein deficiency | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |

AGA | Aspartylglucosaminuria (glycosylasparaginase deficiency) | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 975 1 in 1650 1 in 1724 1 in 2198 1 in 1526 | 1 in 3,442 1 in 5830 1 in 6091 1 in 7766 1 in 5392 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 13770 1 in 23320 1 in 24366 1 in 31065 1 in 21567 | 1 in 3900 1 in 6600 1 in 6896 1 in 8792 1 in 6104 | 1 in 13770 1 in 23320 1 in 24366 1 in 31065 1 in 21567 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

AGBL5 | Retinitis pigmentosa 75 | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |

AGK | Cataract 38, autosomal recessive; Sengers syndrome | Autosomal recessive | General population | <1 in 500 | <1 in 1437 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 5748 | <1 in 2000 | <1 in 5748 | 1 in 4 |

AGL | Glycogen storage disease, type 3 | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish Sephardic Jewish | 1 in 259 1 in 191 1 in 549 1 in 510 1 in 470 <1 in 500 1 in 34 | 1 in 1,083 1 in 801 1 in 2302 1 in 2139 1 in 1971 1 in 167167 1 in 1133 | <1 in 1,000,000 1 in 611939 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 154133 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 4332 1 in 3204 1 in 9209 1 in 8555 1 in 7884 1 in 668667 1 in 4533 | 1 in 1036 1 in 764 1 in 2196 1 in 2040 1 in 1880 1 in 20060 1 in 136 | 1 in 4332 1 in 3204 1 in 9209 1 in 8555 1 in 7884 1 in 668667 1 in 4533 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

AGPAT2 | Congenital generalized lipodystrophy (Berardinelli-Seip syndrome) | Autosomal recessive | Caucasian/European population | 1 in 2032 | 1 in 8802 | <1 in 1,000,000 | <1 in 1,000,000 | 1 in 35208 | 1 in 8128 | 1 in 35208 | 1 in 4 |

AGPS | Rhizomelic chondrodysplasia punctata, type 3 | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 18,591 1 in 151 1 in 165 1 in 592 1 in 260 | <1 in 1,000,000 1 in 15100 1 in 16500 1 in 59200 1 in 26000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 7436004 1 in 60400 1 in 66000 1 in 236800 1 in 104000 | 1 in 74364 1 in 604 1 in 660 1 in 2368 1 in 1040 | 1 in 7436004 1 in 60400 1 in 66000 1 in 236800 1 in 104000 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

AGRN | Myasthenic syndrome, congenital, type 8 | Autosomal recessive | General population | <1 in 500 | <1 in 929 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 3715 | <1 in 2000 | <1 in 3715 | 1 in 4 |

AGT | Renal tubular dysgenesis | Autosomal recessive | General population | N/A | N/A | N/A | N/A | N/A | N/A | N/A | 1 in 4 |

AGTR1 | Renal tubular dysgenesis | Autosomal recessive | General population | N/A | N/A | N/A | N/A | N/A | N/A | N/A | 1 in 4 |

AGXT | Hyperoxaluria, primary, type 1 | Autosomal recessive | General African/African American East Asian South Asian Latino | 1 in 174 1 in 326 1 in 134 1 in 247 1 in 416 | >1 in 5,758 1 in 10867 1 in 4467 1 in 8233 1 in 13867 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 23032 1 in 43467 1 in 17867 1 in 32933 1 in 55467 | 1 in 695 1 in 1304 1 in 536 1 in 988 1 in 1664 | 1 in 23032 1 in 43467 1 in 17867 1 in 32933 1 in 55467 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

AHCY | Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase | Autosomal recessive | General African/African American East Asian South Asian Latino | 1 in 708 N/A N/A N/A N/A | 1 in 2,122 N/A N/A N/A N/A | <1 in 1,000,000 N/A N/A N/A N/A | <1 in 1,000,000 N/A N/A N/A N/A | 1 in 8488 N/A N/A N/A N/A | 1 in 2832 N/A N/A N/A N/A | 1 in 8488 N/A N/A N/A N/A | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

AHI1 | Joubert syndrome, type 3 | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 334 1 in 151 1 in 255 1 in 636 1 in 172 | 1 in 706 1 in 320 1 in 540 1 in 1347 1 in 364 | 1 in 943452 1 in 193138 1 in 550800 <1 in 1,000,000 1 in 250594 | <1 in 1,000,000 1 in 408998 <1 in 1,000,000 <1 in 1,000,000 1 in 530669 | 1 in 2825 1 in 1279 1 in 2160 1 in 5387 1 in 1457 | 1 in 1336 1 in 604 1 in 1020 1 in 2544 1 in 688 | 1 in 2825 1 in 1279 1 in 2160 1 in 5387 1 in 1457 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

AICDA | Immunodeficiency with hyper-IgM, type 2 | Autosomal recessive | General population | ≤1 in 500 | <1 in 875 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 3501 | <1 in 2000 | <1 in 3501 | 1 in 4 |

AIFM1 | Cowchock syndrome; Deafness, X-linked, type 5 | X-linked | General population | <1 in 500,000 | <1 in 695652 | <1 in 1,000,000 | - | - | 1 in 4 | - | - |

AIMP1 | Leukodystrophy, hypomyelinating, type 3 | Autosomal recessive | General population | N/A | N/A | N/A | N/A | N/A | N/A | N/A | 1 in 4 |

AIMP2 | Leukodystrophy, hypomyelinating, 17 | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |

AIPL1 | Leber congenital amaurosis, type 4 | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 160 1 in 101 1 in 1149 1 in 31 1 in 524 | 1 in 189 1 in 119 1 in 1358 1 in 37 1 in 619 | 1 in 120902 1 in 48223 <1 in 1,000,000 1 in 4543 <1 in 1,000,000 | 1 in 142747 1 in 56991 <1 in 1,000,000 1 in 5369 <1 in 1,000,000 | 1 in 756 1 in 477 1 in 5432 1 in 147 1 in 2477 | 1 in 640 1 in 404 1 in 4596 1 in 124 1 in 2096 | 1 in 756 1 in 477 1 in 5432 1 in 147 1 in 2477 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

AIRE | Autoimmune polyendocrinopathy syndrome, type 1 | Autosomal recessive* | Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish Sephardic Jewish | 1 in 209 1 in 437 1 in 313 1 in 979 1 in 422 1 in 500 1 in 27 | 1 in 1,665 1 in 3496 1 in 2504 1 in 7832 1 in 3376 1 in 1667 1 in 2700 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 291600 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 6660 1 in 13984 1 in 10016 1 in 31328 1 in 13504 1 in 6667 1 in 10800 | 1 in 836 1 in 1748 1 in 1252 1 in 3916 1 in 1688 1 in 2000 1 in 108 | 1 in 6660 1 in 13984 1 in 10016 1 in 31328 1 in 13504 1 in 6667 1 in 10800 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

AK1 | Hemolytic anemia due to adenylate kinase deficiency | Autosomal recessive | General population | <1 in 500 | <1 in 1749 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 6997 | <1 in 2000 | <1 in 6997 | 1 in 4 |

AK2 | Reticular dysgenesis | Autosomal recessive | Caucasian/European population | 1 in 232 | 1 in 648 | 1 in 601158 | <1 in 1,000,000 | 1 in 2591 | 1 in 928 | 1 in 2591 | 1 in 4 |

AKR1C2 | 46,XY disorder of sex development due to testicular 17,20-desmolase deficiency | Autosomal recessive | General population | <1 in 500 | <1 in 625 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 2502 | <1 in 2000 | <1 in 2502 | 1 in 4 |

AKR1D1 | Bile acid synthesis defect, congenital, type 2 | Autosomal recessive | General population | N/A | N/A | N/A | N/A | N/A | N/A | N/A | 1 in 4 |

ALAD | Porphyria, acute hepatic | Autosomal recessive | General population | <1 in 500 | <1 in 49951 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 199804 | <1 in 2000 | <1 in 199804 | 1 in 4 |

ALAS2 | X-linked sideroblastic anemia, type 1 (XLSA or SIDBA1) | X-linked | General population | <1 in 500,000 | <1 in 1928571 | <1 in 1,000,000 | - | - | 1 in 4 | - | - |

ALB | Analbuminemia | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |

ALDH18A1 | Spastic paraplegia, type 9B, autosomal recessive; De Barsy syndrome | Autosomal recessive | General population | <1 in 500 | <1 in 1038 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 4154 | <1 in 2000 | <1 in 4154 | 1 in 4 |

ALDH1A3 | Microphthalmia, isolated 8 | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |

ALDH3A2 | Sjogren-Larsson syndrome | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 718 1 in 825 1 in 816 1 in 1152 1 in 672 | 1 in 4,231 1 in 4868 1 in 4814 1 in 6797 1 in 3965 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 16925 1 in 19470 1 in 19258 1 in 27187 1 in 15859 | 1 in 2872 1 in 3300 1 in 3264 1 in 4608 1 in 2688 | 1 in 16925 1 in 19470 1 in 19258 1 in 27187 1 in 15859 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

ALDH4A1 | Hyperprolinemia, type 2 | Autosomal recessive | General African/African American East Asian South Asian Latino | 1 in 500 N/A N/A N/A N/A | 1 in 49,951 N/A N/A N/A N/A | <1 in 1,000,000 N/A N/A N/A N/A | <1 in 1,000,000 N/A N/A N/A N/A | 1 in 199804 N/A N/A N/A N/A | 1 in 2002 N/A N/A N/A N/A | 1 in 199804 N/A N/A N/A N/A | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

ALDH5A1 | Succinic semialdehyde dehydrogenase deficiency | Autosomal recessive | General population | N/A | N/A | N/A | N/A | N/A | N/A | N/A | 1 in 4 |

ALDH6A1 | Methylmalonate semialdehyde dehydrogenase deficiency | Autosomal recessive | General population | <1 in 500 | <1 in 1167 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 4666 | <1 in 2000 | <1 in 4666 | 1 in 4 |

ALDH7A1 | Epilepsy, pyridoxine-dependent | Autosomal recessive | Caucasian/European population | 1 in 88 | 1 in 184 | 1 in 64662 | 1 in 134983 | 1 in 735 | 1 in 352 | 1 in 735 | 1 in 4 |

ALDOA | Glycogen storage disease type 12 | Autosomal recessive | General population | N/A | N/A | N/A | N/A | N/A | N/A | N/A | 1 in 4 |

ALDOB | Fructose intolerance, hereditary | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 67 1 in 250 1 in 705 1 in 394 1 in 235 | 1 in 298 1 in 1127 1 in 3177 1 in 1776 1 in 1059 | 1 in 79989 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 995606 | 1 in 356325 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 1194 1 in 4507 1 in 12710 1 in 7103 1 in 4237 | 1 in 268 1 in 1000 1 in 2820 1 in 1576 1 in 940 | 1 in 1194 1 in 4507 1 in 12710 1 in 7103 1 in 4237 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

ALG1 | Congenital disorder of glycosylation, type 1K | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 87 1 in 65 1 in 121 1 in 57 1 in 90 | 1 in 130 1 in 98 1 in 182 1 in 86 1 in 135 | 1 in 45240 1 in 25350 1 in 87846 1 in 19494 1 in 48600 | 1 in 67600 1 in 38025 1 in 131769 1 in 29241 1 in 72900 | 1 in 520 1 in 390 1 in 726 1 in 342 1 in 540 | 1 in 348 1 in 260 1 in 484 1 in 228 1 in 360 | 1 in 520 1 in 390 1 in 726 1 in 342 1 in 540 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

ALG11 | Congenital disorder of glycosylation, type 1P | Autosomal recessive | General population | <1 in 500 | <1 in 786 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 3144 | <1 in 2000 | <1 in 3144 | 1 in 4 |

ALG12 | Congenital disorder of glycosylation, type 1G | Autosomal recessive | General population | <1 in 500 | <1 in 857 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 3429 | <1 in 2000 | <1 in 3429 | 1 in 4 |

ALG13 | Developmental and epileptic encephalopathy, type 36 | X-linked | General population | <1 in 500,000 | <1 in 625000 | <1 in 1,000,000 | - | - | 1 in 4 | - | - |

ALG2 | Myasthenic syndrome, congenital, type 14, with tubular aggregates | Autosomal recessive | General population | <1 in 500 | <1 in 834 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 3334 | <1 in 2000 | <1 in 3334 | 1 in 4 |

ALG3 | Congenital disorder of glycosylation, type 1D | Autosomal recessive | General population | <1 in 500 | Reduced | Reduced | Reduced | Reduced | <1 in 2000 | Reduced | 1 in 4 |

ALG6 | Congenital disorder of glycosylation, type 1C | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 301 1 in 432 1 in 529 1 in 809 1 in 1405 | 1 in 421 1 in 605 1 in 741 1 in 1133 1 in 1967 | 1 in 506884 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 708964 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 1684 1 in 2419 1 in 2962 1 in 4530 1 in 7868 | 1 in 1204 1 in 1728 1 in 2116 1 in 3236 1 in 5620 | 1 in 1684 1 in 2419 1 in 2962 1 in 4530 1 in 7868 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

ALG8 | Congenital disorder of glycosylation, type 1H | Autosomal recessive | General population | <1 in 500 | <1 in 778 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 3112 | <1 in 2000 | <1 in 3112 | 1 in 4 |

ALG9 | Congenital disorder of glycosylation, type 1L; Gillessen-Kaesbach-Nishimura syndrome | Autosomal recessive | General population | <1 in 500 | <1 in 667 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 2668 | <1 in 2000 | <1 in 2668 | 1 in 4 |

ALMS1 | Alström syndrome | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 168 1 in 202 1 in 107 1 in 256 1 in 352 | 1 in 488 1 in 589 1 in 312 1 in 747 1 in 1027 | 1 in 327992 1 in 476047 1 in 133572 1 in 764587 <1 in 1,000,000 | 1 in 952901 <1 in 1,000,000 1 in 389584 <1 in 1,000,000 <1 in 1,000,000 | 1 in 1952 1 in 2357 1 in 1248 1 in 2987 1 in 4107 | 1 in 672 1 in 808 1 in 428 1 in 1024 1 in 1408 | 1 in 1952 1 in 2357 1 in 1248 1 in 2987 1 in 4107 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

ALOX12B | Ichthyosis, congenital, autosomal recessive, type 2 | Autosomal recessive | Caucasian/European population | 1 in 475 | 1 in 859 | <1 in 1,000,000 | <1 in 1,000,000 | 1 in 3435 | 1 in 1900 | 1 in 3435 | 1 in 4 |

ALOXE3 | Ichthyosis, congenital, autosomal recessive, type 3 | Autosomal recessive | Caucasian/European population | 1 in 184 | 1 in 387 | 1 in 285077 | 1 in 600108 | 1 in 1549 | 1 in 736 | 1 in 1549 | 1 in 4 |

ALPK3 | Cardiomyopathy, familial hypertrophic 27 | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |

ALPL | Hypophosphatasia, infantile/childhood | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 274 1 in 588 1 in 131 1 in 810 1 in 447 | 1 in 1,348 1 in 2901 1 in 646 1 in 3996 1 in 2205 | <1 in 1,000,000 <1 in 1,000,000 1 in 338644 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 5391 1 in 11603 1 in 2585 1 in 15984 1 in 8821 | 1 in 1096 1 in 2352 1 in 524 1 in 3240 1 in 1788 | 1 in 5391 1 in 11603 1 in 2585 1 in 15984 1 in 8821 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

ALS2 | Amyotrophic lateral sclerosis, type 2, juvenile; Primary lateral sclerosis, juvenile; Spastic paralysis, infantile onset ascending | Autosomal recessive | General population | <1 in 500 | <1 in 1538 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 6152 | <1 in 2000 | <1 in 6152 | 1 in 4 |

ALX1 | Frontonasal dysplasia, type 3 | Autosomal recessive | General population | <1 in 500 | <1 in 1000 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 4000 | <1 in 2000 | <1 in 4000 | 1 in 4 |

ALX3 | Frontonasal dysplasia, type 1 | Autosomal recessive | General population | <1 in 500 | <1 in 1000 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 4000 | <1 in 2000 | <1 in 4000 | 1 in 4 |

ALX4 | Frontonasal dysplasia, type 2 | Autosomal recessive | General population | <1 in 500 | <1 in 1500 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 5998 | <1 in 2000 | <1 in 5998 | 1 in 4 |

AMACR | Bile acid synthesis defect, congenital, type 4; Alpha-methylacyl-CoA racemase deficiency | Autosomal recessive | General population | <1 in 500 | <1 in 49951 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 199804 | <1 in 2000 | <1 in 199804 | 1 in 4 |

AMBN | Amelogenesis imperfecta, type IF | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |

AMELX | Amelogenesis imperfecta, type 1E (hypomaturation type) | X-linked | General population | ≤1 in 500 | <1 in 916667 | <1 in 1,000,000 | - | - | 1 in 4 | - | - |

AMER1 | Osteopathia striata with cranial sclerosis | X-linked | General population | <1 in 500,000 | <1 in 785715 | <1 in 1,000,000 | - | - | 1 in 4 | - | - |

AMH | Persistent Mullerian duct syndrome, type 1 | Autosomal recessive | General population | N/A | N/A | N/A | N/A | N/A | N/A | N/A | 1 in 4 |

AMHR2 | Persistent Mullerian duct syndrome, type II | Autosomal recessive | General population | N/A | N/A | N/A | N/A | N/A | N/A | N/A | 1 in 4 |

AMMECR1 | Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis | X-linked | General population | ≤1 in 500 | Reduced | Reduced | - | - | 1 in 4 | - | - |

AMN | Megaloblastic anemia 1 (Imerslund-Grasbeck syndrome) | Autosomal recessive | General population | ≤1 in 500 | <1 in 906 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 3625 | <1 in 2000 | <1 in 3625 | 1 in 4 |

AMPD1 | Myopathy due to myoadenylate deaminase deficiency | Autosomal recessive | Caucasian/European population | 1 in 67 | 1 in 6568 | <1 in 1,000,000 | <1 in 1,000,000 | 1 in 26271 | 1 in 267 | 1 in 26271 | 1 in 4 |

AMPD2 | Pontocerebellar hypoplasia, type 9 | Autosomal recessive | Caucasian/European population | 1 in 488 | Reduced | Reduced | Reduced | Reduced | 1 in 1952 | Reduced | 1 in 4 |

AMT | Glycine encephalopathy | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 779 1 in 801 1 in 1437 1 in 905 1 in 390 | 1 in 3,891 1 in 4005 1 in 7185 1 in 4525 1 in 1950 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 15564 1 in 16020 1 in 28740 1 in 18100 1 in 7800 | 1 in 3116 1 in 3204 1 in 5748 1 in 3620 1 in 1560 | 1 in 15564 1 in 16020 1 in 28740 1 in 18100 1 in 7800 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

ANGPTL3 | Hypobetalipoproteinemia, familial, type 2 | Autosomal recessive | General population | ≤1 in 500 | <1 in 700 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 2801 | <1 in 2000 | <1 in 2801 | 1 in 4 |

ANKS6 | Nephronophthisis 16 | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |

ANO10 | Spinocerebellar ataxia, autosomal recessive, type 10 | Autosomal recessive | General population | <1 in 500 | <1 in 1285 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 5142 | <1 in 2000 | <1 in 5142 | 1 in 4 |

ANO5 | Limb-girdle muscular dystrophy, type 12 (LGMD R12) | Autosomal recessive | General population | <1 in 500 | <1 in 1234 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 4937 | <1 in 2000 | <1 in 4937 | 1 in 4 |

ANO6 | Scott syndrome | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |

ANOS1 | Hypogonadotropic hypogonadism, type 1, with or without anosmia (Kallmann syndrome 1) | X-linked | General population | 1 in 10001 | 1 in 16501 | 1 in 66003 | - | - | 1 in 4 | - | - |

ANTXR1 | GAPO syndrome | Autosomal recessive | General population | <1 in 500 | <1 in 875 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 3501 | <1 in 2000 | <1 in 3501 | 1 in 4 |

ANTXR2 | Hyaline fibromatosis syndrome | Autosomal recessive | Caucasian/European population | 1 in 315 | 1 in 594 | 1 in 748580 | <1 in 1,000,000 | 1 in 2376 | 1 in 1260 | 1 in 2376 | 1 in 4 |

AP1S1 | MEDNIK syndrome | Autosomal recessive | General population | <1 in 500 | <1 in 834 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 3334 | <1 in 2000 | <1 in 3334 | 1 in 4 |

AP1S2 | Mental retardation, X-linked, syndromic, type 5 (Pettigrew syndrome) | X-linked | General African/African American East Asian South Asian Latino | 1 in 500,000 N/A N/A N/A N/A | 1 in 1,000,000 N/A N/A N/A N/A | <1 in 1,000,000 N/A N/A N/A N/A | - - - - - | - - - - - | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 | - - - - - | - - - - - |

AP3B1 | Hermansky-Pudlak syndrome, type 2 | Autosomal recessive | Caucasian/European population | 1 in 3747 | 1 in 12488 | <1 in 1,000,000 | <1 in 1,000,000 | 1 in 49951 | 1 in 14988 | 1 in 49951 | 1 in 4 |

AP3B2 | Epileptic encephalopathy, early infantile, type 48 | Autosomal recessive | General population | N/A | N/A | N/A | N/A | N/A | N/A | N/A | 1 in 4 |

AP3D1 | ?Hermansky-Pudlak syndrome 10 | Autosomal recessive | Caucasian/European population | 1 in 2302 | Reduced | Reduced | Reduced | Reduced | 1 in 9208 | Reduced | 1 in 4 |

AP4B1 | Spastic paraplegia, type 47, autosomal recessive | Autosomal recessive | General population | <1 in 500 | <1 in 1143 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 4571 | <1 in 2000 | <1 in 4571 | 1 in 4 |

AP4E1 | Spastic paraplegia 51, autosomal recessive | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |

AP4M1 | Spastic paraplegia, type 50, autosomal recessive | Autosomal recessive | General population | <1 in 500 | <1 in 1999 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 7996 | <1 in 2000 | <1 in 7996 | 1 in 4 |

AP4S1 | Spastic paraplegia, type 52, autosomal recessive | Autosomal recessive | General population | <1 in 500 | <1 in 1666 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 6664 | <1 in 2000 | <1 in 6664 | 1 in 4 |

AP5Z1 | Spastic paraplegia, type 48, autosomal recessive | Autosomal recessive | General population | <1 in 500 | <1 in 654 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 2617 | <1 in 2000 | <1 in 2617 | 1 in 4 |

APOC2 | Hyperlipoproteinemia, type 1B | Autosomal recessive | General population | ≤1 in 500 | <1 in 1999 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 7996 | <1 in 2000 | <1 in 7996 | 1 in 4 |

APOE | Sea-blue histiocyte disease | Autosomal recessive | General population | <1 in 500 | <1 in 731 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 2924 | <1 in 2000 | <1 in 2924 | 1 in 4 |

APRT | Adenine phosphoribosyltransferase deficiency | Autosomal recessive | Caucasian/European population | 1 in 125 | 1 in 414 | 1 in 207167 | 1 in 686688 | 1 in 1657 | 1 in 500 | 1 in 1657 | 1 in 4 |

APTX | Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia | Autosomal recessive | Europe (Portugal) population | 1 in 247 | 1 in 2219 | <1 in 1,000,000 | <1 in 1,000,000 | 1 in 8876 | 1 in 990 | 1 in 8876 | 1 in 4 |

AQP2 | Diabetes insipidus, nephrogenic, type 2 | Autosomal recessive* | Caucasian/European African/African American East Asian South Asian Latino | 1 in 721 1 in 864 1 in 676 1 in 3078 1 in 458 | 1 in 1,773 1 in 2127 1 in 1664 1 in 7577 1 in 1127 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 7093 1 in 8507 1 in 6656 1 in 30306 1 in 4510 | 1 in 2884 1 in 3456 1 in 2704 1 in 12312 1 in 1832 | 1 in 7093 1 in 8507 1 in 6656 1 in 30306 1 in 4510 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

AR | Androgen insensitivity syndrome, complete | X-linked | General African/African American East Asian South Asian Latino | 1 in 16,639 N/A N/A N/A N/A | 1 in 37,670 N/A N/A N/A N/A | 1 in 150679 N/A N/A N/A N/A | - - - - - | - - - - - | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 | - - - - - | - - - - - |

ARFGEF2 | Periventricular heterotopia with microcephaly | Autosomal recessive | General population | N/A | N/A | N/A | N/A | N/A | N/A | N/A | 1 in 4 |

ARG1 | Argininemia (arginase deficiency) | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 2,559 1 in 497 1 in 4596 1 in 7655 1 in 775 | 1 in 6,745 1 in 1310 1 in 12117 1 in 20181 1 in 2043 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 26979 1 in 5241 1 in 48467 1 in 80725 1 in 8173 | 1 in 10236 1 in 1988 1 in 18384 1 in 30620 1 in 3100 | 1 in 26979 1 in 5241 1 in 48467 1 in 80725 1 in 8173 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

ARHGDIA | Nephrotic syndrome, type 8 | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |

ARHGEF18 | Retinitis pigmentosa 78 | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |

ARHGEF9 | Developmental and epileptic encephalopathy, type 8 | X-linked | General population | <1 in 500,000 | <1 in 678572 | <1 in 1,000,000 | - | - | 1 in 4 | - | - |

ARL13B | Joubert syndrome type 8 | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 72 1 in 45 1 in 65 1 in 52 1 in 41 | 1 in 119 1 in 75 1 in 108 1 in 87 1 in 68 | 1 in 34368 1 in 13500 1 in 28167 1 in 18027 1 in 11207 | 1 in 56962 1 in 22500 1 in 46944 1 in 30044 1 in 18678 | 1 in 477 1 in 300 1 in 433 1 in 347 1 in 273 | 1 in 288 1 in 180 1 in 260 1 in 208 1 in 164 | 1 in 477 1 in 300 1 in 433 1 in 347 1 in 273 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

ARL2BP | Retinitis pigmentosa with or without situs inversus | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |

ARL6 | Bardet-Biedl syndrome, type 3 | Autosomal recessive | Caucasian/European population | 1 in 2946 | 1 in 13744 | <1 in 1,000,000 | <1 in 1,000,000 | 1 in 54977 | 1 in 11784 | 1 in 54977 | 1 in 4 |

ARMC9 | Joubert syndrome 30 | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |

ARPC1B | Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |

ARSA | Metachromatic leukodystrophy | Autosomal recessive | General African/African American East Asian South Asian Latino Ashkenazi Jewish Sephardic Jewish | 1 in 135 1 in 239 1 in 364 1 in 371 1 in 503 1 in 815 1 in 46 | 1 in 2,686 1 in 4780 1 in 7280 1 in 7420 1 in 10060 1 in 4060 1 in 1533 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 282133 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 10743 1 in 19120 1 in 29120 1 in 29680 1 in 40240 1 in 16240 1 in 6133 | 1 in 541 1 in 956 1 in 1456 1 in 1484 1 in 2012 1 in 3248 1 in 184 | 1 in 10743 1 in 19120 1 in 29120 1 in 29680 1 in 40240 1 in 16240 1 in 6133 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

ARSB | Mucopolysaccharidosis, type 6 (Maroteaux-Lamy syndrome) | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 314 1 in 664 1 in 1437 1 in 2198 1 in 4195 | 1 in 1,023 1 in 2169 1 in 4694 1 in 7180 1 in 13704 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 4094 1 in 8676 1 in 18777 1 in 28721 1 in 54815 | 1 in 1256 1 in 2656 1 in 5748 1 in 8792 1 in 16780 | 1 in 4094 1 in 8676 1 in 18777 1 in 28721 1 in 54815 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

ARSL | Chondrodysplasia punctata, brachytelephalangic | X-linked | General African/African American East Asian South Asian Latino | 1 in 250,000 N/A N/A N/A N/A | 1 in 477,528 N/A N/A N/A N/A | <1 in 1,000,000 N/A N/A N/A N/A | - - - - - | - - - - - | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 | - - - - - | - - - - - |

ARV1 | Epileptic encephalopathy, early infantile, 38 | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |

ARX | Epileptic encephalopathy, early infantile, type 1; ARX-related developmental disorders | X-linked | General African/African American East Asian South Asian Latino | 1 in 37,038 N/A N/A N/A N/A | 1 in 64,815 N/A N/A N/A N/A | 1 in 259261 N/A N/A N/A N/A | - - - - - | - - - - - | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 | - - - - - | - - - - - |

ASAH1 | Farber lipogranulomatosis; Spinal muscular atrophy with progressive myoclonic epilepsy | Autosomal recessive | General population | 1 in 500 | 1 in 598 | <1 in 1,000,000 | <1 in 1,000,000 | 1 in 2393 | 1 in 2002 | 1 in 2393 | 1 in 4 |

ASL | Argininosuccinic aciduria | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 117 1 in 375 1 in 444 1 in 527 1 in 437 | 1 in 372 1 in 1199 1 in 1420 1 in 1685 1 in 1397 | 1 in 174063 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 553328 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 1488 1 in 4797 1 in 5679 1 in 6741 1 in 5590 | 1 in 468 1 in 1500 1 in 1776 1 in 2108 1 in 1748 | 1 in 1488 1 in 4797 1 in 5679 1 in 6741 1 in 5590 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

ASNS | Asparagine synthetase deficiency | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish Sephardic Jewish | 1 in 2,023 1 in 16915 1 in 570 1 in 765 1 in 795 <1 in 500 1 in 80 | 1 in 2,567 1 in 21469 1 in 723 1 in 971 1 in 1009 1 in 167833 1 in 2667 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 853333 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 10270 1 in 85876 1 in 2894 1 in 3884 1 in 4036 1 in 671333 1 in 10667 | 1 in 8092 1 in 67660 1 in 2280 1 in 3060 1 in 3180 1 in 20140 1 in 320 | 1 in 10270 1 in 85876 1 in 2894 1 in 3884 1 in 4036 1 in 671333 1 in 10667 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

ASPA | Canavan disease | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish | 1 in 486 1 in 741 N/A 1 in 1923 1 in 899 1 in 46 | 1 in 1,458 1 in 2226 N/A 1 in 5778 1 in 2701 1 in 4768 | <1 in 1,000,000 <1 in 1,000,000 N/A <1 in 1,000,000 <1 in 1,000,000 1 in 909230 | <1 in 1,000,000 <1 in 1,000,000 N/A <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 5833 1 in 8906 N/A 1 in 23111 1 in 10804 1 in 19071 | 1 in 1944 1 in 2964 N/A 1 in 7692 1 in 3596 1 in 191 | 1 in 5833 1 in 8906 N/A 1 in 23111 1 in 10804 1 in 19071 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

ASPH | Traboulsi syndrome | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |

ASPM | Primary microcephaly type 5, autosomal recessive | Autosomal recessive | General population | N/A | N/A | N/A | N/A | N/A | N/A | N/A | 1 in 4 |

ASS1 | Citrullinemia, type 1 | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 323 1 in 339 1 in 809 1 in 192 1 in 304 | 1 in 1,124 1 in 1182 1 in 2820 1 in 669 1 in 1060 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 514040 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 4494 1 in 4727 1 in 11281 1 in 2677 1 in 4239 | 1 in 1292 1 in 1356 1 in 3236 1 in 768 1 in 1216 | 1 in 4494 1 in 4727 1 in 11281 1 in 2677 1 in 4239 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

ATAD1 | Hyperekplexia 4 | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |

ATCAY | Ataxia, cerebellar, Cayman type | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |

ATF6 | Achromatopsia, type 7 | Autosomal recessive | General population | 1 in 80 | 1 in 127 | 1 in 40449 | 1 in 64414 | 1 in 508 | 1 in 319 | 1 in 508 | 1 in 4 |

ATIC | AICA-ribosiduria due to ATIC deficiency | Autosomal recessive | General population | <1 in 500 | <1 in 750 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 3001 | <1 in 2000 | <1 in 3001 | 1 in 4 |

ATM | Ataxia-telangiectasia | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish | 1 in 150 1 in 200 1 in 152 1 in 211 1 in 240 1 in 180 | 1 in 675 1 in 905 1 in 688 1 in 955 1 in 1086 1 in 18000 | 1 in 405051 1 in 723849 1 in 418095 1 in 805662 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 2700 1 in 3619 1 in 2751 1 in 3818 1 in 4343 1 in 72000 | 1 in 600 1 in 800 1 in 608 1 in 844 1 in 960 1 in 720 | 1 in 2700 1 in 3619 1 in 2751 1 in 3818 1 in 4343 1 in 72000 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

ATOH7 | Persistent hyperplastic primary vitreous, autosomal recessive | Autosomal recessive | General population | N/A | N/A | N/A | N/A | N/A | N/A | N/A | 1 in 4 |

ATP11C | ?Hemolytic anemia, congenital, X-linked | X-linked | General population | ≤1 in 500 | Reduced | Reduced | - | - | 1 in 4 | - | - |

ATP13A2 | Kufor-Rakeb syndrome; Spastic paraplegia, type 78, autosomal recessive | Autosomal recessive | Caucasian/European population | 1 in 221 | 1 in 514 | 1 in 454671 | <1 in 1,000,000 | 1 in 2057 | 1 in 884 | 1 in 2057 | 1 in 4 |

ATP2A1 | Brody myopathy | Autosomal recessive | General population | <1 in 500 | <1 in 822 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 3286 | <1 in 2000 | <1 in 3286 | 1 in 4 |

ATP2B3 | ?Spinocerebellar ataxia, X-linked 1 (SCAX1) | X-linked | General population | ≤1 in 500 | Reduced | Reduced | - | - | 1 in 4 | - | - |

ATP5F1E | Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3 | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |

ATP6AP1 | Immunodeficiency 47 | X-linked | General population | ≤1 in 500 | Reduced | Reduced | - | - | 1 in 4 | - | - |

ATP6AP2 | Mental retardation, X-linked, syndromic, Hedera type | X-linked | General population | ≤1 in 500 | Reduced | Reduced | - | - | 1 in 4 | - | - |

ATP6V0A2 | Cutis laxa, autosomal recessive, type 2A; Wrinkly skin syndrome | Autosomal recessive | Caucasian/European population | 1 in 600 | 1 in 3395 | <1 in 1,000,000 | <1 in 1,000,000 | 1 in 13581 | 1 in 2400 | 1 in 13581 | 1 in 4 |

ATP6V0A4 | Renal tubular acidosis, distal, autosomal recessive | Autosomal recessive | Caucasian/European population | 1 in 853 | 1 in 1279 | <1 in 1,000,000 | <1 in 1,000,000 | 1 in 5116 | 1 in 3412 | 1 in 5116 | 1 in 4 |

ATP6V1A | Cutis laxa, autosomal recessive, type 2D | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |

ATP6V1B1 | Renal tubular acidosis with deafness | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish Sephardic Jewish | 1 in 1,092 1 in 1219 1 in 851 1 in 1017 1 in 742 <1 in 500 1 in 140 | 1 in 2,401 1 in 2682 1 in 1872 1 in 2237 1 in 1632 1 in 167733 1 in 4667 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 9605 1 in 10727 1 in 7489 1 in 8950 1 in 6530 1 in 670933 1 in 18667 | 1 in 4368 1 in 4876 1 in 3404 1 in 4068 1 in 2968 1 in 20128 1 in 560 | 1 in 9605 1 in 10727 1 in 7489 1 in 8950 1 in 6530 1 in 670933 1 in 18667 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

ATP6V1E1 | Cutis laxa, autosomal recessive, type 2C | Autosomal recessive | Caucasian/European population | 1 in 28370 | Reduced | Reduced | Reduced | Reduced | 1 in 113480 | Reduced | 1 in 4 |

ATP7A | Menkes disease; Occipital horn syndrome | X-linked | General African/African American East Asian South Asian Latino | 1 in 150,000 N/A 1 in 180000 N/A N/A | 1 in 501,722 N/A 1 in 602069 N/A N/A | <1 in 1,000,000 N/A <1 in 1,000,000 N/A N/A | - - - - - | - - - - - | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 | - - - - - | - - - - - |

ATP7B | Wilson disease | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish | 1 in 42 1 in 146 1 in 32 1 in 78 1 in 63 1 in 70 | 1 in 249 1 in 884 1 in 194 1 in 472 1 in 381 1 in 2333 | 1 in 41867 1 in 516172 1 in 24796 1 in 147326 1 in 96110 1 in 653333 | 1 in 248415 <1 in 1,000,000 1 in 150113 1 in 891881 1 in 581834 <1 in 1,000,000 | 1 in 997 1 in 3535 1 in 775 1 in 1889 1 in 1526 1 in 9333 | 1 in 168 1 in 584 1 in 128 1 in 312 1 in 252 1 in 280 | 1 in 997 1 in 3535 1 in 775 1 in 1889 1 in 1526 1 in 9333 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

ATP8B1 | Cholestasis, progressive familial intrahepatic, type 1; Cholestasis, benign recurrent intrahepatic, type 1 | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 738 1 in 718 1 in 1127 1 in 1679 1 in 1567 | 1 in 1,803 1 in 1755 1 in 2755 1 in 4104 1 in 3830 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 7210 1 in 7020 1 in 11020 1 in 16417 1 in 15322 | 1 in 2952 1 in 2872 1 in 4508 1 in 6716 1 in 6268 | 1 in 7210 1 in 7020 1 in 11020 1 in 16417 1 in 15322 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

ATR | Seckel syndrome, type 1 | Autosomal recessive | General population | <1 in 500 | <1 in 1300 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 5199 | <1 in 2000 | <1 in 5199 | 1 in 4 |

ATRX | Mental retardation-hypotonic facies syndrome, X-linked; Alpha-thalassemia/mental retardation syndrome | X-linked | General African/African American East Asian South Asian Latino | 1 in 500,000 N/A N/A N/A N/A | 1 in 919,360 N/A N/A N/A N/A | <1 in 1,000,000 N/A N/A N/A N/A | - - - - - | - - - - - | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 | - - - - - | - - - - - |

AUH | 3-methylglutaconic aciduria, type 1 | Autosomal recessive | General African/African American East Asian South Asian Latino | <1 in 500 N/A N/A N/A N/A | <1 in 938 N/A N/A N/A N/A | <1 in 1,000,000 N/A N/A N/A N/A | <1 in 1,000,000 N/A N/A N/A N/A | 1 in 3750 N/A N/A N/A N/A | 1 in 2002 N/A N/A N/A N/A | 1 in 3750 N/A N/A N/A N/A | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

AURKC | Male infertility spermatogenic failure, type 5 | Autosomal recessive | General population | N/A | N/A | N/A | N/A | N/A | N/A | N/A | 1 in 4 |

AVIL | Nephrotic syndrome, type 21 | Autosomal recessive | General population | 1 in 2723 | Reduced | Reduced | Reduced | Reduced | 1 in 10892 | Reduced | 1 in 4 |

AVPR2 | Diabetes insipidus, nephrogenic, type 1; Nephrogenic syndrome of inappropriate antidiuresis (NSIAD) | X-linked | General population | 1 in 10001 | 1 in 28236 | 1 in 112943 | - | - | 1 in 4 | - | - |

B2M | Immunodeficiency, type 43 | Autosomal recessive | General population | <1 in 500 | <1 in 700 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 2801 | <1 in 2000 | <1 in 2801 | 1 in 4 |

B3GALNT2 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11 | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |

B3GALT6 | Ehlers-Danlos syndrome, spondylodysplastic type, 2 | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |

B3GAT3 | Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects | Autosomal recessive | General population | <1 in 500 | <1 in 1125 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 4500 | <1 in 2000 | <1 in 4500 | 1 in 4 |

B3GLCT | Peters-plus syndrome | Autosomal recessive | General population | ≤1 in 500 | <1 in 1125 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 4500 | <1 in 2000 | <1 in 4500 | 1 in 4 |

B4GALNT1 | Spastic paraplegia 26, autosomal recessive | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |

B4GALT1 | Congenital disorder of glycosylation, type 2D | Autosomal recessive | General African/African American East Asian South Asian Latino | <1 in 500 N/A N/A N/A N/A | <1 in 50,000 N/A N/A N/A N/A | <1 in 1,000,000 N/A N/A N/A N/A | <1 in 1,000,000 N/A N/A N/A N/A | 1 in 199804 N/A N/A N/A N/A | 1 in 2002 N/A N/A N/A N/A | 1 in 199804 N/A N/A N/A N/A | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

B4GALT7 | Ehlers-Danlos syndrome, spondylodysplastic, type 1 | Autosomal recessive | General population | ≤1 in 500 | <1 in 800 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 3201 | <1 in 2000 | <1 in 3201 | 1 in 4 |

B4GAT1 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13 | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |

B9D1 | Joubert syndrome, type 27 | Autosomal recessive | Caucasian/European population | 1 in 571 | 1 in 685 | <1 in 1,000,000 | <1 in 1,000,000 | 1 in 2740 | 1 in 2284 | 1 in 2740 | 1 in 4 |

B9D2 | Joubert syndrome type 34; Meckel syndrome type 10 | Autosomal recessive | Caucasian/European population | 1 in 4005 | 1 in 5607 | <1 in 1,000,000 | <1 in 1,000,000 | 1 in 22426 | 1 in 16020 | 1 in 22426 | 1 in 4 |

BAAT | Hypercholanemia, familial | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |

BANF1 | Nestor-Guillermo progeria syndrome | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |

BBS1 | Bardet-Biedl syndrome, type 1 | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 152 1 in 243 1 in 1725 1 in 185 1 in 417 | 1 in 490 1 in 787 1 in 5586 1 in 599 1 in 1350 | 1 in 297891 1 in 764825 <1 in 1,000,000 1 in 443295 <1 in 1,000,000 | 1 in 960213 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 1960 1 in 3147 1 in 22343 1 in 2396 1 in 5401 | 1 in 608 1 in 972 1 in 6900 1 in 740 1 in 1668 | 1 in 1960 1 in 3147 1 in 22343 1 in 2396 1 in 5401 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

BBS10 | Bardet-Biedl syndrome, type 10 | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 237 1 in 470 1 in 428 1 in 425 1 in 1204 | 1 in 666 1 in 1325 1 in 1206 1 in 1198 1 in 3393 | 1 in 631454 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 2664 1 in 5298 1 in 4825 1 in 4791 1 in 13572 | 1 in 948 1 in 1880 1 in 1712 1 in 1700 1 in 4816 | 1 in 2664 1 in 5298 1 in 4825 1 in 4791 1 in 13572 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

BBS12 | Bardet-Biedl syndrome, type 12 | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 613 1 in 843 1 in 4450 1 in 438 1 in 644 | 1 in 798 1 in 1098 1 in 5798 1 in 571 1 in 839 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 999914 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 3194 1 in 4394 1 in 23194 1 in 2283 1 in 3357 | 1 in 2452 1 in 3372 1 in 17800 1 in 1752 1 in 2576 | 1 in 3194 1 in 4394 1 in 23194 1 in 2283 1 in 3357 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

BBS2 | Bardet-Biedl syndrome, type 2 | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish | 1 in 333 1 in 741 1 in 148 1 in 855 1 in 1126 1 in 140 | 1 in 3,255 1 in 7262 1 in 1450 1 in 8379 1 in 11035 1 in 14000 | <1 in 1,000,000 <1 in 1,000,000 1 in 858637 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 13018 1 in 29047 1 in 5802 1 in 33516 1 in 44139 1 in 56000 | 1 in 1332 1 in 2964 1 in 592 1 in 3420 1 in 4504 1 in 560 | 1 in 13018 1 in 29047 1 in 5802 1 in 33516 1 in 44139 1 in 56000 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

BBS4 | Bardet-Biedl syndrome, type 4 | Autosomal recessive | Caucasian/European population | 1 in 418 | 1 in 725 | <1 in 1,000,000 | <1 in 1,000,000 | 1 in 2901 | 1 in 1672 | 1 in 2901 | 1 in 4 |

BBS5 | Bardet-Biedl syndrome, type 5 | Autosomal recessive | Caucasian/European population | 1 in 66 | 1 in 73 | 1 in 19140 | 1 in 21025 | 1 in 290 | 1 in 264 | 1 in 290 | 1 in 4 |

BBS7 | Bardet-Biedl syndrome, type 7 | Autosomal recessive | Caucasian/European population | 1 in 588 | 1 in 1091 | <1 in 1,000,000 | <1 in 1,000,000 | 1 in 4365 | 1 in 2352 | 1 in 4365 | 1 in 4 |

BBS9 | Bardet-Biedl syndrome, type 9 | Autosomal recessive | Caucasian/European population | 1 in 680 | 1 in 1853 | <1 in 1,000,000 | <1 in 1,000,000 | 1 in 7411 | 1 in 2720 | 1 in 7411 | 1 in 4 |

BCAP31 | Deafness, dystonia, and cerebral hypomyelination | X-linked | General population | ≤1 in 500 | <1 in 1333333 | <1 in 1,000,000 | - | - | 1 in 4 | - | - |

BCAT2 | ?Hypervalinemia or hyperleucine-isoleucinemia | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |

BCKDHA | Maple syrup urine disease, type 1A | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 555 1 in 478 1 in 869 1 in 1068 1 in 837 | 1 in 2,317 1 in 1998 1 in 3632 1 in 4464 1 in 3499 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 9267 1 in 7992 1 in 14530 1 in 17857 1 in 13995 | 1 in 2220 1 in 1912 1 in 3476 1 in 4272 1 in 3348 | 1 in 9267 1 in 7992 1 in 14530 1 in 17857 1 in 13995 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

BCKDHB | Maple syrup urine disease, type 1B | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish | 1 in 306 1 in 608 1 in 666 1 in 1665 1 in 412 1 in 97 | 1 in 990 1 in 1971 1 in 2159 1 in 5398 1 in 1336 1 in 9736 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 3959 1 in 7884 1 in 8636 1 in 21591 1 in 5343 1 in 38944 | 1 in 1224 1 in 2432 1 in 2664 1 in 6660 1 in 1648 1 in 389 | 1 in 3959 1 in 7884 1 in 8636 1 in 21591 1 in 5343 1 in 38944 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

BCKDK | Branched-chain ketoacid dehydrogenase kinase deficiency | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |

BCL10 | ?Immunodeficiency 37 | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |

BCOR | Microphthalmia, syndromic, type 2 | X-linked | General population | ≤1 in 500 | <1 in 904762 | <1 in 1,000,000 | - | - | 1 in 4 | - | - |

BCS1L | BCS1L-related disorders, including Leigh syndrome | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 385 1 in 457 1 in 822 1 in 616 1 in 552 | 1 in 1,230 1 in 1462 1 in 2630 1 in 1971 1 in 1766 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 4919 1 in 5850 1 in 10522 1 in 7885 1 in 7066 | 1 in 1540 1 in 1828 1 in 3288 1 in 2464 1 in 2208 | 1 in 4919 1 in 5850 1 in 10522 1 in 7885 1 in 7066 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

BEST1 | Bestrophinopathy, AR | Autosomal recessive | General population | ≤1 in 500 | <1 in 694 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 2776 | <1 in 2000 | <1 in 2776 | 1 in 4 |

BFSP1 | Cataract 33, multiple types | Autosomal recessive* | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |

BGN | Spondyloepimetaphyseal dysplasia, X-linked; Meester-Loeys syndrome | X-linked | General population | ≤1 in 500 | Reduced | Reduced | - | - | 1 in 4 | - | - |

BHLHA9 | Syndactyly, mesoaxial synostotic, with phalangeal reduction | Autosomal recessive | General population | ≤1 in 500 | <1 in 1999 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 7996 | <1 in 2000 | <1 in 7996 | 1 in 4 |

BIN1 | Centronuclear myopathy, type 2 | Autosomal recessive | General population | ≤1 in 500 | <1 in 1100 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 4400 | <1 in 2000 | <1 in 4400 | 1 in 4 |

BLM | Bloom syndrome | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish | 1 in 358 1 in 532 1 in 337 1 in 636 1 in 495 1 in 119 | 1 in 35,701 1 in 53200 1 in 33700 1 in 63600 1 in 49500 1 in 4012 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 643838 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 142804 1 in 212800 1 in 134800 1 in 254400 1 in 198000 1 in 16048 | 1 in 1432 1 in 2128 1 in 1348 1 in 2544 1 in 1980 1 in 160 | 1 in 142804 1 in 212800 1 in 134800 1 in 254400 1 in 198000 1 in 16048 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

BLNK | ?Agammaglobulinemia 4 | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |

BLOC1S3 | Hermansky-Pudlak syndrome 8 | Autosomal recessive | Caucasian/European population | 1 in 1818 | Reduced | Reduced | Reduced | Reduced | 1 in 7272 | Reduced | 1 in 4 |

BLOC1S6 | ?Hermansky-pudlak syndrome 9 | Autosomal recessive | Caucasian/European population | 1 in 365 | Reduced | Reduced | Reduced | Reduced | 1 in 1460 | Reduced | 1 in 4 |

BLVRA | Hyperbiliverdinemia | Autosomal recessive* | General population | ≤1 in 500 | <1 in 49951 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 199804 | <1 in 2000 | <1 in 199804 | 1 in 4 |

BMP1 | Osteogenesis imperfecta, type 13 | Autosomal recessive | Caucasian/European population | 1 in 643 | 1 in 1927 | <1 in 1,000,000 | <1 in 1,000,000 | 1 in 7708 | 1 in 2572 | 1 in 7708 | 1 in 4 |

BMP15 | Ovarian dysgenesis 2 | X-linked | General population | ≤1 in 500 | <1 in 666667 | <1 in 1,000,000 | - | - | 1 in 4 | - | - |

BMPER | Diaphanospondylodysostosis | Autosomal recessive | General population | ≤1 in 500 | <1 in 1000 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 4000 | <1 in 2000 | <1 in 4000 | 1 in 4 |

BMPR1B | Acromesomelic dysplasia, Demirhan type | Autosomal recessive | General population | ≤1 in 500 | <1 in 1500 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 5998 | <1 in 2000 | <1 in 5998 | 1 in 4 |

BOLA3 | Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia | Autosomal recessive | General population | ≤1 in 500 | <1 in 1000 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 4000 | <1 in 2000 | <1 in 4000 | 1 in 4 |

BPGM | Erythrocytosis due to bisphosphoglycerate mutase deficiency | Autosomal recessive | General population | ≤1 in 500 | <1 in 667 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 2668 | <1 in 2000 | <1 in 2668 | 1 in 4 |

BPNT2 | Chondrodysplasia with joint dislocations, GPAPP type | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |

BRAT1 | Rigidity and multifocal seizure syndrome, lethal neonatal; Neurodevelopmental disorder with cerebellar atrophy and with or without seizures | Autosomal recessive | General population | ≤1 in 500 | <1 in 1125 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 4500 | <1 in 2000 | <1 in 4500 | 1 in 4 |

BRF1 | Cerebellofaciodental syndrome | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |

BRIP1 | Fanconi anemia, complementation group J | Autosomal recessive | Caucasian/European population | 1 in 295 | 1 in 670 | 1 in 791043 | <1 in 1,000,000 | 1 in 2682 | 1 in 1180 | 1 in 2682 | 1 in 4 |

BRWD3 | Mental retardation, X-linked, type 93 | X-linked | General African/African American East Asian South Asian Latino | 1 in 45,000 N/A N/A N/A N/A | 1 in 65,000 N/A N/A N/A N/A | 1 in 259998 N/A N/A N/A N/A | - - - - - | - - - - - | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 | - - - - - | - - - - - |

BSCL2 | Congenital generalized lipodystrophy, type 2; Encephalopathy, progressive, with or without lipodystrophy | Autosomal recessive | General population | ≤1 in 500 | <1 in 1131 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 4526 | <1 in 2000 | <1 in 4526 | 1 in 4 |

BSND | Bartter syndrome, type 4A | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 916 1 in 186 1 in 687 1 in 733 1 in 2856 | 1 in 2,014 1 in 409 1 in 1511 1 in 1613 1 in 6283 | <1 in 1,000,000 1 in 304445 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 1 in 669779 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 8056 1 in 1637 1 in 6046 1 in 6450 1 in 25133 | 1 in 3664 1 in 744 1 in 2748 1 in 2932 1 in 11424 | 1 in 8056 1 in 1637 1 in 6046 1 in 6450 1 in 25133 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

BTD | Biotinidase deficiency | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 120 1 in 52 1 in 324 1 in 7 1 in 136 | 1 in 477 1 in 208 1 in 1296 1 in 28 1 in 544 | 1 in 228960 1 in 43264 <1 in 1,000,000 1 in 784 1 in 295936 | 1 in 910116 1 in 173056 <1 in 1,000,000 1 in 3136 <1 in 1,000,000 | 1 in 1908 1 in 832 1 in 5184 1 in 112 1 in 2176 | 1 in 480 1 in 208 1 in 1296 1 in 28 1 in 544 | 1 in 1908 1 in 832 1 in 5184 1 in 112 1 in 2176 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

BTK | Agammaglobulinemia X-linked, type 1 | X-linked | General African/African American East Asian South Asian Latino | 1 in 126,556 N/A N/A N/A N/A | 1 in 275,310 N/A N/A N/A N/A | <1 in 1,000,000 N/A N/A N/A N/A | - - - - - | - - - - - | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 | - - - - - | - - - - - |

BUB1B | Mosaic variegated aneuploidy syndrome 1 | Autosomal recessive | General population | ≤1 in 500 | <1 in 885 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 3539 | <1 in 2000 | <1 in 3539 | 1 in 4 |

C12orf57 | Temtamy syndrome | Autosomal recessive | General population | ≤1 in 500 | <1 in 625 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 2502 | <1 in 2000 | <1 in 2502 | 1 in 4 |

C12orf65 | Combined oxidative phosphorylation deficiency 7; Spastic paraplegia, type 55, autosomal recessive | Autosomal recessive | General population | ≤1 in 500 | <1 in 1500 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 5998 | <1 in 2000 | <1 in 5998 | 1 in 4 |

C19orf12 | Neurodegeneration with brain iron accumulation, type 4 | Autosomal recessive* | Caucasian/European population | 1 in 201 | 1 in 301 | 1 in 242004 | 1 in 362404 | 1 in 1204 | 1 in 804 | 1 in 1204 | 1 in 4 |

C1QA | C1q deficiency | Autosomal recessive | General population | ≤1 in 500 | <1 in 1500 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 5998 | <1 in 2000 | <1 in 5998 | 1 in 4 |

C1QB | C1q deficiency | Autosomal recessive | General population | ≤1 in 500 | <1 in 750 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 3001 | <1 in 2000 | <1 in 3001 | 1 in 4 |

C1QBP | Combined oxidative phosphorylation deficiency 33 | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |

C1QC | C1q deficiency | Autosomal recessive | General population | ≤1 in 500 | <1 in 1000 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 4000 | <1 in 2000 | <1 in 4000 | 1 in 4 |

C1S | C1s deficiency | Autosomal recessive | General population | ≤1 in 500 | <1 in 1000 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 4000 | <1 in 2000 | <1 in 4000 | 1 in 4 |

C2 | C2 deficiency | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |

C2CD3 | Orofaciodigital syndrome, type 14 | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |

C3 | Complement component 3 deficiency | Autosomal recessive | General population | ≤1 in 500 | <1 in 3997 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 15988 | <1 in 2000 | <1 in 15988 | 1 in 4 |

C4A | C4a deficiency | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |

C5 | Complement component 5 deficiency | Autosomal recessive | General population | ≤1 in 500 | <1 in 1250 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 4999 | <1 in 2000 | <1 in 4999 | 1 in 4 |

C6 | Complement component 6 deficiency | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |

C7 | Complement component 7 deficiency | Autosomal recessive | General population | ≤1 in 500 | <1 in 750 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 3001 | <1 in 2000 | <1 in 3001 | 1 in 4 |

C8A | C8 deficiency, type I | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |

C8B | Complement component 8 deficiency, type 2 | Autosomal recessive | General population | ≤1 in 500 | <1 in 49951 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 199804 | <1 in 2000 | <1 in 199804 | 1 in 4 |

C8orf37 | Bardet-Biedl syndrome, type 21; Cone-rod dystrophy 16 and Retintis pigmentosa 64 | Autosomal recessive | General population | ≤1 in 500 | <1 in 857 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 3429 | <1 in 2000 | <1 in 3429 | 1 in 4 |

CA12 | Hyperchlorhidrosis, isolated | Autosomal recessive | General population | ≤1 in 500 | <1 in 1999 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 7996 | <1 in 2000 | <1 in 7996 | 1 in 4 |

CA2 | Osteopetrosis with renal tubular acidosis (osteopetrosis, autosomal recessive, type 3) | Autosomal recessive | General African/African American East Asian South Asian Latino | <1 in 500 N/A N/A N/A N/A | <1 in 1,000 N/A N/A N/A N/A | <1 in 1,000,000 N/A N/A N/A N/A | <1 in 1,000,000 N/A N/A N/A N/A | 1 in 4000 N/A N/A N/A N/A | 1 in 2002 N/A N/A N/A N/A | 1 in 4000 N/A N/A N/A N/A | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

CA5A | Hyperammonemia due to carbonic anhydrase VA deficiency | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |

CA8 | Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3 | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |

CABP2 | Deafness, autosomal recessive 93 | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |

CABP4 | Congenital stationary night blindness, type 2B | Autosomal recessive | General population | ≤1 in 500 | <1 in 834 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 3334 | <1 in 2000 | <1 in 3334 | 1 in 4 |

CACNA1D | Sinoatrial node dysfunction and deafness | Autosomal recessive | General population | ≤1 in 500 | <1 in 1000 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 4000 | <1 in 2000 | <1 in 4000 | 1 in 4 |

CACNA1F | Cone-rod dystrophy, X-linked, type 3; Night blindness, congenital stationary, type 2A; Aland Island eye disease | X-linked | General population | ≤1 in 500 | <1 in 820513 | <1 in 1,000,000 | - | - | 1 in 4 | - | - |

CACNA2D4 | Retinal cone dystrophy 4 | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |

CAD | Epileptic encephalopathy, early infantile, 50 | Autosomal recessive | Caucasian/European population | 1 in 207 | Reduced | Reduced | Reduced | Reduced | 1 in 828 | Reduced | 1 in 4 |

CALCRL | ?Lymphatic malformation 8 | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |

CANT1 | Desbuquois dysplasia, type 1; Epiphyseal dysplasia, multiple, type 7 | Autosomal recessive | General Population | 1 in 500 | 1 in 899 | <1 in 1,000,000 | <1 in 1,000,000 | 1 in 3597 | 1 in 2000 | 1 in 3597 | 1 in 4 |

CAPN1 | Spastic paraplegia 76, autosomal recessive | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |

CAPN3 | Limb-girdle muscular dystrophy, type 1 (LGMD R1) | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 103 1 in 111 1 in 104 1 in 223 1 in 144 | 1 in 7,498 1 in 8158 1 in 7644 1 in 16391 1 in 10584 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 29992 1 in 32634 1 in 30576 1 in 65562 1 in 42336 | 1 in 412 1 in 444 1 in 416 1 in 892 1 in 576 | 1 in 29992 1 in 32634 1 in 30576 1 in 65562 1 in 42336 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

CARD11 | Immunodeficiency 11A | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |

CARD9 | Candidiasis, familial, type 2, autosomal recessive | Autosomal recessive | General population | ≤1 in 500 | <1 in 667 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 2668 | <1 in 2000 | <1 in 2668 | 1 in 4 |

CARS2 | Combined oxidative phosphorylation deficiency 27 | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |

CASK | Mental retardation, X-linked, syndromic, Najm type | X-linked | General population | 1 in 50000 | 1 in 98809 | 1 in 395234 | - | - | 1 in 4 | - | - |

CASP14 | Ichthyosis, congenital, autosomal recessive 12 | Autosomal recessive | Caucasian/European population | 1 in 1323 | Reduced | Reduced | Reduced | Reduced | 1 in 5292 | Reduced | 1 in 4 |

CASQ2 | Ventricular tachycardia, catecholaminergic polymorphic, type 2 | Autosomal recessive | General African/African American East Asian South Asian Latino | 1 in 51 N/A N/A N/A N/A | 1 in 98 N/A N/A N/A N/A | 1 in 19924 N/A N/A N/A N/A | 1 in 38155 N/A N/A N/A N/A | 1 in 391 N/A N/A N/A N/A | 1 in 204 N/A N/A N/A N/A | 1 in 391 N/A N/A N/A N/A | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

CASR | Hyperparathyroidism, neonatal | Autosomal recessive* | General population | ≤1 in 500 | <1 in 1042 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 4167 | <1 in 2000 | <1 in 4167 | 1 in 4 |

CAST | Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads | Autosomal recessive | General population | ≤1 in 500 | <1 in 49951 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 199804 | <1 in 2000 | <1 in 199804 | 1 in 4 |

CAT | Acatalasemia | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |

CATSPER1 | Male infertility spermatogenic failure, type 7 | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |

CAVIN1 | Lipodystrophy, congenital generalized, type 4 | Autosomal recessive | Caucasian/European population | 1 in 6013 | 1 in 54109 | <1 in 1,000,000 | <1 in 1,000,000 | 1 in 216436 | 1 in 24052 | 1 in 216436 | 1 in 4 |

CBLIF | Intrinsic factor deficiency | Autosomal recessive | General population | ≤1 in 500 | <1 in 625 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 2502 | <1 in 2000 | <1 in 2502 | 1 in 4 |

CBS | Homocystinuria due to cystathionine beta-synthase | Autosomal recessive | General African/African American East Asian South Asian Latino | 1 in 128 1 in 188 1 in 589 1 in 523 1 in 202 | 1 in 2,541 1 in 3760 1 in 11780 1 in 10460 1 in 4040 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 10162 1 in 15040 1 in 47120 1 in 41840 1 in 16160 | 1 in 512 1 in 752 1 in 2356 1 in 2092 1 in 808 | 1 in 10162 1 in 15040 1 in 47120 1 in 41840 1 in 16160 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

CC2D1A | Mental retardation, autosomal recessive, type 3 | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |

CC2D2A | Joubert syndrome type 9 | Autosomal recessive | General population | ≤1 in 500 | <1 in 1100 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 4400 | <1 in 2000 | <1 in 4400 | 1 in 4 |

CCBE1 | Hennekam lymphangiectasia-lymphedema syndrome, type 1 | Autosomal recessive | General population | ≤1 in 500 | <1 in 1250 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 4999 | <1 in 2000 | <1 in 4999 | 1 in 4 |

CCDC103 | Ciliary dyskinesia, primary, type 17 | Autosomal recessive | General Population | 1 in 316 | 1 in 631 | 1 in 797584 | <1 in 1,000,000 | 1 in 2524 | 1 in 1264 | 1 in 2524 | 1 in 4 |

CCDC115 | Congenital disorder of glycosylation, type IIo | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |

CCDC174 | Hypotonia, infantile, with psychomotor retardation | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |

CCDC22 | Ritscher-Schinzel syndrome 2 | X-linked | General population | ≤1 in 500 | Reduced | Reduced | - | - | 1 in 4 | - | - |

CCDC39 | Ciliary dyskinesia, primary, type 14 | Autosomal recessive | General Population | 1 in 211 | 1 in 354 | 1 in 298354 | 1 in 499849 | 1 in 1414 | 1 in 844 | 1 in 1414 | 1 in 4 |

CCDC40 | Ciliary dyskinesia, primary, type 15 | Autosomal recessive | General population | ≤1 in 500 | <1 in 1333 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 5332 | <1 in 2000 | <1 in 5332 | 1 in 4 |

CCDC65 | Ciliary dyskinesia, primary, 27 | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |

CCDC8 | 3M syndrome 3 | Autosomal recessive | Caucasian/European population | 1 in 777 | Reduced | Reduced | Reduced | Reduced | 1 in 3108 | Reduced | 1 in 4 |

CCDC88C | Hydrocephalus, congenital, type 1 | Autosomal recessive | General population | ≤1 in 500 | <1 in 1000 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 4000 | <1 in 2000 | <1 in 4000 | 1 in 4 |

CCN6 | Arthropathy, progressive pseudorheumatoid, of childhood | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 674 1 in 469 1 in 706 1 in 303 1 in 643 | 1 in 1,796 1 in 1251 1 in 1883 1 in 808 1 in 1715 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 979296 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 7183 1 in 5003 1 in 7531 1 in 3232 1 in 6859 | 1 in 2696 1 in 1876 1 in 2824 1 in 1212 1 in 2572 | 1 in 7183 1 in 5003 1 in 7531 1 in 3232 1 in 6859 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

CCNO | Ciliary dyskinesia, primary, 29 | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |

CCNQ | STAR syndrome | X-linked | General population | ≤1 in 500 | Reduced | Reduced | - | - | 1 in 4 | - | - |

CCT5 | Neuropathy, hereditary sensory, with spastic paraplegia | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |

CD19 | Immunodeficiency, common variable, type 3 | Autosomal recessive | General population | ≤1 in 500 | <1 in 1167 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 4666 | <1 in 2000 | <1 in 4666 | 1 in 4 |

CD247 | ?Immunodeficiency 25 | Autosomal recessive | Caucasian/European population | 1 in 1295 | Reduced | Reduced | Reduced | Reduced | 1 in 5180 | Reduced | 1 in 4 |

CD27 | Lymphoproliferative syndrome 2 | Autosomal recessive | General population | ≤1 in 500 | <1 in 875 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 3501 | <1 in 2000 | <1 in 3501 | 1 in 4 |

CD2AP | Glomerulosclerosis, focal segmental, type 3, susceptibility to | Autosomal recessive* | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |

CD320 | Methylmalonic aciduria, transient, due to transcobalamin receptor defect | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |

CD36 | Platelet glycoprotein 4 deficiency | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |

CD3D | Immunodeficiency, type 19 | Autosomal recessive | Caucasian/European population | 1 in 944 | 1 in 2830 | <1 in 1,000,000 | <1 in 1,000,000 | 1 in 11320 | 1 in 3776 | 1 in 11320 | 1 in 4 |

CD3E | Immunodeficiency, type 18 | Autosomal recessive | Caucasian/European population | 1 in 4727 | 1 in 8272 | <1 in 1,000,000 | <1 in 1,000,000 | 1 in 33086 | 1 in 18908 | 1 in 33086 | 1 in 4 |

CD3G | Immunodeficiency, type 17, CD3 gamma deficient | Autosomal recessive | Caucasian/European population | 1 in 3171 | 1 in 5284 | <1 in 1,000,000 | <1 in 1,000,000 | 1 in 21137 | 1 in 12684 | 1 in 21137 | 1 in 4 |

CD40 | Immunodeficiency with hyper-IgM, type 3 | Autosomal recessive | General population | ≤1 in 500 | <1 in 1000 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 4000 | <1 in 2000 | <1 in 4000 | 1 in 4 |

CD40LG | Hyper-IgM syndrome, type 1 (immunodeficiency, X-linked, with hyper-IgM, type 1) | X-linked | General African/African American East Asian South Asian Latino | 1 in 250,000 N/A N/A N/A N/A | 1 in 532,258 N/A N/A N/A N/A | <1 in 1,000,000 N/A N/A N/A N/A | - - - - - | - - - - - | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 | - - - - - | - - - - - |

CD55 | Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy (CHAPLE) | Autosomal recessive | General population | ≤1 in 500 | <1 in 1500 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 5998 | <1 in 2000 | <1 in 5998 | 1 in 4 |

CD59 | CD59 Deficiency | Autosomal recessive | General population | ≤1 in 500 | <1 in 49951 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 199804 | <1 in 2000 | <1 in 199804 | 1 in 4 |

CD79A | Agammaglobulinemia 3 | Autosomal recessive | General population | ≤1 in 500 | <1 in 667 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 2668 | <1 in 2000 | <1 in 2668 | 1 in 4 |

CD79B | Agammaglobulinemia 6 | Autosomal recessive | General population | ≤1 in 500 | <1 in 49951 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 199804 | <1 in 2000 | <1 in 199804 | 1 in 4 |

CD81 | Immunodeficiency, common variable, type 6 | Autosomal recessive | General population | ≤1 in 500 | <1 in 49951 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 199804 | <1 in 2000 | <1 in 199804 | 1 in 4 |

CD8A | CD8 deficiency, familial | Autosomal recessive | Caucasian/European population | 1 in 3179 | Reduced | Reduced | Reduced | Reduced | 1 in 12716 | Reduced | 1 in 4 |

CDAN1 | Dyserythropoietic anemia, congenital, type 1A | Autosomal recessive | General population | ≤1 in 500 | <1 in 49951 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 199804 | <1 in 2000 | <1 in 199804 | 1 in 4 |

CDC14A | Deafness, autosomal recessive 105 | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |

CDC45 | Meier-Gorlin syndrome 7 | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |

CDCA7 | Immunodeficiency-centromeric instability-facial anomalies syndrome 3 | Autosomal recessive | Caucasian/European population | 1 in 3526 | Reduced | Reduced | Reduced | Reduced | 1 in 14104 | Reduced | 1 in 4 |

CDH11 | Elsahy-Waters syndrome | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |

CDH23 | Deafness, autosomal recessive, type 12; Usher syndrome, type 1D | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 216 1 in 118 1 in 116 1 in 166 1 in 222 | 1 in 499 1 in 273 1 in 268 1 in 384 1 in 514 | 1 in 430825 1 in 128914 1 in 124581 1 in 255125 1 in 456292 | 1 in 994569 1 in 298386 1 in 288357 1 in 590515 <1 in 1,000,000 | 1 in 1995 1 in 1092 1 in 1074 1 in 1537 1 in 2055 | 1 in 864 1 in 472 1 in 464 1 in 664 1 in 888 | 1 in 1995 1 in 1092 1 in 1074 1 in 1537 1 in 2055 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

CDH3 | Ectodermal dysplasia, ectrodactyly, and macular dystrophy | Autosomal recessive | Caucasian/European population | 1 in 244 | 1 in 433 | 1 in 422608 | 1 in 749956 | 1 in 1732 | 1 in 976 | 1 in 1732 | 1 in 4 |

CDHR1 | Cone-rod dystrophy, type 15 | Autosomal recessive | General population | ≤1 in 500 | <1 in 834 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 3334 | <1 in 2000 | <1 in 3334 | 1 in 4 |

CDIN1 | Dyserythropoietic anemia, congenital, type Ib | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |

CDK10 | Al Kaissi syndrome | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |

CDK5RAP2 | Primary microcephaly type 3, autosomal recessive | Autosomal recessive | General population | ≤1 in 500 | <1 in 2199 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 8795 | <1 in 2000 | <1 in 8795 | 1 in 4 |

CDKL5 | Developmental and epileptic encephalopathy, type 2 | X-linked | General population | ≤1 in 500 | <1 in 1057047 | <1 in 1,000,000 | - | - | 1 in 4 | - | - |

CDSN | Peeling skin syndrome 1 | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |

CDT1 | Meier-Gorlin syndrome, type 4 | Autosomal recessive | General population | ≤1 in 500 | <1 in 1250 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 4999 | <1 in 2000 | <1 in 4999 | 1 in 4 |

CEBPE | Specific granule deficiency | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |

CENPF | Stromme syndrome | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |

CENPJ | Primary microcephaly type 6, autosomal recessive | Autosomal recessive | General population | ≤1 in 500 | <1 in 4746 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 18985 | <1 in 2000 | <1 in 18985 | 1 in 4 |

CEP104 | Joubert syndrome 25 | Autosomal recessive | Caucasian/European population | 1 in 108 | Reduced | Reduced | Reduced | Reduced | 1 in 432 | Reduced | 1 in 4 |

CEP120 | Short-rib thoracic dysplasia 13 with or without polydactyly | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |

CEP135 | Microcephaly 8, primary, autosomal recessive | Autosomal recessive | General population | ≤1 in 500 | <1 in 1167 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 4666 | <1 in 2000 | <1 in 4666 | 1 in 4 |

CEP152 | Primary microcephaly type 9, autosomal recessive | Autosomal recessive | General population | ≤1 in 500 | <1 in 1091 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 4363 | <1 in 2000 | <1 in 4363 | 1 in 4 |

CEP164 | Nephronophthisis 15 | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |

CEP19 | Morbid obesity and spermatogenic failure | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |

CEP290 | Meckel syndrome, type 4; Joubert syndrome, type 5; Leber congenital amaurosis, type 10 | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 97 1 in 131 1 in 32 1 in 222 1 in 199 | 1 in 248 1 in 337 1 in 82 1 in 571 1 in 512 | 1 in 96169 1 in 176513 1 in 10533 1 in 506921 1 in 407325 | 1 in 245733 1 in 453891 1 in 27084 <1 in 1,000,000 <1 in 1,000,000 | 1 in 991 1 in 1347 1 in 329 1 in 2283 1 in 2047 | 1 in 388 1 in 524 1 in 128 1 in 888 1 in 796 | 1 in 991 1 in 1347 1 in 329 1 in 2283 1 in 2047 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

CEP41 | Joubert syndrome, type 15 | Autosomal recessive | General population | ≤1 in 500 | <1 in 667 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 2668 | <1 in 2000 | <1 in 2668 | 1 in 4 |

CEP55 | Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |

CEP57 | Mosaic variegated aneuploidy syndrome 2 | Autosomal recessive | General population | ≤1 in 500 | <1 in 750 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 3001 | <1 in 2000 | <1 in 3001 | 1 in 4 |

CEP78 | Cone-rod dystrophy and hearing loss | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |

CEP83 | Nephronophthisis 18 | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |

CERKL | Retinitis pigmentosa, type 26 | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish Sephardic Jewish | 1 in 370 1 in 963 1 in 547 1 in 416 1 in 602 <1 in 500 1 in 24 | 1 in 515 1 in 1341 1 in 762 1 in 579 1 in 839 1 in 163600 1 in 800 | 1 in 762147 <1 in 1,000,000 <1 in 1,000,000 1 in 964169 <1 in 1,000,000 <1 in 1,000,000 1 in 76800 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 2060 1 in 5365 1 in 3048 1 in 2318 1 in 3354 1 in 654400 1 in 3200 | 1 in 1480 1 in 3852 1 in 2188 1 in 1664 1 in 2408 1 in 19632 1 in 96 | 1 in 2060 1 in 5365 1 in 3048 1 in 2318 1 in 3354 1 in 654400 1 in 3200 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

CERS3 | Ichthyosis, congenital, autosomal recessive 9 | Autosomal recessive | Caucasian/European population | 1 in 6225 | Reduced | Reduced | Reduced | Reduced | 1 in 24900 | Reduced | 1 in 4 |

CFAP298 | Ciliary dyskinesia, primary, 26 | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |

CFAP410 | Axial spondylometaphyseal dysplasia; Retinal dystrophy with macular staphyloma | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |

CFAP43 | Spermatogenic failure 19 | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |

CFAP53 | Heterotaxy, visceral, 6, autosomal recessive | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |

CFD | Complement factor D deficiency | Autosomal recessive | General population | ≤1 in 500 | <1 in 1000 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 4000 | <1 in 2000 | <1 in 4000 | 1 in 4 |

CFH | Complement factor H deficiency | Autosomal recessive | General population | ≤1 in 500 | <1 in 700 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 2801 | <1 in 2000 | <1 in 2801 | 1 in 4 |

CFI | Complement factor I deficiency | Autosomal recessive | General population | ≤1 in 500 | <1 in 612 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 2446 | <1 in 2000 | <1 in 2446 | 1 in 4 |

CFL2 | Nemaline myopathy, type 7, autosomal recessive | Autosomal recessive | General population | ≤1 in 500 | <1 in 750 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 3001 | <1 in 2000 | <1 in 3001 | 1 in 4 |

CFP | Properdin deficiency, X-linked | X-linked | General population | ≤1 in 500 | <1 in 750000 | <1 in 1,000,000 | - | - | 1 in 4 | - | - |

CFTR | Cystic fibrosis | Autosomal recessive | Caucasian/European African/African American Asian Latino Ashkenazi Jewish | 1 in 26 1 in 61 1 in 94 1 in 58 1 in 24 | 1 in 246 1 in 610 1 in 940 1 in 580 1 in 169 | 1 in 25112 1 in 148840 1 in 353440 1 in 134560 1 in 16255 | 1 in 242265 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 114684 | 1 in 984 1 in 2440 1 in 3760 1 in 2320 1 in 677 | 1 in 102 1 in 244 1 in 376 1 in 232 1 in 96 | 1 in 984 1 in 2440 1 in 3760 1 in 2320 1 in 677 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

CHAT | Myasthenic syndrome, congenital, type 6, presynaptic | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 121 1 in 209 1 in 318 1 in 321 1 in 30 | 1 in 134 1 in 231 1 in 351 1 in 355 1 in 33 | 1 in 64678 1 in 193116 1 in 447075 1 in 455550 1 in 3979 | 1 in 71430 1 in 213444 1 in 494135 1 in 503502 1 in 4398 | 1 in 535 1 in 924 1 in 1406 1 in 1419 1 in 133 | 1 in 484 1 in 836 1 in 1272 1 in 1284 1 in 120 | 1 in 535 1 in 924 1 in 1406 1 in 1419 1 in 133 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

CHKB | Muscular dystrophy, congenital, megaconial type | Autosomal recessive | General population | ≤1 in 500 | <1 in 1300 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 5199 | <1 in 2000 | <1 in 5199 | 1 in 4 |

CHM | Choroideremia | X-linked | General African/African American East Asian South Asian Latino | 1 in 33,334 1 in 25000 N/A N/A 1 in 25000 | 1 in 64,000 1 in 48000 N/A N/A 1 in 48000 | 1 in 256001 1 in 192000 N/A N/A 1 in 192000 | - - - - - | - - - - - | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 | - - - - - | - - - - - |

CHMP1A | Pontocerebellar hypoplasia, type 8 | Autosomal recessive | Caucasian/European population | 1 in 717 | Reduced | Reduced | Reduced | Reduced | 1 in 2868 | Reduced | 1 in 4 |

CHRDL1 | Megalocornea 1, X-linked | X-linked | General population | ≤1 in 500 | <1 in 3999997 | <1 in 1,000,000 | - | - | 1 in 4 | - | - |

CHRNA1 | Multiple pterygium syndrome, lethal type | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |

CHRNB1 | ?Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |

CHRND | Myasthenic syndrome, congenital, type 3B, fast-channel; Multiple pterygium syndrome, lethal type | Autosomal recessive | General population | <1 in 500 | <1 in 1187 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 4749 | <1 in 2000 | <1 in 4749 | 1 in 4 |

CHRNE | Myasthenic syndrome, congenital, type 4B, fast-channel; Myasthenic syndrome, congenital, type 4C, associated with acetylcholine receptor deficiency | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 244 1 in 300 1 in 299 1 in 312 1 in 366 | 1 in 491 1 in 605 1 in 603 1 in 629 1 in 738 | 1 in 479465 1 in 726304 1 in 721470 1 in 785570 <1 in 1,000,000 | 1 in 965326 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 1965 1 in 2421 1 in 2413 1 in 2518 1 in 2954 | 1 in 976 1 in 1200 1 in 1196 1 in 1248 1 in 1464 | 1 in 1965 1 in 2421 1 in 2413 1 in 2518 1 in 2954 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

CHRNG | Multiple pterygium syndrome (MPS), Escobar type; MPS, lethal type | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 400 1 in 546 1 in 529 1 in 384 1 in 371 | 1 in 1,597 1 in 2184 1 in 2116 1 in 1536 1 in 1484 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 6388 1 in 8736 1 in 8464 1 in 6144 1 in 5936 | 1 in 1600 1 in 2184 1 in 2116 1 in 1536 1 in 1484 | 1 in 6388 1 in 8736 1 in 8464 1 in 6144 1 in 5936 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

CHST14 | Ehlers-Danlos syndrome, musculocontractural, type 1 | Autosomal recessive | General population | ≤1 in 500 | <1 in 625 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 2502 | <1 in 2000 | <1 in 2502 | 1 in 4 |

CHST3 | Spondyloepiphyseal dysplasia with congenital joint dislocations | Autosomal recessive | General population | ≤1 in 500 | <1 in 1250 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 4999 | <1 in 2000 | <1 in 4999 | 1 in 4 |

CHST6 | Macular corneal dystrophy | Autosomal recessive | General African/African American East Asian South Asian Latino | 1 in 80 N/A N/A N/A N/A | 1 in 394 N/A N/A N/A N/A | 1 in 125725 N/A N/A N/A N/A | 1 in 622315 N/A N/A N/A N/A | 1 in 1578 N/A N/A N/A N/A | 1 in 319 N/A N/A N/A N/A | 1 in 1578 N/A N/A N/A N/A | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

CHSY1 | Temtamy preaxial brachydactyly syndrome | Autosomal recessive | General population | ≤1 in 500 | <1 in 834 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 3334 | <1 in 2000 | <1 in 3334 | 1 in 4 |

CHUK | Cocoon syndrome | Autosomal recessive | General population | ≤1 in 500 | <1 in 49951 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 199804 | <1 in 2000 | <1 in 199804 | 1 in 4 |

CIB2 | Deafness, autosomal recessive, type 48; Usher syndrome, type 1J | Autosomal recessive | Caucasian/European population | 1 in 1059 | 1 in 2470 | <1 in 1,000,000 | <1 in 1,000,000 | 1 in 9879 | 1 in 4236 | 1 in 9879 | 1 in 4 |

CIITA | Bare lymphocyte syndrome, type 2, complementation group A | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 924 1 in 2879 1 in 1002 1 in 2185 1 in 1322 | 1 in 1,501 1 in 4678 1 in 1628 1 in 3551 1 in 2148 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 6004 1 in 18714 1 in 6513 1 in 14203 1 in 8593 | 1 in 3696 1 in 11516 1 in 4008 1 in 8740 1 in 5288 | 1 in 6004 1 in 18714 1 in 6513 1 in 14203 1 in 8593 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

CILK1 | Endocrine-cerebroosteodysplasia | Autosomal recessive | General population | ≤1 in 500 | <1 in 1000 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 4000 | <1 in 2000 | <1 in 4000 | 1 in 4 |

CISD2 | Wolfram syndrome 2 | Autosomal recessive | General population | ≤1 in 500 | <1 in 1000 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 4000 | <1 in 2000 | <1 in 4000 | 1 in 4 |

CIT | Microcephaly 17, primary, autosomal recessive | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |

CKAP2L | Filippi syndrome | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |

CLCF1 | Cold-induced sweating syndrome 2 | Autosomal recessive | Caucasian/European population | 1 in 18716 | 1 in 37431 | <1 in 1,000,000 | <1 in 1,000,000 | 1 in 149724 | 1 in 74864 | 1 in 149724 | 1 in 4 |

CLCN1 | Myotonia congenita, recessive | Autosomal recessive | General African/African American East Asian South Asian Latino | 1 in 159 N/A N/A N/A N/A | 1 in 319 N/A N/A N/A N/A | 1 in 202214 N/A N/A N/A N/A | 1 in 406323 N/A N/A N/A N/A | 1 in 1275 N/A N/A N/A N/A | 1 in 634 N/A N/A N/A N/A | 1 in 1275 N/A N/A N/A N/A | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

CLCN2 | Leukoencephalopathy with ataxia | Autosomal recessive | General population | ≤1 in 500 | <1 in 1250 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 4999 | <1 in 2000 | <1 in 4999 | 1 in 4 |

CLCN4 | Mental retardation, X-linked 49 | X-linked | General population | ≤1 in 500 | Reduced | Reduced | - | - | 1 in 4 | - | - |

CLCN5 | Dent disease; Hypophosphatemic rickets | X-linked | General population | ≤1 in 500 | <1 in 1000000 | <1 in 1,000,000 | - | - | 1 in 4 | - | - |

CLCN7 | Osteopetrosis, autosomal recessive type 4 | Autosomal recessive | General population | ≤1 in 500 | <1 in 532 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 2127 | <1 in 2000 | <1 in 2127 | 1 in 4 |

CLCNKA | Bartter syndrome, type 4B, digenic | Digenic inheritance (CLCNKB gene) | Caucasian/European population | 1 in 170 | 1 in 508 | 1 in 345440 | <1 in 1,000,000 | 1 in 2032 | 1 in 680 | 1 in 2032 | 1 in 4 |

CLCNKB | Bartter syndrome, type 3; Bartter syndrome, type 4B, digenic | Autosomal recessive; Digenic inheritance (CLCNKA gene) | Caucasian/European population | 1 in 260 | 1 in 482 | 1 in 501280 | 1 in 929296 | 1 in 1928 | 1 in 1040 | 1 in 1928 | 1 in 4 |

CLDN1 | Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis | Autosomal recessive | General population | ≤1 in 500 | <1 in 1500 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 5998 | <1 in 2000 | <1 in 5998 | 1 in 4 |

CLDN10 | HELIX syndrome | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |

CLDN14 | Deafness type 29, autosomal recessive | Autosomal recessive | General population | ≤1 in 500 | <1 in 1000 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 4000 | <1 in 2000 | <1 in 4000 | 1 in 4 |

CLDN16 | Hypomagnesemia, type 3, renal | Autosomal recessive | General population | ≤1 in 500 | <1 in 647 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 2590 | <1 in 2000 | <1 in 2590 | 1 in 4 |

CLDN19 | Rena hypomagnesemia type 5, with ocular involvement | Autosomal recessive | General population | ≤1 in 500 | <1 in 1167 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 4666 | <1 in 2000 | <1 in 4666 | 1 in 4 |

CLEC7A | Candidiasis, familial, 4, autosomal recessive | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |

CLMP | Congenital short bowel syndrome | Autosomal recessive | General population | ≤1 in 500 | <1 in 2499 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 9994 | <1 in 2000 | <1 in 9994 | 1 in 4 |

CLN3 | Ceroid lipofuscinosis, neuronal, type 3 | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 242 1 in 1697 1 in 589 1 in 2552 1 in 1538 | 1 in 2,090 1 in 14707 1 in 5105 1 in 22117 1 in 13329 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 8359 1 in 58829 1 in 20419 1 in 88469 1 in 53317 | 1 in 968 1 in 6788 1 in 2356 1 in 10208 1 in 6152 | 1 in 8359 1 in 58829 1 in 20419 1 in 88469 1 in 53317 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

CLN5 | Ceroid lipofuscinosis, neuronal, type 5 | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 762 1 in 1473 1 in 748 1 in 4827 1 in 794 | 1 in 3,299 1 in 6383 1 in 3241 1 in 20917 1 in 3441 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 13195 1 in 25532 1 in 12965 1 in 83668 1 in 13763 | 1 in 3048 1 in 5892 1 in 2992 1 in 19308 1 in 3176 | 1 in 13195 1 in 25532 1 in 12965 1 in 83668 1 in 13763 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

CLN6 | Ceroid lipofuscinosis, neuronal, type 6 | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 977 1 in 1528 1 in 909 1 in 733 1 in 698 | 1 in 2,840 1 in 4445 1 in 2644 1 in 2132 1 in 2031 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 11361 1 in 17780 1 in 10577 1 in 8529 1 in 8122 | 1 in 3908 1 in 6112 1 in 3636 1 in 2932 1 in 2792 | 1 in 11361 1 in 17780 1 in 10577 1 in 8529 1 in 8122 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

CLN8 | Ceroid lipofuscinosis, neuronal, type 8 | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 1,250 1 in 1107 1 in 1725 1 in 1924 1 in 3358 | 1 in 2,276 1 in 2016 1 in 3142 1 in 3504 1 in 6116 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 9104 1 in 8065 1 in 12568 1 in 14018 1 in 24465 | 1 in 5000 1 in 4428 1 in 6900 1 in 7696 1 in 13432 | 1 in 9104 1 in 8065 1 in 12568 1 in 14018 1 in 24465 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

CLP1 | Pontocerebellar hypoplasia, type 10 | Autosomal recessive | Caucasian/European population | 1 in 2855 | Reduced | Reduced | Reduced | Reduced | 1 in 11420 | Reduced | 1 in 4 |

CLPB | 3-methylglutaconic aciduria, type 7, with cataracts, neurologic involvement and neutropenia | autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |

CLPP | Perrault syndrome 3 | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |

CLRN1 | Usher syndrome, type 3A | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish | 1 in 420 1 in 632 1 in 1263 N/A 1 in 1889 1 in 132 | 1 in 577 1 in 869 1 in 1737 N/A 1 in 2597 1 in 3771 | 1 in 969570 <1 in 1,000,000 <1 in 1,000,000 N/A <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 N/A <1 in 1,000,000 <1 in 1,000,000 | 1 in 2309 1 in 3476 1 in 6947 N/A 1 in 10390 1 in 15084 | 1 in 1680 1 in 2528 1 in 5052 N/A 1 in 7556 1 in 453 | 1 in 2309 1 in 3476 1 in 6947 N/A 1 in 10390 1 in 15084 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

CNGA1 | Retinitis pigmentosa type 49 | Autosomal recessive | General African/African American East Asian South Asian Latino | 1 in 625 N/A N/A N/A N/A | 1 in 1,171 N/A N/A N/A N/A | <1 in 1,000,000 N/A N/A N/A N/A | <1 in 1,000,000 N/A N/A N/A N/A | 1 in 4684 N/A N/A N/A N/A | 1 in 2500 N/A N/A N/A N/A | 1 in 4684 N/A N/A N/A N/A | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

CNGA3 | Achromatopsia, type 2 | Autosomal recessive | General population | ≤1 in 500 | <1 in 790 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 3159 | <1 in 2000 | <1 in 3159 | 1 in 4 |

CNGB1 | Retinitis pigmentosa type 45 | Autosomal recessive | General African/African American East Asian South Asian Latino | 1 in 867 N/A N/A N/A N/A | 1 in 1,614 N/A N/A N/A N/A | <1 in 1,000,000 N/A N/A N/A N/A | <1 in 1,000,000 N/A N/A N/A N/A | 1 in 6454 N/A N/A N/A N/A | 1 in 3468 N/A N/A N/A N/A | 1 in 6454 N/A N/A N/A N/A | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

CNGB3 | Achromatopsia, type 3 | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 87 1 in 50 1 in 208 1 in 18 1 in 90 | 1 in 1,363 1 in 792 1 in 3293 1 in 285 1 in 1425 | 1 in 474208 1 in 158333 <1 in 1,000,000 1 in 20520 1 in 513000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 324900 <1 in 1,000,000 | 1 in 5451 1 in 3167 1 in 13173 1 in 1140 1 in 5700 | 1 in 348 1 in 200 1 in 832 1 in 72 1 in 360 | 1 in 5451 1 in 3167 1 in 13173 1 in 1140 1 in 5700 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

CNKSR2 | Mental retardation, X-linked, syndromic, Houge type | X-linked | General population | ≤1 in 500 | <1 in 1200000 | <1 in 1,000,000 | - | - | 1 in 4 | - | - |

CNNM2 | Hypomagnesemia, seizures, and mental retardation | Autosomal recessive* | General population | ≤1 in 500 | <1 in 1000 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 4000 | <1 in 2000 | <1 in 4000 | 1 in 4 |

CNNM4 | Jalili syndrome | Autosomal recessive | General population | ≤1 in 500 | <1 in 1143 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 4571 | <1 in 2000 | <1 in 4571 | 1 in 4 |

CNPY3 | Epileptic encephalopathy, early infantile, type 60 | Autosomal recessive | General population | ≤1 in 500 | <1 in 625 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 2502 | <1 in 2000 | <1 in 2502 | 1 in 4 |

CNTNAP1 | Lethal congenital contracture syndrome 7 | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |

CNTNAP2 | Pitt-Hopkins like syndrome 1 | Autosomal recessive | Caucasian/European population | 1 in 314 | 1 in 542 | 1 in 680295 | <1 in 1,000,000 | 1 in 2167 | 1 in 1256 | 1 in 2167 | 1 in 4 |

COA6 | Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4 | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |

COA8 | Mitochondrial complex IV deficiency | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |

COASY | Neurodegeneration with brain iron accumulation 6 | Autosomal recessive | Caucasian/European population | 1 in 383 | Reduced | Reduced | Reduced | Reduced | 1 in 1532 | Reduced | 1 in 4 |

COG1 | Congenital disorder of glycosylation, type IIg | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |

COG4 | Congenital disorder of glycosylation, type 2J | Autosomal recessive | General population | <1 in 500 | <1 in 682 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 2729 | <1 in 2000 | <1 in 2729 | 1 in 4 |

COG5 | Congenital disorder of glycosylation, type 2I | Autosomal recessive | General population | <1 in 500 | <1 in 563 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 2252 | <1 in 2000 | <1 in 2252 | 1 in 4 |

COG6 | Congenital disorder of glycosylation, type 2L; Shaheen syndrome | Autosomal recessive | General population | <1 in 500 | <1 in 637 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 2547 | <1 in 2000 | <1 in 2547 | 1 in 4 |

COG7 | Congenital disorder of glycosylation, type 2E | Autosomal recessive | General population | <1 in 500 | <1 in 800 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 3201 | <1 in 2000 | <1 in 3201 | 1 in 4 |

COG8 | Congenital disorder of glycosylation, type 2H | Autosomal recessive | General population | <1 in 500 | <1 in 800 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 3201 | <1 in 2000 | <1 in 3201 | 1 in 4 |

COL11A1 | Fibrochondrogenesis type 1 | Autosomal recessive | General population | ≤1 in 500 | <1 in 525 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 2102 | <1 in 2000 | <1 in 2102 | 1 in 4 |

COL11A2 | Otospondylomegaepiphyseal dysplasia, autosomal recessive | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |

COL13A1 | Myasthenic syndrome, congenital, 19 | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |

COL17A1 | Epidermolysis bullosa, junctional, non-Herlitz type | Autosomal recessive | General population | ≤1 in 500 | <1 in 2998 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 11992 | <1 in 2000 | <1 in 11992 | 1 in 4 |

COL18A1 | Knobloch syndrome, type 1 | Autosomal recessive | General population | ≤1 in 500 | <1 in 850 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 3401 | <1 in 2000 | <1 in 3401 | 1 in 4 |

COL1A2 | Ehlers-Danlos syndrome, cardiac valvular type | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |

COL25A1 | Fibrosis of extraocular muscles, congenital, type 5 | Autosomal recessive | General population | ≤1 in 500 | <1 in 1000 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 4000 | <1 in 2000 | <1 in 4000 | 1 in 4 |

COL27A1 | Steel syndrome | Autosomal recessive | General African/African American East Asian South Asian Latino | 1 in 500 N/A N/A N/A 1 in 40 | N/A N/A N/A N/A N/A | N/A N/A N/A N/A N/A | N/A N/A N/A N/A N/A | N/A N/A N/A N/A N/A | 1 in 2000 N/A N/A N/A 1 in 160 | N/A N/A N/A N/A N/A | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

COL4A3 | Alport syndrome, autosomal recessive, type 2 | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish | 1 in 218 1 in 329 1 in 241 1 in 361 1 in 195 1 in 190 | 1 in 352 1 in 532 1 in 390 1 in 584 1 in 315 1 in 6333 | 1 in 306801 1 in 699996 1 in 375611 1 in 842788 1 in 245908 <1 in 1,000,000 | 1 in 495153 <1 in 1,000,000 1 in 607270 <1 in 1,000,000 1 in 397573 <1 in 1,000,000 | 1 in 1407 1 in 2128 1 in 1559 1 in 2335 1 in 1261 1 in 25331 | 1 in 872 1 in 1316 1 in 964 1 in 1444 1 in 780 1 in 760 | 1 in 1407 1 in 2128 1 in 1559 1 in 2335 1 in 1261 1 in 25331 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

COL4A4 | Alport syndrome, autosomal recessive, type 2 | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 349 1 in 369 1 in 158 1 in 415 1 in 359 | 1 in 565 1 in 598 1 in 256 1 in 673 1 in 582 | 1 in 788969 1 in 882955 1 in 161883 <1 in 1,000,000 1 in 835747 | <1 in 1,000,000 <1 in 1,000,000 1 in 262438 <1 in 1,000,000 <1 in 1,000,000 | 1 in 2261 1 in 2393 1 in 1025 1 in 2691 1 in 2328 | 1 in 1396 1 in 1476 1 in 632 1 in 1660 1 in 1436 | 1 in 2261 1 in 2393 1 in 1025 1 in 2691 1 in 2328 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

COL4A5 | Alport syndrome, X-linked | X-linked | General African/African American East Asian South Asian Latino | 1 in 34,622 N/A N/A N/A N/A | 1 in 72,761 N/A N/A N/A N/A | 1 in 291042 N/A N/A N/A N/A | - - - - - | - - - - - | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 | - - - - - | - - - - - |

COL4A6 | ?Deafness, X-linked 6 | X-linked | General population | ≤1 in 500 | Reduced | Reduced | - | - | 1 in 4 | - | - |

COL6A1 | Ullrich congenital muscular dystrophy, type 1 (Limb-girdle muscular dystrophy, type 22 [LGMD R22]) | Autosomal recessive* | General population | ≤1 in 500 | <1 in 826 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 3304 | <1 in 2000 | <1 in 3304 | 1 in 4 |

COL6A2 | Ullrich congenital muscular dystrophy, type 1 (Limb-girdle muscular dystrophy, type 22 [LGMD R22]) | Autosomal recessive* | General population | ≤1 in 500 | <1 in 1106 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 4423 | <1 in 2000 | <1 in 4423 | 1 in 4 |

COL6A3 | Ullrich congenital muscular dystrophy, type 1 (Limb-girdle muscular dystrophy, type 22 [LGMD R22]) | Autosomal recessive* | General population | ≤1 in 500 | <1 in 1264 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 5058 | <1 in 2000 | <1 in 5058 | 1 in 4 |

COL7A1 | Dystrophic epidermolysis bullosa (DEB), Hallopeau-Siemens (HS) type and non-HS type; DEB pruriginosa; DEB pretibial | Autosomal recessive; Autosomal recessive*; Autosomal recessive* | Caucasian/European African/African American East Asian South Asian Latino | 1 in 100 1 in 199 1 in 262 1 in 95 1 in 190 | 1 in 243 1 in 487 1 in 641 1 in 232 1 in 465 | 1 in 97259 1 in 387448 1 in 671598 1 in 88299 1 in 353195 | 1 in 236485 1 in 947676 <1 in 1,000,000 1 in 215974 1 in 863895 | 1 in 973 1 in 1947 1 in 2563 1 in 929 1 in 1859 | 1 in 400 1 in 796 1 in 1048 1 in 380 1 in 760 | 1 in 973 1 in 1947 1 in 2563 1 in 929 1 in 1859 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

COL9A1 | Stickler syndrome, type 4 | Autosomal recessive | General population | ≤1 in 500 | <1 in 1000 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 4000 | <1 in 2000 | <1 in 4000 | 1 in 4 |

COL9A2 | ?Stickler syndrome, type V | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |

COLEC10 | 3MC syndrome 3 | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |

COLEC11 | 3MC syndrome 2 | Autosomal recessive | General population | ≤1 in 500 | <1 in 1500 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 5998 | <1 in 2000 | <1 in 5998 | 1 in 4 |

COLQ | Myasthenic syndrome, congenital, type 5 | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 805 1 in 674 1 in 653 1 in 992 1 in 1494 | 1 in 1,420 1 in 1189 1 in 1152 1 in 1751 1 in 2636 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 5679 1 in 4758 1 in 4609 1 in 7002 1 in 10546 | 1 in 3220 1 in 2696 1 in 2612 1 in 3968 1 in 5976 | 1 in 5679 1 in 4758 1 in 4609 1 in 7002 1 in 10546 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

COQ2 | Primary coenzyme Q10 deficiency, type 1 | Autosomal recessive | General population | ≤1 in 500 | <1 in 1000 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 4000 | <1 in 2000 | <1 in 4000 | 1 in 4 |

COQ4 | Coenzyme Q10 deficiency, primary, type 7 | Autosomal recessive | General population | ≤1 in 500 | <1 in 682 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 2729 | <1 in 2000 | <1 in 2729 | 1 in 4 |

COQ6 | Coenzyme Q10 deficiency, primary, type 6 | Autosomal recessive | General population | ≤1 in 500 | <1 in 1300 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 5199 | <1 in 2000 | <1 in 5199 | 1 in 4 |

COQ8A | Primary coenzyme Q10 deficiency, type 4 | Autosomal recessive | General population | ≤1 in 500 | <1 in 743 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 2972 | <1 in 2000 | <1 in 2972 | 1 in 4 |

COQ8B | Nephrotic syndrome, type 9 | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |

COQ9 | Coenzyme Q10 deficiency, primary, type 5 | Autosomal recessive | General population | ≤1 in 500 | <1 in 1000 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 4000 | <1 in 2000 | <1 in 4000 | 1 in 4 |

CORO1A | Immunodeficiency, type 8 | Autosomal recessive | Caucasian/European population | 1 in 4038 | 1 in 16149 | <1 in 1,000,000 | <1 in 1,000,000 | 1 in 64596 | 1 in 16152 | 1 in 64596 | 1 in 4 |

COX10 | Mitochondrial complex IV deficiency; Leigh syndrome due to mitochondrial COX4 deficiency | Autosomal recessive | General population | ≤1 in 500 | <1 in 800 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 3201 | <1 in 2000 | <1 in 3201 | 1 in 4 |

COX15 | Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency, type 2; Leigh syndrome due to cytochrome c oxidase deficiency | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 480 1 in 719 1 in 1839 1 in 159 1 in 887 | 1 in 640 1 in 959 1 in 2452 1 in 212 1 in 1183 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 134832 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 179776 <1 in 1,000,000 | 1 in 2559 1 in 3835 1 in 9808 1 in 848 1 in 4731 | 1 in 1920 1 in 2876 1 in 7356 1 in 636 1 in 3548 | 1 in 2559 1 in 3835 1 in 9808 1 in 848 1 in 4731 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

COX20 | Mitochondrial complex IV deficiency | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |

COX4I2 | Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |

COX6A1 | Charcot-Marie-Tooth disease, recessive intermediate D | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |

COX6B1 | Mitochondrial complex IV deficiency | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |

COX7B | Linear skin defects with multiple congenital anomalies, type 2 | X-linked | General population | ≤1 in 500 | Reduced | Reduced | - | - | 1 in 4 | - | - |

CP | Aceruloplasminemia | Autosomal recessive | Caucasian/European population | 1 in 497 | 1 in 1737 | <1 in 1,000,000 | <1 in 1,000,000 | 1 in 6948 | 1 in 1988 | 1 in 6948 | 1 in 4 |

CPA6 | Febrile seizures, familial, type 11 | Autosomal recessive | General population | ≤1 in 500 | <1 in 49951 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 199804 | <1 in 2000 | <1 in 199804 | 1 in 4 |

CPAMD8 | Anterior segment dysgenesis 8 | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |

CPLANE1 | Joubert syndrome 17 | Autosomal recessive | Caucasian/European population | 1 in 50 | Reduced | Reduced | Reduced | Reduced | 1 in 200 | Reduced | 1 in 4 |

CPLX1 | Epileptic encephalopathy, early infantile, 63 | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |

CPN1 | Carboxypeptidase N deficiency | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |

CPS1 | Carbamoylphosphate synthetase 1 deficiency | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 343 1 in 401 1 in 221 1 in 1026 1 in 740 | 1 in 817 1 in 957 1 in 528 1 in 2449 1 in 1766 | <1 in 1,000,000 <1 in 1,000,000 1 in 466353 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 3270 1 in 3829 1 in 2110 1 in 9797 1 in 7066 | 1 in 1372 1 in 1604 1 in 884 1 in 4104 1 in 2960 | 1 in 3270 1 in 3829 1 in 2110 1 in 9797 1 in 7066 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

CPT1A | Carnitine palmitoyltransferase type 1A deficiency, hepatic | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 1,518 1 in 2550 1 in 1435 1 in 1924 1 in 2821 | 1 in 6,638 1 in 11156 1 in 6278 1 in 8418 1 in 12342 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 26552 1 in 44625 1 in 25113 1 in 33670 1 in 49368 | 1 in 6072 1 in 10200 1 in 5740 1 in 7696 1 in 11284 | 1 in 26552 1 in 44625 1 in 25113 1 in 33670 1 in 49368 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

CPT2 | Carnitine palmitoyltransferase type 2 deficiency, lethal neonatal; Carnitine palmitoyltransferase type 2 deficiency, infantile | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish | 1 in 147 1 in 197 1 in 266 1 in 523 1 in 251 1 in 47 | 1 in 682 1 in 919 1 in 1241 1 in 2439 1 in 1171 1 in 1594 | 1 in 400955 1 in 723971 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 304805 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 2728 1 in 3675 1 in 4962 1 in 9756 1 in 4682 1 in 6375 | 1 in 588 1 in 788 1 in 1064 1 in 2092 1 in 1004 1 in 191 | 1 in 2728 1 in 3675 1 in 4962 1 in 9756 1 in 4682 1 in 6375 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

CR2 | Immunodeficiency, common variable, type 7 | Autosomal recessive | General population | ≤1 in 500 | <1 in 1500 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 5998 | <1 in 2000 | <1 in 5998 | 1 in 4 |

CRADD | Mental retardation, autosomal recessive, type 34, with variant lissencephaly | Autosomal recessive | General population | ≤1 in 500 | <1 in 1000 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 4000 | <1 in 2000 | <1 in 4000 | 1 in 4 |

CRB1 | Retinitis pigmentosa, type 12; Leber congenital amaurosis, type 8 | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 158 1 in 116 1 in 187 1 in 531 1 in 263 | 1 in 203 1 in 149 1 in 241 1 in 684 1 in 339 | 1 in 128433 1 in 69325 1 in 180160 <1 in 1,000,000 1 in 356359 | 1 in 165187 1 in 89291 1 in 232046 <1 in 1,000,000 1 in 458990 | 1 in 813 1 in 598 1 in 963 1 in 2736 1 in 1355 | 1 in 632 1 in 464 1 in 748 1 in 2124 1 in 1052 | 1 in 813 1 in 598 1 in 963 1 in 2736 1 in 1355 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

CRB2 | Ventriculomegaly with cystic kidney disease | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |

CRBN | Mental retardation, autosomal recessive, type 2 | Autosomal recessive | General population | ≤1 in 500 | <1 in 1500 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 5998 | <1 in 2000 | <1 in 5998 | 1 in 4 |

CRIPT | Short stature with microcephaly and distinctive facies | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |

CRLF1 | Cold-induced sweating syndrome type 1 | Autosomal recessive | Caucasian/European population | 1 in 1151 | 1 in 115001 | <1 in 1,000,000 | <1 in 1,000,000 | 1 in 460004 | 1 in 4604 | 1 in 460004 | 1 in 4 |

CRPPA | Muscular dystrophy-dystroglycanopathy, type A7; Muscular dystrophy-dystroglycanopathy, type C7 | Autosomal recessive | General population | ≤1 in 500 | <1 in 1071 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 4285 | <1 in 2000 | <1 in 4285 | 1 in 4 |

CRTAP | Osteogenesis imperfecta, type 7 | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 1,416 1 in 546 1 in 1377 1 in 1059 1 in 1122 | 1 in 3,539 1 in 1365 1 in 3443 1 in 2648 1 in 2805 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 14154 1 in 5460 1 in 13770 1 in 10590 1 in 11220 | 1 in 5664 1 in 2184 1 in 5508 1 in 4236 1 in 4488 | 1 in 14154 1 in 5460 1 in 13770 1 in 10590 1 in 11220 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

CRYAA | Cataract 9, multiple types | Autosomal recessive* | General population | ≤1 in 500 | <1 in 5995 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 23980 | <1 in 2000 | <1 in 23980 | 1 in 4 |

CRYAB | Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related; Cataract 16, multiple types | Autosomal recessive; Autosomal recessive* | General population | ≤1 in 500 | <1 in 1749 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 6997 | <1 in 2000 | <1 in 6997 | 1 in 4 |

CRYBB1 | Cataract 17 | Autosomal recessive* | General population | ≤1 in 500 | <1 in 2998 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 11992 | <1 in 2000 | <1 in 11992 | 1 in 4 |

CRYBB3 | Cataract 22 | Autosomal recessive | General population | ≤1 in 500 | <1 in 49951 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 199804 | <1 in 2000 | <1 in 199804 | 1 in 4 |

CSF2RA | Surfactant metabolism dysfunction, pulmonary, type 4 | X-linked | General population | ≤1 in 500 | Reduced | Reduced | - | - | 1 in 4 | - | - |

CSF2RB | Surfactant metabolism dysfunction, pulmonary, type 5 | Autosomal recessive | General population | ≤1 in 500 | <1 in 49951 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 199804 | <1 in 2000 | <1 in 199804 | 1 in 4 |

CSF3R | Neutropenia, severe congenital, type 7, autosomal recessive | Autosomal recessive | General population | ≤1 in 500 | <1 in 637 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 2547 | <1 in 2000 | <1 in 2547 | 1 in 4 |

CSPP1 | Joubert syndrome 21 | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |

CSTA | Peeling skin syndrome, type 4 | Autosomal recessive | General population | ≤1 in 500 | <1 in 625 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 2502 | <1 in 2000 | <1 in 2502 | 1 in 4 |

CSTB | Epilepsy, progressive myoclonic type 1A (Unverricht and Lundborg) | Autosomal recessive | General population | ≤1 in 500 | <1 in 900 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 3600 | <1 in 2000 | <1 in 3600 | 1 in 4 |

CTC1 | Cerebroretinal microangiopathy with calcifications and cysts | Autosomal recessive | Caucasian/European population | 1 in 256 | 1 in 354 | 1 in 362575 | 1 in 501482 | 1 in 1416 | 1 in 1024 | 1 in 1416 | 1 in 4 |

CTDP1 | Congenital cataracts, facial dysmorphism, and neuropathy | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |

CTH | Cystathioninuria | Autosomal recessive | General African/African American East Asian South Asian Latino | 1 in 80 N/A N/A N/A N/A | 1 in 7,870 N/A N/A N/A N/A | <1 in 1,000,000 N/A N/A N/A N/A | <1 in 1,000,000 N/A N/A N/A N/A | 1 in 31479 N/A N/A N/A N/A | 1 in 319 N/A N/A N/A N/A | 1 in 31479 N/A N/A N/A N/A | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

CTNS | Nephropathic cystinosis | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish Sephardic Jewish | 1 in 249 1 in 942 1 in 393 1 in 1026 1 in 1696 N/A 1 in 100 | 1 in 900 1 in 3415 1 in 1425 1 in 3719 1 in 6148 N/A 1 in 1000 | 1 in 896400 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 N/A 1 in 400000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 N/A <1 in 1,000,000 | 1 in 3600 1 in 13659 1 in 5699 1 in 14877 1 in 24592 N/A 1 in 4000 | 1 in 996 1 in 3768 1 in 1572 1 in 4104 1 in 6784 N/A 1 in 400 | 1 in 3600 1 in 13659 1 in 5699 1 in 14877 1 in 24592 N/A 1 in 4000 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

CTPS1 | Immunodeficiency 24 | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |

CTSA | Galactosialidosis | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 64 1 in 248 1 in 2686 1 in 310 1 in 127 | 1 in 118 1 in 461 1 in 4988 1 in 576 1 in 236 | 1 in 30208 1 in 456887 <1 in 1,000,000 1 in 713886 1 in 119815 | 1 in 55696 1 in 848504 <1 in 1,000,000 <1 in 1,000,000 1 in 222514 | 1 in 472 1 in 1842 1 in 19953 1 in 2303 1 in 943 | 1 in 256 1 in 992 1 in 10744 1 in 1240 1 in 508 | 1 in 472 1 in 1842 1 in 19953 1 in 2303 1 in 943 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

CTSC | Haim-Munk syndrome; Papillon-Lefevre syndrome | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 500 1 in 500 N/A N/A 1 in 500 | 1 in 2,496 1 in 2500 N/A N/A 1 in 2500 | <1 in 1,000,000 <1 in 1,000,000 N/A N/A <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 N/A N/A <1 in 1,000,000 | 1 in 9984 1 in 10000 N/A N/A 1 in 10000 | 1 in 2000 1 in 2000 N/A N/A 1 in 2000 | 1 in 9984 1 in 10000 N/A N/A 1 in 10000 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

CTSD | Ceroid lipofuscinosis, neuronal, type 10 | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 1,003 1 in 1591 1 in 9179 1 in 1912 1 in 1160 | 1 in 4,510 1 in 7160 1 in 41306 1 in 8604 1 in 5220 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 18040 1 in 28638 1 in 165222 1 in 34416 1 in 20880 | 1 in 4012 1 in 6364 1 in 36716 1 in 7648 1 in 4640 | 1 in 18040 1 in 28638 1 in 165222 1 in 34416 1 in 20880 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

CTSF | Ceroid lipofuscinosis, neuronal, 13, Kufs type | Autosomal recessive | Caucasian/European population | 1 in 1773 | Reduced | Reduced | Reduced | Reduced | 1 in 7092 | Reduced | 1 in 4 |

CTSK | Pycnodysostosis | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 1,067 1 in 361 1 in 413 1 in 350 1 in 542 | 1 in 3,910 1 in 1324 1 in 1514 1 in 1283 1 in 1987 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 15639 1 in 5295 1 in 6057 1 in 5133 1 in 7949 | 1 in 4268 1 in 1444 1 in 1652 1 in 1400 1 in 2168 | 1 in 15639 1 in 5295 1 in 6057 1 in 5133 1 in 7949 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

CUBN | Megaloblastic anemia 1 (Imerslund-Grasbeck syndrome) | Autosomal recessive | General population | ≤1 in 500 | <1 in 1000 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 4000 | <1 in 2000 | <1 in 4000 | 1 in 4 |

CUL4B | Mental retardation, X-linked, syndromic, type 15 (Cabezas type) | X-linked | General African/African American East Asian South Asian Latino | 1 in 500,000 N/A N/A N/A N/A | 1 in 636,300 N/A N/A N/A N/A | <1 in 1,000,000 N/A N/A N/A N/A | - - - - - | - - - - - | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 | - - - - - | - - - - - |

CUL7 | 3M syndrome 1 | Autosomal recessive | Caucasian/European population | 1 in 409 | 1 in 1005 | <1 in 1,000,000 | <1 in 1,000,000 | 1 in 4021 | 1 in 1636 | 1 in 4021 | 1 in 4 |

CWC27 | Retinitis pigmentosa with or without skeletal anomalies | Autosomal recessive | Caucasian/European population | 1 in 910 | Reduced | Reduced | Reduced | Reduced | 1 in 3640 | Reduced | 1 in 4 |

CWF19L1 | Spinocerebellar ataxia, autosomal recessive, type 17 | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |

CYB5A | 46,XY disorder of sex development due to isolated 17,20-lyase deficiency | Autosomal recessive | General population | ≤1 in 500 | <1 in 1500 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 5998 | <1 in 2000 | <1 in 5998 | 1 in 4 |

CYB5R3 | Methemoglobinemia, type 1; Methemoglobinemia, type 2 | Autosomal recessive | General population | ≤1 in 500 | <1 in 962 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 3846 | <1 in 2000 | <1 in 3846 | 1 in 4 |

CYBA | Chronic granulomatous disease, type 4 | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish Sephardic Jewish | 1 in 1,689 1 in 806 N/A 1 in 1896 1 in 1933 <1 in 500 1 in 13 | 1 in 1930 1 in 921 N/A 1 in 2167 1 in 2209 1 in 67167 1 in 65 | <1 in 1,000,000 <1 in 1,000,000 N/A <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 3380 | <1 in 1,000,000 <1 in 1,000,000 N/A <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 16900 | 1 in 7721 1 in 3685 N/A 1 in 8667 1 in 8837 1 in 268667 1 in 260 | 1 in 6756 1 in 3224 N/A 1 in 7584 1 in 7732 1 in 8060 1 in 52 | 1 in 7721 1 in 3685 N/A 1 in 8667 1 in 8837 1 in 268667 1 in 260 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

CYBB | Chronic granulomatous disease, X-linked | X-linked | General African/African American East Asian South Asian Latino | 1 in 100,000 N/A N/A N/A N/A | 1 in 250,000 N/A N/A N/A N/A | 1 in 999999 N/A N/A N/A N/A | - - - - - | - - - - - | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 | - - - - - | - - - - - |

CYC1 | Mitochondrial complex III deficiency, nuclear type 6 | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |

CYP11A1 | 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency | Autosomal recessive | General population | ≤1 in 500 | <1 in 917 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 3667 | <1 in 2000 | <1 in 3667 | 1 in 4 |

CYP11B1 | Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 792 1 in 792 1 in 1485 1 in 284 1 in 339 | 1 in 1,955 1 in 1957 1 in 3669 1 in 702 1 in 838 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 797071 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 7821 1 in 7827 1 in 14675 1 in 2807 1 in 3350 | 1 in 3168 1 in 3168 1 in 5940 1 in 1136 1 in 1356 | 1 in 7821 1 in 7827 1 in 14675 1 in 2807 1 in 3350 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

CYP11B2 | Hypoaldosteronism, congenital, due to CMO I deficiency | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish Sephardic Jewish | 1 in 825 1 in 502 1 in 1457 1 in 1917 1 in 945 N/A 1 in 30 | 1 in 943 1 in 574 1 in 1665 1 in 2191 1 in 1080 N/A 1 in 600 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 N/A 1 in 72000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 N/A <1 in 1,000,000 | 1 in 3771 1 in 2295 1 in 6661 1 in 8763 1 in 4320 N/A 1 in 2400 | 1 in 3300 1 in 2008 1 in 5828 1 in 7668 1 in 3780 N/A 1 in 120 | 1 in 3771 1 in 2295 1 in 6661 1 in 8763 1 in 4320 N/A 1 in 2400 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

CYP17A1 | 17 alpha(α)-hydroxylase/17,20-lyase deficiency | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 560 1 in 2147 1 in 409 1 in 1018 1 in 1313 | 1 in 679 1 in 2602 1 in 496 1 in 1234 1 in 1592 | <1 in 1,000,000 <1 in 1,000,000 1 in 811059 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 1 in 983102 <1 in 1,000,000 <1 in 1,000,000 | 1 in 2714 1 in 10410 1 in 1983 1 in 4936 1 in 6366 | 1 in 2240 1 in 8588 1 in 1636 1 in 4072 1 in 5252 | 1 in 2714 1 in 10410 1 in 1983 1 in 4936 1 in 6366 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

CYP19A1 | Aromatase deficiency | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 2,159 1 in 671 1 in 559 1 in 905 1 in 1009 | 1 in 3,532 1 in 1098 1 in 915 1 in 1481 1 in 1651 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 14129 1 in 4392 1 in 3659 1 in 5924 1 in 6604 | 1 in 8636 1 in 2684 1 in 2236 1 in 3620 1 in 4036 | 1 in 14129 1 in 4392 1 in 3659 1 in 5924 1 in 6604 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

CYP1B1 | Glaucoma, primary congenital, type 3A | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 196 1 in 246 1 in 339 1 in 325 1 in 1667 | 1 in 407 1 in 513 1 in 706 1 in 677 1 in 3473 | 1 in 319284 1 in 504300 1 in 957675 1 in 880208 <1 in 1,000,000 | 1 in 663410 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 1629 1 in 2050 1 in 2825 1 in 2708 1 in 13892 | 1 in 784 1 in 984 1 in 1356 1 in 1300 1 in 6668 | 1 in 1629 1 in 2050 1 in 2825 1 in 2708 1 in 13892 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

CYP21A2 | Congenital adrenal hyperplasia due to 21-hydroxylase deficiency | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish | 1 in 62 1 in 79 1 in 62 1 in 42-59 1 in 73 1 in 40 | 1 in 1,228 1 in 439 1 in 620 1 in 500 1 in 730 1 in 500 | 1 in 306412 1 in 138689 1 in 153760 1 in 100000 1 in 213160 1 in 80000 | <1 in 1,000,000 1 in 770494 <1 in 1,000,000 1 in 1000000 <1 in 1,000,000 1 in 1000000 | 1 in 4913 1 in 1756 1 in 2480 1 in 2000 1 in 2920 1 in 2000 | 1 in 249 1 in 316 1 in 248 1 in 200 1 in 292 1 in 160 | 1 in 4913 1 in 1756 1 in 2480 1 in 2000 1 in 2920 1 in 2000 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

CYP24A1 | Hypercalcemia, infantile, type 1 | Autosomal recessive | General population | ≤1 in 500 | <1 in 834 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 3334 | <1 in 2000 | <1 in 3334 | 1 in 4 |

CYP26B1 | Craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |

CYP26C1 | Focal facial dermal dysplasia 4 | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |

CYP27A1 | Cerebrotendinous xanthomatosis | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish | 1 in 275 1 in 285 1 in 122 1 in 143 1 in 302 1 in 331 | 1 in 1,113 1 in 1157 1 in 495 1 in 580 1 in 1226 1 in 33100 | <1 in 1,000,000 <1 in 1,000,000 1 in 241646 1 in 331996 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 1 in 980799 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 4452 1 in 4627 1 in 1981 1 in 2322 1 in 4903 1 in 132400 | 1 in 1100 1 in 1140 1 in 488 1 in 572 1 in 1208 1 in 1324 | 1 in 4452 1 in 4627 1 in 1981 1 in 2322 1 in 4903 1 in 132400 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

CYP27B1 | Vitamin D-dependent rickets, type 1 | Autosomal recessive | General African/African American East Asian South Asian Latino | N/A N/A N/A N/A N/A | N/A N/A N/A N/A N/A | N/A N/A N/A N/A N/A | N/A N/A N/A N/A N/A | N/A N/A N/A N/A N/A | N/A N/A N/A N/A N/A | N/A N/A N/A N/A N/A | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

CYP2R1 | Rickets due to defect in vitamin D 25-hydroxylation | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |

CYP2U1 | Spastic paraplegia 56, autosomal recessive | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |

CYP4F22 | Ichthyosis, congenital, autosomal recessive, type 5 | Autosomal recessive | Caucasian/European population | 1 in 901 | 1 in 1383 | <1 in 1,000,000 | <1 in 1,000,000 | 1 in 5533 | 1 in 3604 | 1 in 5533 | 1 in 4 |

CYP4V2 | Bietti crystalline corneoretinal dystrophy | Autosomal recessive | General population | ≤1 in 500 | <1 in 769 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 3078 | <1 in 2000 | <1 in 3078 | 1 in 4 |

CYP7B1 | Spastic paraplegia type 5A, autosomal recessive | Autosomal recessive | Caucasian/European population | 1 in 324 | 1 in 521 | 1 in 675720 | <1 in 1,000,000 | 1 in 2086 | 1 in 1296 | 1 in 2086 | 1 in 4 |

D2HGDH | D-2-hydroxyglutaric aciduria | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |

DAG1 | Muscular dystrophy-dystroglycanopathy type A9; Muscular dystrophy-dystroglycanopathy type C9 | Autosomal recessive | General population | ≤1 in 500 | <1 in 625 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 2502 | <1 in 2000 | <1 in 2502 | 1 in 4 |

DARS1 | Hypomyelination with brainstem and spinal cord involvement and leg spasticity | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |

DARS2 | Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation | Autosomal recessive | General population | ≤1 in 500 | <1 in 912 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 3647 | <1 in 2000 | <1 in 3647 | 1 in 4 |

DBH | Dopamine beta-hydroxylase deficiency | Autosomal recessive | General population | ≤1 in 500 | <1 in 1125 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 4500 | <1 in 2000 | <1 in 4500 | 1 in 4 |

DBT | Maple syrup urine disease, type 2 | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 410 1 in 480 <1 in 500 1 in 280 1 in 480 | 1 in 40,900 1 in 48000 1 in 50000 1 in 28000 1 in 48000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 163604 1 in 192000 1 in 200000 1 in 112000 1 in 192000 | 1 in 1640 1 in 1920 1 in 2000 1 in 1120 1 in 1920 | 1 in 163604 1 in 192000 1 in 200000 1 in 112000 1 in 192000 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

DCAF17 | Woodhouse-Sakati syndrome | Autosomal recessive | Caucasian/European population | 1 in 1053 | 1 in 1974 | <1 in 1,000,000 | <1 in 1,000,000 | 1 in 7894 | 1 in 4212 | 1 in 7894 | 1 in 4 |

DCC | Gaze palsy, familial horizontal, with progressive scoliosis, type 2 | Autosomal recessive | General population | ≤1 in 500 | <1 in 1312 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 5249 | <1 in 2000 | <1 in 5249 | 1 in 4 |

DCDC2 | Sclerosing cholangitis, neonatal; Nephronophthisis 19 | Autosomal recessive | General population | ≤1 in 500 | <1 in 1167 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 4666 | <1 in 2000 | <1 in 4666 | 1 in 4 |

DCHS1 | Van Maldergem syndrome 1 | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |

DCLRE1C | Omenn syndrome; Severe combined immunodeficiency, Athabascan type | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 903 1 in 511 1 in 958 1 in 901 1 in 1907 | 1 in 1,410 1 in 798 1 in 1497 1 in 1408 1 in 2980 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 5642 1 in 3194 1 in 5988 1 in 5631 1 in 11919 | 1 in 3612 1 in 2044 1 in 3832 1 in 3604 1 in 7628 | 1 in 5642 1 in 3194 1 in 5988 1 in 5631 1 in 11919 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

DCPS | Al-Raqad syndrome | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |

DCX | Lissencephaly, X-linked, type 1 | X-linked | General African/African American East Asian South Asian Latino | 1 in 50,000 N/A N/A N/A N/A | 1 in 158,748 N/A N/A N/A N/A | 1 in 634991 N/A N/A N/A N/A | - - - - - | - - - - - | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 | - - - - - | - - - - - |

DDB2 | Xeroderma pigmentosum, complementation group E | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 3,138 1 in 5766 1 in 1533 1 in 15308 1 in 8129 | 1 in 15,686 1 in 28830 1 in 7665 1 in 76540 1 in 40645 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 62744 1 in 115320 1 in 30660 1 in 306160 1 in 162580 | 1 in 12552 1 in 23064 1 in 6132 1 in 61232 1 in 32516 | 1 in 62744 1 in 115320 1 in 30660 1 in 306160 1 in 162580 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

DDC | Aromatic L-amino acid decarboxylase deficiency | Autosomal recessive | Caucasian/European population | 1 in 976 | 1 in 1394 | <1 in 1,000,000 | <1 in 1,000,000 | 1 in 5575 | 1 in 3904 | 1 in 5575 | 1 in 4 |

DDHD1 | Spastic paraplegia 28, autosomal recessive | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |

DDHD2 | Spastic paraplegia 54, autosomal recessive | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |

DDR2 | Spondylometaepiphyseal dysplasia, short limb-hand type | Autosomal recessive | General population | ≤1 in 500 | <1 in 700 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 2801 | <1 in 2000 | <1 in 2801 | 1 in 4 |

DDRGK1 | Spondyloepimetaphyseal dysplasia, Shohat type | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |

DDX11 | Warsaw breakage syndrome | Autosomal recessive | General population | ≤1 in 500 | <1 in 1000 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 4000 | <1 in 2000 | <1 in 4000 | 1 in 4 |

DDX3X | Mental retardation, X-linked, type 102 | X-linked | General population | ≤1 in 500 | <1 in 572581 | <1 in 1,000,000 | - | - | 1 in 4 | - | - |

DDX59 | Orofaciodigital syndrome V | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |

DENND5A | Epileptic encephalopathy, early infantile, 49 | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |

DES | Myopathy, myofibrillar, type 1 | Autosomal recessive* | General population | ≤1 in 500 | <1 in 724 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 2895 | <1 in 2000 | <1 in 2895 | 1 in 4 |

DGAT1 | ?Diarrhea 7, protein-losing enteropathy type | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |

DGKE | Nephrotic syndrome, type 7 | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |

DGUOK | DGUOK-related mitochondrial DNA depletion syndrome | Autosomal recessive | General population | ≤1 in 500 | <1 in 3123 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 12492 | <1 in 2000 | <1 in 12492 | 1 in 4 |

DHCR24 | Desmosterolosis | Autosomal recessive | General population | ≤1 in 500 | <1 in 875 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 3501 | <1 in 2000 | <1 in 3501 | 1 in 4 |

DHCR7 | Smith-Lemli-Opitz syndrome | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish | 1 in 70 1 in 51 1 in 357 1 in 334 1 in 118 1 in 38 | 1 in 1,756 1 in 1275 1 in 8925 1 in 8350 1 in 2950 1 in 1278 | 1 in 500310 1 in 260100 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 195970 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 7025 1 in 5100 1 in 35700 1 in 33400 1 in 11800 1 in 5112 | 1 in 285 1 in 204 1 in 1428 1 in 1336 1 in 472 1 in 153 | 1 in 7025 1 in 5100 1 in 35700 1 in 33400 1 in 11800 1 in 5112 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

DHDDS | Retinitis pigmentosa, type 59 | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish | 1 in 6,008 1 in 4291 N/A 1 in 6490 1 in 4223 1 in 117 | 1 in 8,010 1 in 5721 N/A 1 in 8653 1 in 5631 1 in 3900 | <1 in 1,000,000 <1 in 1,000,000 N/A <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 N/A <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 32041 1 in 22885 N/A 1 in 34613 1 in 22523 1 in 15600 | 1 in 24032 1 in 17164 N/A 1 in 25960 1 in 16892 1 in 468 | 1 in 32041 1 in 22885 N/A 1 in 34613 1 in 22523 1 in 15600 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

DHFR | Megaloblastic anemia due to dihydrofolate reductase deficiency | Autosomal recessive | General population | ≤1 in 500 | <1 in 600 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 2402 | <1 in 2000 | <1 in 2402 | 1 in 4 |

DHH | 46,XY complete gonadal dysgenesis | Autosomal recessive | General population | ≤1 in 500 | <1 in 688 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 2751 | <1 in 2000 | <1 in 2751 | 1 in 4 |

DHODH | Miller syndrome | Autosomal recessive | General population | ≤1 in 500 | <1 in 1749 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 6997 | <1 in 2000 | <1 in 6997 | 1 in 4 |

DHPS | Neurodevelopmental disorder with seizures and speech and walking impairment | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |

DHTKD1 | 2-aminoadipic 2-oxoadipic aciduria | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |

DIAPH1 | Seizures, cortical blindness, microcephaly syndrome | Autosomal recessive | General population | ≤1 in 500 | <1 in 654 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 2617 | <1 in 2000 | <1 in 2617 | 1 in 4 |

DIS3L2 | Perlman syndrome | Autosomal recessive | General population | ≤1 in 500 | <1 in 616 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 2463 | <1 in 2000 | <1 in 2463 | 1 in 4 |

DKC1 | Dyskeratosis congenita, X-linked | X-linked | General African/African American East Asian South Asian Latino | 1 in 250,000 N/A N/A N/A N/A | 1 in 459,999 N/A N/A N/A N/A | <1 in 1,000,000 N/A N/A N/A N/A | - - - - - | - - - - - | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 | - - - - - | - - - - - |

DLAT | Pyruvate dehydrogenase E2 deficiency | Autosomal recessive | Caucasian/European population | 1 in 1265 | 1 in 3161 | <1 in 1,000,000 | <1 in 1,000,000 | 1 in 12644 | 1 in 5060 | 1 in 12644 | 1 in 4 |

DLD | Dihydrolipoamide dehydrogenase deficiency | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish | 1 in 1,506 1 in 500 1 in 2252 1 in 1183 1 in 1684 1 in 100 | 1 in 14,549 1 in 4833 1 in 21769 1 in 11436 1 in 16279 1 in 2002 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 801274 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 58197 1 in 19333 1 in 87077 1 in 45743 1 in 65115 1 in 8006 | 1 in 6024 1 in 2000 1 in 9008 1 in 4732 1 in 6736 1 in 400 | 1 in 58197 1 in 19333 1 in 87077 1 in 45743 1 in 65115 1 in 8006 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

DLG3 | Mental retardation, X-linked, type 90 | X-linked | General African/African American East Asian South Asian Latino | 1 in 45,000 N/A N/A N/A N/A | 1 in 100,000 N/A N/A N/A N/A | 1 in 395995 N/A N/A N/A N/A | - - - - - | - - - - - | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 | - - - - - | - - - - - |

DLL3 | Spondylocostal dysostosis type 1 | Autosomal recessive | General population | ≤1 in 500 | <1 in 2748 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 10993 | <1 in 2000 | <1 in 10993 | 1 in 4 |

DMD | Duchenne/Becker muscular dystrophy | X-linked | General African/African American East Asian South Asian Latino Ashkenazi Jewish | 1 in 2,942 N/A N/A N/A N/A N/A | 1 in 58,819 N/A N/A N/A N/A N/A | 1 in 235277 N/A N/A N/A N/A N/A | - - - - - - | - - - - - - | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 | - - - - - - | - - - - - - |

DMGDH | Dimethylglycine dehydrogenase deficiency | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |

DMP1 | Hypophosphatemic rickets, autosomal recessive | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |

DMXL2 | Developmental and epileptic encephalopathy, type 81 | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |

DNAAF1 | Ciliary dyskinesia, primary, type 13 | Autosomal recessive | General population | ≤1 in 500 | <1 in 864 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 3455 | <1 in 2000 | <1 in 3455 | 1 in 4 |

DNAAF2 | Ciliary dyskinesia, primary, type 10 | Autosomal recessive | General population | ≤1 in 500 | <1 in 572 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 2287 | <1 in 2000 | <1 in 2287 | 1 in 4 |

DNAAF3 | Ciliary dyskinesia, primary, type 2 | Autosomal recessive | General population | ≤1 in 500 | <1 in 709 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 2835 | <1 in 2000 | <1 in 2835 | 1 in 4 |

DNAAF4 | Ciliary dyskinesia, primary, type 25 | Autosomal recessive | General population | ≤1 in 500 | <1 in 667 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 2668 | <1 in 2000 | <1 in 2668 | 1 in 4 |

DNAAF5 | Ciliary dyskinesia, primary, type 18 | Autosomal recessive | General population | ≤1 in 500 | <1 in 637 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 2547 | <1 in 2000 | <1 in 2547 | 1 in 4 |

DNAAF6 | Ciliary dyskinesia, primary, 36, X-linked | X-linked | General population | ≤1 in 500 | Reduced | Reduced | - | - | 1 in 4 | - | - |

DNAH1 | Spermatogenic failure 18 | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |

DNAH11 | Ciliary dyskinesia, primary, type 7, with or without situs inversus | Autosomal recessive | General population | ≤1 in 500 | <1 in 799 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 3195 | <1 in 2000 | <1 in 3195 | 1 in 4 |

DNAH5 | Ciliary dyskinesia, primary, type 3, with or without situs inversus | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish | 1 in 87 1 in 169 1 in 193 1 in 326 1 in 204 1 in 144 | 1 in 283 1 in 331 1 in 378 1 in 639 1 in 400 1 in 4567 | 1 in 58435 1 in 223777 1 in 291848 1 in 832678 1 in 326064 <1 in 1,000,000 | 1 in 113814 1 in 438326 1 in 571661 <1 in 1,000,000 1 in 638681 <1 in 1,000,000 | 1 in 675 1 in 1324 1 in 1512 1 in 2554 1 in 1598 1 in 18269 | 1 in 346 1 in 676 1 in 772 1 in 1304 1 in 816 1 in 548 | 1 in 675 1 in 1324 1 in 1512 1 in 2554 1 in 1598 1 in 18269 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

DNAH9 | Ciliary dyskinesia, primary, 40 | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |

DNAI1 | Ciliary dyskinesia, primary, type 1, with or without situs inversus | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish | 1 in 323 1 in 434 N/A 1 in 1184 1 in 1140 1 in 366 | 1 in 556 1 in 747 N/A 1 in 2039 1 in 1963 1 in 36546 | 1 in 717778 <1 in 1,000,000 N/A <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 N/A <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 2222 1 in 2990 N/A 1 in 8156 1 in 7853 1 in 146186 | 1 in 1292 1 in 1736 N/A 1 in 4736 1 in 4560 1 in 1462 | 1 in 2222 1 in 2990 N/A 1 in 8156 1 in 7853 1 in 146186 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

DNAI2 | Ciliary dyskinesia, primary, type 9, with or without situs inversus | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish | 1 in 758 1 in 414 1 in 1437 1 in 669 1 in 632 1 in 200 | 1 in 1,248 1 in 682 1 in 2367 1 in 1102 1 in 1041 1 in 20000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 4991 1 in 2728 1 in 9467 1 in 4408 1 in 4164 1 in 80000 | 1 in 3032 1 in 1656 1 in 5748 1 in 2676 1 in 2528 1 in 800 | 1 in 4991 1 in 2728 1 in 9467 1 in 4408 1 in 4164 1 in 80000 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

DNAJB13 | Ciliary dyskinesia, primary, 34 | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |

DNAJB2 | Spinal muscular atrophy, distal, autosomal recessive, type 5 | Autosomal recessive | General population | ≤1 in 500 | <1 in 1666 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 6664 | <1 in 2000 | <1 in 6664 | 1 in 4 |

DNAJC12 | Hyperphenylalaninemia, mild, non-BH4-deficient | Autosomal recessive | General African/African American East Asian South Asian Latino | 1 in 500 N/A N/A N/A N/A | N/A N/A N/A N/A N/A | N/A N/A N/A N/A N/A | N/A N/A N/A N/A N/A | N/A N/A N/A N/A N/A | 1 in 2000 N/A N/A N/A N/A | N/A N/A N/A N/A N/A | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

DNAJC19 | 3-methylglutaconic aciduria, type 5 | Autosomal recessive | General population | ≤1 in 500 | <1 in 1500 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 5998 | <1 in 2000 | <1 in 5998 | 1 in 4 |

DNAJC21 | Bone marrow failure syndrome 3 | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |

DNAJC6 | Parkinson disease, type 19A, juvenile-onset; Parkinson disease, type 19B, early-onset | Autosomal recessive | General population | ≤1 in 500 | <1 in 1000 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 4000 | <1 in 2000 | <1 in 4000 | 1 in 4 |

DNAL1 | Ciliary dyskinesia, primary, type 16 | Autosomal recessive | General population | <1 in 500 | <1 in 666 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 2665 | <1 in 2000 | <1 in 2665 | 1 in 4 |

DNASE1L3 | Systemic lupus erythematosus 16 | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |

DNM1L | Encephalopathy due to defective mitochondrial and peroxisomal fission, type 1 | Autosomal recessive* | General population | ≤1 in 500 | <1 in 695 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 2779 | <1 in 2000 | <1 in 2779 | 1 in 4 |

DNM2 | Lethal congenital contracture syndrome, type 5 | Autosomal recessive | General population | ≤1 in 500 | <1 in 1562 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 6248 | <1 in 2000 | <1 in 6248 | 1 in 4 |

DNMT3B | Immunodeficiency-centromeric instability-facial anomalies syndrome, type 1 | Autosomal recessive | Caucasian/European population | 1 in 2684 | 1 in 5367 | <1 in 1,000,000 | <1 in 1,000,000 | 1 in 21468 | 1 in 10736 | 1 in 21468 | 1 in 4 |

DOCK2 | Immunodeficiency 40 | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |

DOCK6 | Adams-Oliver syndrome 2 | Autosomal recessive | General population | ≤1 in 500 | <1 in 909 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 3637 | <1 in 2000 | <1 in 3637 | 1 in 4 |

DOCK7 | Epileptic encephalopathy, early infantile, 23 | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |

DOCK8 | Hyper-IgE recurrent infection syndrome, autosomal recessive | Autosomal recessive | Caucasian/European population | 1 in 221 | 1 in 595 | 1 in 525980 | <1 in 1,000,000 | 1 in 2380 | 1 in 884 | 1 in 2380 | 1 in 4 |

DOK7 | Fetal akinesia deformation sequence, type 3; Myasthenic syndrome, congenital, type 10 | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 262 1 in 178 1 in 255 1 in 193 1 in 255 | 1 in 719 1 in 490 1 in 701 1 in 531 1 in 701 | 1 in 753250 1 in 348524 1 in 715275 1 in 409739 1 in 715275 | <1 in 1,000,000 1 in 958441 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 2875 1 in 1958 1 in 2805 1 in 2123 1 in 2805 | 1 in 1048 1 in 712 1 in 1020 1 in 772 1 in 1020 | 1 in 2875 1 in 1958 1 in 2805 1 in 2123 1 in 2805 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

DOLK | Congenital disorder of glycosylation, type 1M | Autosomal recessive | General African/African American East Asian South Asian Latino | <1 in 500 N/A N/A N/A N/A | <1 in 563 N/A N/A N/A N/A | <1 in 1,000,000 N/A N/A N/A N/A | <1 in 1,000,000 N/A N/A N/A N/A | 1 in 2252 N/A N/A N/A N/A | 1 in 2002 N/A N/A N/A N/A | 1 in 2252 N/A N/A N/A N/A | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

DONSON | Microcephaly, short stature, and limb abnormalities | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |

DPAGT1 | Congenital disorder of glycosylation, type 1J; Myasthenic syndrome, congenital, type 13 | Autosomal recessive | General African/African American East Asian South Asian Latino | <1 in 500 N/A N/A N/A N/A | <1 in 808 N/A N/A N/A N/A | <1 in 1,000,000 N/A N/A N/A N/A | <1 in 1,000,000 N/A N/A N/A N/A | 1 in 3232 N/A N/A N/A N/A | 1 in 2002 N/A N/A N/A N/A | 1 in 3232 N/A N/A N/A N/A | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

DPH1 | Developmental delay with short stature, dysmorphic features, and sparse hair | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |

DPM1 | Congenital disorder of glycosylation, type 1E | Autosomal recessive | General African/African American East Asian South Asian Latino | <1 in 500 N/A N/A N/A N/A | <1 in 1,750 N/A N/A N/A N/A | <1 in 1,000,000 N/A N/A N/A N/A | <1 in 1,000,000 N/A N/A N/A N/A | 1 in 6997 N/A N/A N/A N/A | 1 in 2002 N/A N/A N/A N/A | 1 in 6997 N/A N/A N/A N/A | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

DPM2 | Congenital disorder of glycosylation, type Iu | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |

DPM3 | Congenital disorder of glycosylation, type Io | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |

DPY19L2 | Male infertility spermatogenic failure, type 9 | Autosomal recessive | General population | ≤1 in 500 | <1 in 834 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 3334 | <1 in 2000 | <1 in 3334 | 1 in 4 |

DPYD | Dihydropyrimidine dehydrogenase deficiency | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 558 1 in 710 1 in 196 1 in 248 1 in 970 | 1 in 55,701 1 in 71000 1 in 19600 1 in 24800 1 in 97000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 222804 1 in 284000 1 in 78400 1 in 99200 1 in 388000 | 1 in 2232 1 in 2840 1 in 784 1 in 992 1 in 3880 | 1 in 222804 1 in 284000 1 in 78400 1 in 99200 1 in 388000 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

DPYS | Dihydropyrimidinuria | Autosomal recessive | General population | ≤1 in 500 | <1 in 1500 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 5998 | <1 in 2000 | <1 in 5998 | 1 in 4 |

DRAM2 | Cone-rod dystrophy 21 | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |

DRC1 | Ciliary dyskinesia, primary, 21 | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |

DSE | Ehlers-Danlos syndrome, musculocontractural type 2 | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |

DSG1 | Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE | Autosomal recessive | General population | ≤1 in 500 | <1 in 1999 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 7996 | <1 in 2000 | <1 in 7996 | 1 in 4 |

DSG4 | Hypotrichosis, type 6 | Autosomal recessive | General population | ≤1 in 500 | <1 in 1167 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 4666 | <1 in 2000 | <1 in 4666 | 1 in 4 |

DSP | Cardiomyopathy, dilated, with woolly hair and keratoderma; Epidermolysis bullosa, lethal acantholytic | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |

DST | Epidermolysis bullosa simplex, autosomal recessive, type 2 | Autosomal recessive | General population | ≤1 in 500 | <1 in 723 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 2890 | <1 in 2000 | <1 in 2890 | 1 in 4 |

DSTYK | Spastic paraplegia 23 | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |

DTNBP1 | Hermansky-Pudlak syndrome 7 | Autosomal recessive | Caucasian/European population | 1 in 295 | 1 in 29401 | <1 in 1,000,000 | <1 in 1,000,000 | 1 in 117604 | 1 in 1180 | 1 in 117604 | 1 in 4 |

DUOX2 | Thyroid dyshormonogenesis, type 6 | Autosomal recessive | General African/African American East Asian South Asian Latino | 1 in 80 N/A N/A N/A N/A | 1 in 170 N/A N/A N/A N/A | 1 in 54064 N/A N/A N/A N/A | 1 in 115077 N/A N/A N/A N/A | 1 in 678 N/A N/A N/A N/A | 1 in 319 N/A N/A N/A N/A | 1 in 678 N/A N/A N/A N/A | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

DUOXA2 | Thyroid dyshormonogenesis, type 5 | Autosomal recessive | General African/African American East Asian South Asian Latino | 1 in 80 N/A N/A N/A N/A | 1 in 144 N/A N/A N/A N/A | 1 in 45921 N/A N/A N/A N/A | 1 in 83021 N/A N/A N/A N/A | 1 in 576 N/A N/A N/A N/A | 1 in 319 N/A N/A N/A N/A | 1 in 576 N/A N/A N/A N/A | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

DYM | Smith-McCort dysplasia; Dyggve-Melchior-Clausen disease | Autosomal recessive | General population | ≤1 in 500 | <1 in 1056 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 4222 | <1 in 2000 | <1 in 4222 | 1 in 4 |

DYNC2H1 | Short-rib thoracic dysplasia, type 3, with or without polydactyly | Autosomal recessive | General population | ≤1 in 500 | <1 in 809 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 3236 | <1 in 2000 | <1 in 3236 | 1 in 4 |

DYNC2I1 | Short-rib thoracic dysplasia 8 with or without polydactyly | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |

DYNC2I2 | Short-rib thoracic dysplasia 11 with or without polydactyly | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |

DYNC2LI1 | Short-rib thoracic dysplasia 15 with polydactyly | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |

DYNLT2B | Short-rib thoracic dysplasia 17 with or without polydactyly | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |

DYSF | Miyoshi muscular dystrophy, type 1; Limb-girdle muscular dystrophy, type 2 (LGMD R2) | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish Sephardic Jewish | 1 in 199 1 in 118 1 in 141 1 in 199 1 in 182 N/A 1 in 13 | 1 in 1,050 1 in 625 1 in 747 1 in 1054 1 in 964 N/A 1 in 433 | 1 in 835783 1 in 295070 1 in 421308 1 in 839204 1 in 701947 N/A 1 in 22533 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 N/A 1 in 751111 | 1 in 4200 1 in 2501 1 in 2988 1 in 4217 1 in 3857 N/A 1 in 1733 | 1 in 796 1 in 472 1 in 564 1 in 796 1 in 728 N/A 1 in 52 | 1 in 4200 1 in 2501 1 in 2988 1 in 4217 1 in 3857 N/A 1 in 1733 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

DZIP1L | Polycystic kidney disease 5 | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |

EARS2 | Combined oxidative phosphorylation deficiency 12 | Autosomal recessive | General population | ≤1 in 500 | <1 in 559 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 2237 | <1 in 2000 | <1 in 2237 | 1 in 4 |

EBP | MEND syndrome; Chondrodysplasia punctata | X-linked | General population | ≤1 in 500 | <1 in 1095238 | <1 in 1,000,000 | - | - | 1 in 4 | - | - |

ECEL1 | Arthrogryposis, distal, type 5D | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |

ECHS1 | Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |

ECM1 | Urbach-Wiethe disease | Autosomal recessive | General population | ≤1 in 500 | <1 in 1500 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 5998 | <1 in 2000 | <1 in 5998 | 1 in 4 |

EDA | Ectodermal dysplasia, type 1, hypohidrotic, X-linked | X-linked | General African/African American East Asian South Asian Latino | 1 in 5,715 N/A N/A N/A N/A | 1 in 10,610 N/A N/A N/A N/A | 1 in 42442 N/A N/A N/A N/A | - - - - - | - - - - - | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 | - - - - - | - - - - - |

EDAR | Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type | Autosomal recessive | General African/African American East Asian South Asian Latino | 1 in 131 1 in 65 N/A N/A 1 in 65 | 1 in 252 1 in 125 N/A N/A 1 in 125 | 1 in 132544 1 in 32602 N/A N/A 1 in 32602 | 1 in 254752 1 in 62892 N/A N/A 1 in 62892 | 1 in 1009 1 in 502 N/A N/A 1 in 502 | 1 in 525 1 in 260 N/A N/A 1 in 260 | 1 in 1009 1 in 502 N/A N/A 1 in 502 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

EDARADD | Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type | Autosomal recessive | General population | 1 in 385 | 1 in 514 | 1 in 791895 | <1 in 1,000,000 | 1 in 2054 | 1 in 1542 | 1 in 2054 | 1 in 4 |

EDN1 | Auriculocondylar syndrome, type 3 | Autosomal recessive | General population | ≤1 in 500 | <1 in 1999 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 7996 | <1 in 2000 | <1 in 7996 | 1 in 4 |

EDN3 | Waardenburg syndrome, type 4B | Autosomal recessive | General population | ≤1 in 500 | <1 in 1749 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 6997 | <1 in 2000 | <1 in 6997 | 1 in 4 |

EDNRB | ABCD syndrome | Autosomal recessive | General population | ≤1 in 500 | <1 in 1071 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 4285 | <1 in 2000 | <1 in 4285 | 1 in 4 |

EFEMP2 | Cutis laxa, autosomal recessive, type 1B | Autosomal recessive | Caucasian/European population | 1 in 2457 | 1 in 5220 | <1 in 1,000,000 | <1 in 1,000,000 | 1 in 20880 | 1 in 9828 | 1 in 20880 | 1 in 4 |

EFL1 | Shwachman-Diamond syndrome 2 | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |

EFNB1 | Craniofrontonasal dysplasia | X-linked | General population | ≤1 in 500 | <1 in 1178571 | <1 in 1,000,000 | - | - | 1 in 4 | - | - |

EGF | Hypomagnesemia 4, renal | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |

EGFR | ?Inflammatory skin and bowel disease, neonatal, 2 | Autosomal recessive | General population | ≤1 in 500 | <1 in 550 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 2202 | <1 in 2000 | <1 in 2202 | 1 in 4 |

EGR2 | Dejerine-Sottas disease | Autosomal recessive* | General population | ≤1 in 500 | <1 in 612 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 2446 | <1 in 2000 | <1 in 2446 | 1 in 4 |

EIF2AK3 | Wolcott-Rallison syndrome | Autosomal recessive | General African/African American East Asian South Asian Latino | <1 in 500 N/A N/A N/A N/A | <1 in 2,500 N/A N/A N/A N/A | <1 in 1,000,000 N/A N/A N/A N/A | <1 in 1,000,000 N/A N/A N/A N/A | 1 in 9984 N/A N/A N/A N/A | 1 in 2000 N/A N/A N/A N/A | 1 in 9984 N/A N/A N/A N/A | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

EIF2AK4 | Pulmonary venoocclusive disease 2 | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |

EIF2B1 | Leukoencephalopathy with vanishing white matter | Autosomal recessive | Caucasian/European population | 1 in 153 | Reduced | Reduced | Reduced | Reduced | 1 in 612 | Reduced | 1 in 4 |

EIF2B2 | Leukoencephalopathy with vanishing white matter | Autosomal recessive | Caucasian/European population | 1 in 227 | 1 in 289 | 1 in 262082 | 1 in 333244 | 1 in 1155 | 1 in 908 | 1 in 1155 | 1 in 4 |

EIF2B3 | Leukoencephalopathy with vanishing white matter | Autosomal recessive | Caucasian/European population | 1 in 414 | 1 in 965 | <1 in 1,000,000 | <1 in 1,000,000 | 1 in 3859 | 1 in 1656 | 1 in 3859 | 1 in 4 |

EIF2B4 | Leukoencephalopathy with vanishing white matter | Autosomal recessive | Caucasian/European population | 1 in 2121 | 1 in 2474 | <1 in 1,000,000 | <1 in 1,000,000 | 1 in 9897 | 1 in 8484 | 1 in 9897 | 1 in 4 |

EIF2B5 | Leukoencephalopathy with vanishing white matter | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 390 1 in 940 1 in 1502 1 in 3078 1 in 458 | 1 in 974 1 in 2350 1 in 3755 1 in 7695 1 in 1145 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 3894 1 in 9400 1 in 15020 1 in 30780 1 in 4580 | 1 in 1560 1 in 3760 1 in 6008 1 in 12312 1 in 1832 | 1 in 3894 1 in 9400 1 in 15020 1 in 30780 1 in 4580 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

EIF2S3 | MEHMO syndrome | X-linked | General population | ≤1 in 500 | Reduced | Reduced | - | - | 1 in 4 | - | - |

EIF4A3 | Robin sequence with cleft mandible and limb anomalies | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |

ELAC2 | Combined oxidative phosphorylation deficiency 17 | Autosomal recessive | General population | ≤1 in 500 | <1 in 688 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 2751 | <1 in 2000 | <1 in 2751 | 1 in 4 |

ELMO2 | Vascular malformation, primary intraosseous | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |

ELOVL4 | Ichthyosis, spastic quadriplegia, and mental retardation | Autosomal recessive | General population | ≤1 in 500 | <1 in 1624 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 6498 | <1 in 2000 | <1 in 6498 | 1 in 4 |

ELP1 | Familial dysautonomia | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino Ashkenazi Jewish | 1 in 506 1 in 808 1 in 657 1 in 853 1 in 594 1 in 34 | 1 in 621 1 in 992 1 in 807 1 in 1047 1 in 729 1 in 2692 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 376923 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 2484 1 in 3969 1 in 3227 1 in 4190 1 in 2918 1 in 10769 | 1 in 2024 1 in 3232 1 in 2628 1 in 3412 1 in 2376 1 in 140 | 1 in 2484 1 in 3969 1 in 3227 1 in 4190 1 in 2918 1 in 10769 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

ELP2 | Mental retardation, autosomal recessive, type 58 | Autosomal recessive | General population | ≤1 in 500 | <1 in 875 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 3501 | <1 in 2000 | <1 in 3501 | 1 in 4 |

EMC1 | Cerebellar atrophy, visual impairment, and psychomotor retardation | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |

EMD | Emery-Dreifuss muscular dystrophy, type 1, X-linked | X-linked | General African/African American East Asian South Asian Latino | 1 in 88,496 N/A N/A N/A N/A | <1 in 1,000,000 N/A N/A N/A N/A | <1 in 1,000,000 N/A N/A N/A N/A | - - - - - | - - - - - | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 | - - - - - | - - - - - |

EMG1 | Bowen-Conradi syndrome | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |

EML1 | Band heterotopia | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |

EMP2 | Nephrotic syndrome, type 10 | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |

ENAM | Amelogenesis imperfecta, type 1C | Autosomal recessive | General population | ≤1 in 500 | <1 in 1333 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 5332 | <1 in 2000 | <1 in 5332 | 1 in 4 |

ENO3 | ?Glycogen storage disease XIII | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |

ENPP1 | Arterial calcification, generalized, of infancy, type 1 | Autosomal recessive | General population | ≤1 in 500 | <1 in 1785 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 7140 | <1 in 2000 | <1 in 7140 | 1 in 4 |

ENTPD1 | Spastic paraplegia, type 64, autosomal recessive | Autosomal recessive | General population | ≤1 in 500 | <1 in 667 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 2668 | <1 in 2000 | <1 in 2668 | 1 in 4 |

EOGT | Adams-Oliver syndrome 4 | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |

EPB41 | Elliptocytosis, type 1 | Autosomal recessive* | General population | ≤1 in 500 | <1 in 1000 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 4000 | <1 in 2000 | <1 in 4000 | 1 in 4 |

EPB42 | Spherocytosis, type 5 | Autosomal recessive | General population | ≤1 in 500 | <1 in 49951 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 199804 | <1 in 2000 | <1 in 199804 | 1 in 4 |

EPCAM | Intestinal epithelial dysplasia (diarrhea type 5) | Autosomal recessive | General population | ≤1 in 500 | <1 in 2499 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 9994 | <1 in 2000 | <1 in 9994 | 1 in 4 |

EPG5 | Vici syndrome | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |

EPM2A | Epilepsy, progressive myoclonic, type 2A (Lafora) | Autosomal recessive | General population | ≤1 in 500 | <1 in 724 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 2896 | <1 in 2000 | <1 in 2896 | 1 in 4 |

EPRS1 | Leukodystrophy, hypomyelinating, 15 | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |

EPS8L2 | Deafness autosomal recessive 106 | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |

ERAL1 | Perrault syndrome 6 | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |

ERBB3 | Lethal congenital contractural syndrome, type 2 | Autosomal recessive | General population | ≤1 in 500 | <1 in 550 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 2202 | <1 in 2000 | <1 in 2202 | 1 in 4 |

ERCC1 | Cerebrooculofacioskeletal syndrome, type 4 | Autosomal recessive | General population | ≤1 in 500 | <1 in 1333 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 5332 | <1 in 2000 | <1 in 5332 | 1 in 4 |

ERCC2 | Trichothiodystrophy, type 1 | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 154 1 in 243 1 in 49 1 in 54 1 in 222 | 1 in 1,378 1 in 2187 1 in 441 1 in 486 1 in 1998 | 1 in 848848 <1 in 1,000,000 1 in 86436 1 in 104976 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 1 in 777924 1 in 944784 <1 in 1,000,000 | 1 in 5512 1 in 8748 1 in 1764 1 in 1944 1 in 7992 | 1 in 616 1 in 972 1 in 196 1 in 216 1 in 888 | 1 in 5512 1 in 8748 1 in 1764 1 in 1944 1 in 7992 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

ERCC3 | Trichothiodystrophy, type 2 | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 436 1 in 363 1 in 486 1 in 958 1 in 533 | 1 in 1,306 1 in 1089 1 in 1458 1 in 2874 1 in 1599 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 5224 1 in 4356 1 in 5832 1 in 11496 1 in 6396 | 1 in 1744 1 in 1452 1 in 1944 1 in 3832 1 in 2132 | 1 in 5224 1 in 4356 1 in 5832 1 in 11496 1 in 6396 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

ERCC4 | Fanconi anemia, complementation group Q | Autosomal recessive | Caucasian/European population | 1 in 313 | Reduced | Reduced | Reduced | Reduced | 1 in 1252 | Reduced | 1 in 4 |

ERCC5 | Cerebrooculofacioskeletal syndrome, type 3 | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 970 1 in 909 1 in 703 1 in 279 1 in 878 | 1 in 96,901 1 in 90900 1 in 70300 1 in 27900 1 in 87800 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 387604 1 in 363600 1 in 281200 1 in 111600 1 in 351200 | 1 in 3880 1 in 3636 1 in 2812 1 in 1116 1 in 3512 | 1 in 387604 1 in 363600 1 in 281200 1 in 111600 1 in 351200 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

ERCC6 | Cockayne syndrome, type B; Cerebrooculofacioskeletal syndrome, type 1 | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 335 1 in 214 1 in 241 1 in 431 1 in 419 | 1 in 3,132 1 in 2006 1 in 2259 1 in 4041 1 in 3928 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 12529 1 in 8025 1 in 9038 1 in 16163 1 in 15713 | 1 in 1340 1 in 856 1 in 964 1 in 1724 1 in 1676 | 1 in 12529 1 in 8025 1 in 9038 1 in 16163 1 in 15713 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

ERCC6L2 | Bone marrow failure syndrome 2 | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |

ERCC8 | Cockayne syndrome, type A | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 1,080 1 in 1557 1 in 1006 1 in 1387 1 in 218 | 1 in 2,670 1 in 3852 1 in 2489 1 in 3431 1 in 539 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 1 in 470237 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 10680 1 in 15406 1 in 9954 1 in 13724 1 in 2157 | 1 in 4320 1 in 6228 1 in 4024 1 in 5548 1 in 872 | 1 in 10680 1 in 15406 1 in 9954 1 in 13724 1 in 2157 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

ERLIN1 | Spastic paraplegia 62 | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |

ERLIN2 | Spastic paraplegia, type 18, autosomal recessive | Autosomal recessive | General population | ≤1 in 500 | <1 in 786 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 3144 | <1 in 2000 | <1 in 3144 | 1 in 4 |

ESCO2 | Roberts syndrome | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 1,395 1 in 671 1 in 950 1 in 1378 1 in 3312 | 1 in 18,820 1 in 9059 1 in 12825 1 in 18603 1 in 44712 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 75280 1 in 36234 1 in 51300 1 in 74412 1 in 178848 | 1 in 5580 1 in 2684 1 in 3800 1 in 5512 1 in 13248 | 1 in 75280 1 in 36234 1 in 51300 1 in 74412 1 in 178848 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

ESPN | Deafness, autosomal recessive, type 36 | Autosomal recessive | General population | ≤1 in 500 | <1 in 667 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 2668 | <1 in 2000 | <1 in 2668 | 1 in 4 |

ESR1 | Estrogen resistance | Autosomal recessive | General population | ≤1 in 500 | <1 in 1250 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 4999 | <1 in 2000 | <1 in 4999 | 1 in 4 |

ESRRB | Deafness, autosomal recessive, type 35 | Autosomal recessive | General population | ≤1 in 500 | <1 in 1125 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 4500 | <1 in 2000 | <1 in 4500 | 1 in 4 |

ETFA | Glutaric acidemia, type 2A | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 857 1 in 939 1 in 1246 1 in 1099 1 in 3383 | 1 in 2,284 1 in 2504 1 in 3323 1 in 2931 1 in 9021 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 9135 1 in 10016 1 in 13291 1 in 11723 1 in 36085 | 1 in 3428 1 in 3756 1 in 4984 1 in 4396 1 in 13532 | 1 in 9135 1 in 10016 1 in 13291 1 in 11723 1 in 36085 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

ETFB | Glutaric acidemia, type 2B | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 1,593 1 in 821 1 in 9195 1 in 1021 1 in 8122 | 1 in 2,230 1 in 1149 1 in 12873 1 in 1429 1 in 11371 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 8919 1 in 4598 1 in 51492 1 in 5718 1 in 45483 | 1 in 6372 1 in 3284 1 in 36780 1 in 4084 1 in 32488 | 1 in 8919 1 in 4598 1 in 51492 1 in 5718 1 in 45483 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

ETFDH | Glutaric acidemia, type 2C | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 336 1 in 343 1 in 89 1 in 733 1 in 586 | 1 in 615 1 in 629 1 in 163 1 in 1344 1 in 1074 | 1 in 826784 1 in 862759 1 in 58087 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 1 in 106493 <1 in 1,000,000 <1 in 1,000,000 | 1 in 2461 1 in 2515 1 in 653 1 in 5375 1 in 4297 | 1 in 1344 1 in 1372 1 in 356 1 in 2932 1 in 2344 | 1 in 2461 1 in 2515 1 in 653 1 in 5375 1 in 4297 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

ETHE1 | Ethylmalonic encephalopathy | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 1,279 1 in 1897 N/A 1 in 3848 1 in 934 | 1 in 4,794 1 in 7114 N/A 1 in 14430 1 in 3503 | <1 in 1,000,000 <1 in 1,000,000 N/A <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 N/A <1 in 1,000,000 <1 in 1,000,000 | 1 in 19174 1 in 28455 N/A 1 in 57720 1 in 14010 | 1 in 5116 1 in 7588 N/A 1 in 15392 1 in 3736 | 1 in 19174 1 in 28455 N/A 1 in 57720 1 in 14010 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

EVC | Ellis-van Creveld syndrome | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 370 1 in 555 1 in 456 1 in 1486 1 in 1199 | 1 in 739 1 in 1110 1 in 912 1 in 2972 1 in 2398 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 <1 in 1,000,000 | 1 in 2956 1 in 4440 1 in 3648 1 in 11888 1 in 9592 | 1 in 1480 1 in 2220 1 in 1824 1 in 5944 1 in 4796 | 1 in 2956 1 in 4440 1 in 3648 1 in 11888 1 in 9592 | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

EVC2 | Ellis-van Creveld syndrome | Autosomal recessive | General African/African American East Asian South Asian Latino | 1 in 240 N/A N/A N/A N/A | 1 in 718 N/A N/A N/A N/A | 1 in 689280 N/A N/A N/A N/A | <1 in 1,000,000 N/A N/A N/A N/A | 1 in 2872 N/A N/A N/A N/A | 1 in 960 N/A N/A N/A N/A | 1 in 2872 N/A N/A N/A N/A | 1 in 4 1 in 4 1 in 4 1 in 4 1 in 4 |

EXOSC2 | Short stature, hearing loss, retinitis pigmentosa, and distinctive facies | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |

EXOSC3 | Pontocerebellar hypoplasia, type 1B | Autosomal recessive | Caucasian/European African/African American East Asian South Asian Latino | 1 in 139 1 in 287 1 in 336 1 in 213 1 in 507 | 1 in 300 1 in 622 1 in 728 1 in 462 1 in 1099 | 1 in 166800 1 in 713865 1 in 978432 1 in 393198 <1 in 1,000,000 | 1 in 360000 <1 in 1,000,000 <1 in 1,000,000 1 in 851929 <1 in 1,000,000 | 1 in 1200 |