| 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 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 |
| EXOSC8 | Pontocerebellar hypoplasia, type 1C | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |
| EXPH5 | Epidermolysis bullosa, nonspecific, autosomal recessive | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |
| EXT1 | Chondrosarcoma | Autosomal recessive | General population | ≤1 in 500 | <1 in 616 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 2464 | <1 in 2000 | <1 in 2464 | 1 in 4 |
| EXTL3 | Immunoskeletal dysplasia with neurodevelopmental abnormalities | 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 |
| 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 |
| F10 | Factor X 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 |
| 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 |
| F13A1 | Factor XIIIA deficiency | Autosomal recessive | General population | ≤1 in 500 | <1 in 958 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 3834 | <1 in 2000 | <1 in 3834 | 1 in 4 |
| F13B | Factor XIIIB 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 |
| 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 |
| F7 | Factor VII deficiency | Autosomal recessive | General population | ≤1 in 500 | <1 in 653 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 2610 | <1 in 2000 | <1 in 2610 | 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 | - - - - - | - - - - - |
| FA2H | Spastic paraplegia, type 35, autosomal recessive | Autosomal recessive | Caucasian/European population | 1 in 1669 | 1 in 2284 | <1 in 1,000,000 | <1 in 1,000,000 | 1 in 9134 | 1 in 6676 | 1 in 9134 | 1 in 4 |
| FADD | Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 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 |
| FAM126A | Hypomyelinating leukodystrophy, type 5 | Autosomal recessive | Caucasian/European population | 1 in 874 | 1 in 3057 | <1 in 1,000,000 | <1 in 1,000,000 | 1 in 12226 | 1 in 3496 | 1 in 12226 | 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 |
| FAM20A | Amelogenesis imperfecta, type 1G (Enamel-renal syndrome) | 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 |
| 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 |
| FAN1 | Interstitial nephritis, karyomegalic | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 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 |
| FANCB | Fanconi anemia, complementation group B | X-linked | General population | ≤1 in 500 | <1 in 562500 | <1 in 1,000,000 | - | - | 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 |
| FANCD2 | Fanconi anemia, complementation group D2 | Autosomal recessive | Caucasian/European population | 1 in 177 | 1 in 250 | 1 in 177236 | 1 in 250667 | 1 in 1001 | 1 in 708 | 1 in 1001 | 1 in 4 |
| FANCE | Fanconi anemia, complementation group E | Autosomal recessive | Caucasian/European population | 1 in 916 | 1 in 1145 | <1 in 1,000,000 | <1 in 1,000,000 | 1 in 4579 | 1 in 3664 | 1 in 4579 | 1 in 4 |
| FANCF | Fanconi anemia, complementation group F | Autosomal recessive | Caucasian/European population | 1 in 909 | 1 in 1074 | <1 in 1,000,000 | <1 in 1,000,000 | 1 in 4296 | 1 in 3636 | 1 in 4296 | 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 |
| FANCI | Fanconi anemia, complementation group I | Autosomal recessive | Caucasian/European population | 1 in 557 | 1 in 684 | <1 in 1,000,000 | <1 in 1,000,000 | 1 in 2736 | 1 in 2228 | 1 in 2736 | 1 in 4 |
| FANCL | Fanconi anemia, complementation group L | Autosomal recessive | Caucasian/European population | 1 in 102 | 1 in 130 | 1 in 53063 | 1 in 67658 | 1 in 520 | 1 in 408 | 1 in 520 | 1 in 4 |
| FANCM | Spermatogenic failure 28 | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |
| FAR1 | Peroxisomal fatty acyl-CoA reductase 1 disorder | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |
| FARS2 | Combined oxidative phosphorylation deficiency 14; Spastic paraplegia, type 77, 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 |
| FASTKD2 | Combined oxidative phosphorylation deficiency 44 | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |
| FAT4 | Hennekam lymphangiectasia-lymphedema syndrome 2 | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |
| FBLN5 | Cutis laxa, autosomal recessive, type 1A | 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 |
| FBP1 | Fructose-1,6-bisphosphatase 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 |
| FBXL4 | Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) | Autosomal recessive | Caucasian/European population | 1 in 913 | Reduced | Reduced | Reduced | Reduced | 1 in 3652 | Reduced | 1 in 4 |
| FBXO7 | Parkinson disease, type 15, 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 |
| FCGR3A | Immunodeficiency 20 | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |
| FCN3 | Immunodeficiency due to ficolin 3 deficiency | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |
| FDXR | Auditory neuropathy and optic atrophy | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |
| FECH | Protoporphyria, erythropoietic, autosomal recessive | Autosomal recessive | General population | ≤1 in 500 | <1 in 728 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 2910 | <1 in 2000 | <1 in 2910 | 1 in 4 |
| FERMT1 | Kindler syndrome | Autosomal recessive | General population | ≤1 in 500 | <1 in 1444 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 5776 | <1 in 2000 | <1 in 5776 | 1 in 4 |
| FERMT3 | Leukocyte adhesion deficiency, type 3 | 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 |
| FEZF1 | Hypogonadotropic hypogonadism type 22, with or without anosmia | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |
| FGA | Afibrinogenemia, congenital | 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 |
| FGB | Congenital afibrinogenemia | 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 |
| 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 | - - - - - | - - - - - |
| FGD4 | Charcot-Marie-Tooth disease, type 4H | 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 |
| FGF16 | Metacarpal 4-5 fusion | X-linked | General population | ≤1 in 500 | Reduced | Reduced | - | - | 1 in 4 | - | - |
| FGF23 | Tumoral calcinosis, hyperphosphatemic, familial, type 2 | 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 |
| FGF3 | Deafness, congenital with inner ear agenesis, microtia, and microdontia | Autosomal recessive | General population | ≤1 in 500 | <1 in 938 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 3750 | <1 in 2000 | <1 in 3750 | 1 in 4 |
| FGF5 | Trichomegaly | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |
| FGG | Afibrinogenemia, congenital; Hypofibrinogenemia, congenital | Autosomal recessive | General population | ≤1 in 500 | <1 in 539 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 2156 | <1 in 2000 | <1 in 2156 | 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 |
| FHL1 | Emery-Dreifuss muscular dystrophy, type 6, X-linked | X-linked | General population | 1 in 88496 | 1 in 156529 | 1 in 626114 | - | - | 1 in 4 | - | - |
| FIBP | Thauvin-Robinet-Faivre syndrome | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |
| FIG4 | Charcot-Marie-Tooth disease, type 4J; Yunis-Varon syndrome | 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 |
| FKBP10 | Bruck syndrome 1 | Autosomal recessive | Caucasian/European population | 1 in 1025 | 1 in 2142 | <1 in 1,000,000 | <1 in 1,000,000 | 1 in 8568 | 1 in 4100 | 1 in 8568 | 1 in 4 |
| FKBP14 | Ehlers-Danlos syndrome, kyphoscoliotic type, 2 | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 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 |
| FLAD1 | Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |
| FLG | Ichthyosis vulgaris | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |
| FLI1 | Bleeding disorder, platelet-type, type 21 | 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 |
| FLNA | FLNA-related disorders | X-linked | General population | ≤1 in 500 | <1 in 1261905 | <1 in 1,000,000 | - | - | 1 in 4 | - | - |
| FLNB | Spondylocarpotarsal synostosis syndrome | Autosomal recessive | General population | ≤1 in 500 | <1 in 2721 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 10882 | <1 in 2000 | <1 in 10882 | 1 in 4 |
| FLVCR1 | Posterior column ataxia-retinitis pigmentosa syndrome | Autosomal recessive | General population | ≤1 in 500 | <1 in 589 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 2355 | <1 in 2000 | <1 in 2355 | 1 in 4 |
| FLVCR2 | Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome | 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 |
| FMN2 | Mental retardation, autosomal recessive, type 47 | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |
| FMO3 | Trimethylaminuria | Autosomal recessive | General population | ≤1 in 500 | <1 in 1416 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 5665 | <1 in 2000 | <1 in 5665 | 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 | - - - - - - | - - - - - - |
| FOLR1 | Neurodegeneration due to cerebral folate transport 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 |
| FOXE1 | Bamforth-Lazarus syndrome | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |
| FOXE3 | Anterior segment dysgenesis, type 2, multiple subtypes | 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 |
| FOXI1 | Deafness, autosomal recessive 4, with enlarged vestibular aqueduct | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |
| FOXN1 | T-cell immunodeficiency, congenital alopecia and nail dystrophy | Autosomal recessive | Caucasian/European population | 1 in 4349 | 1 in 4832 | <1 in 1,000,000 | <1 in 1,000,000 | 1 in 19328 | 1 in 17396 | 1 in 19328 | 1 in 4 |
| FOXO1 | Rhabdomyosarcoma 2 (alveolar) | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |
| FOXP3 | Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked | X-linked | General population | ≤1 in 500 | <1 in 714286 | <1 in 1,000,000 | - | - | 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 |
| FREM1 | Manitoba oculotrichoanal syndrome | 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 |
| FREM2 | Fraser syndrome, type 2 | Autosomal recessive | Caucasian/European population | 1 in 115 | 1 in 144 | 1 in 66010 | 1 in 82369 | 1 in 574 | 1 in 460 | 1 in 574 | 1 in 4 |
| FRMD7 | Nystagmus 1, congenital, X-linked | X-linked | General population | ≤1 in 500 | <1 in 1062500 | <1 in 1,000,000 | - | - | 1 in 4 | - | - |
| FRMPD4 | Mental retardation, X-linked, type 104 | X-linked | General population | ≤1 in 500 | <1 in 625000 | <1 in 1,000,000 | - | - | 1 in 4 | - | - |
| FRRS1L | Epileptic encephalopathy, early infantile, 37 | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |
| FSHB | Hypogonadotropic hypogonadism, type 24, without anosmia | 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 |
| FSHR | Ovarian dysgenesis 1 | 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 |
| 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 |
| FTL | L-ferritin 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 |
| FTO | Growth retardation, developmental delay, facial dysmorphism | 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 |
| 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 |
| FUT8 | Congenital disorder of glycosylation with defective fucosylation, type 1 | 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 |
| FXN | Friedreich ataxia | Autosomal recessive | Caucasian/European population | 1 in 85 | 1 in 8401 | <1 in 1,000,000 | <1 in 1,000,000 | 1 in 33604 | 1 in 340 | 1 in 33604 | 1 in 4 |
| FYB1 | Thrombocytopenia 3 | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |
| FYCO1 | Cataract 18, autosomal recessive | 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 |
| FZD6 | Nail disorder, nonsyndromic congenital, type 10 (claw-shaped nails) | 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 |
| 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 |
| GALNT3 | Tumoral calcinosis, hyperphosphatemic, familial, type 1 | Autosomal recessive | General population | 1 in 500 | 1 in 3744 | <1 in 1,000,000 | <1 in 1,000,000 | 1 in 14974 | 1 in 2000 | 1 in 14974 | 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 |
| GAN | Giant axonal neuropathy, type 1 | 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 |
| GAS8 | Ciliary dyskinesia, primary, 33 | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |
| GATA1 | Anemia, X-linked, with/without neutropenia and/or platelet abnormalities; Thrombocytopenia with beta-thalassemia, X-linked; Thrombocytopenia, X-linked, with or without dyserythropoietic anemia | X-linked | General population | ≤1 in 500 | <1 in 964286 | <1 in 1,000,000 | - | - | 1 in 4 | - | - |
| GATM | Cerebral creatine deficiency syndrome, type 3 | Autosomal recessive | Caucasian/European population | 1 in 6747 | 1 in 13493 | <1 in 1,000,000 | <1 in 1,000,000 | 1 in 53972 | 1 in 26988 | 1 in 53972 | 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 |
| GBA2 | Spastic paraplegia 46, autosomal recessive | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 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 |
| GCK | Permanent neonatal diabetes mellitus (PNDM) | 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 |
| GCLC | Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |
| GCM2 | Hypoparathyroidism, familial isolated (FIH) 2 | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |
| GCNT2 | Cataract 13, with adult i phenotype | 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 |
| 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 |
| GDF1 | Right atrial isomerism (Ivemark syndrome) | 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 |
| 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 |
| GDF6 | Leber congenital amaurosis 17 | 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 |
| GDI1 | Mental retardation, X-linked, type 41 | X-linked | General population | 1 in 45001 | 1 in 101251 | 1 in 405004 | - | - | 1 in 4 | - | - |
| GEMIN4 | Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |
| GFER | Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay | Autosomal recessive | General population | ≤1 in 500 | <1 in 715 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 2858 | <1 in 2000 | <1 in 2858 | 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 |
| GFPT1 | Myasthenia, congenital, type 12, with tubular aggregates | Autosomal recessive | Caucasian/European population | 1 in 192 | 1 in 243 | 1 in 186573 | 1 in 236066 | 1 in 972 | 1 in 768 | 1 in 972 | 1 in 4 |
| GGCX | Vitamin K-dependent clotting factors, combined deficiency of, 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 |
| GGT1 | Glutathioninuria | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |
| GH1 | Growth hormone deficiency, isolated, type 1A; Kowarski syndrome | Autosomal recessive | General population | 1 in 224 | 1 in 597 | 1 in 535769 | <1 in 1,000,000 | 1 in 2387 | 1 in 898 | 1 in 2387 | 1 in 4 |
| GHR | Laron dwarfism | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 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 |
| GHSR | Growth hormone deficiency, isolated partial | 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 |
| GINS1 | Immunodeficiency 55 | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |
| GIPC3 | Deafness, autosomal recessive, type 15 | 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 |
| GJA1 | Craniometaphyseal dysplasia, autosomal recessive | Autosomal recessive | General population | ≤1 in 500 | <1 in 1307 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 5230 | <1 in 2000 | <1 in 5230 | 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 |
| GJC2 | Spastic paraplegia, type 44, autosomal recessive | 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 |
| GK | Glycerol kinase deficiency | X-linked | General population | ≤1 in 500 | <1 in 1250000 | <1 in 1,000,000 | - | - | 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 |
| GLDN | Lethal congenital contracture syndrome 11 | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 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 |
| GLIS2 | Nephronophthisis, type 7 | 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 |
| GLIS3 | Diabetes mellitus, neonatal, with congenital hypothyroidism | 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 |
| GLRA1 | Hyperekplexia, type 1 | Autosomal recessive* | General population | ≤1 in 500 | <1 in 1075 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 4300 | <1 in 2000 | <1 in 4300 | 1 in 4 |
| GLRB | Hyperekplexia, type 2 | 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 |
| GLRX5 | Anemia, sideroblastic, type 3, pyridoxine-refractory; Spasticity, childhood-onset, with hyperglycinemia | Autosomal recessive | General population | ≤1 in 500 | <1 in 584 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 2335 | <1 in 2000 | <1 in 2335 | 1 in 4 |
| GLUL | Glutamine deficiency, congenital | 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 |
| GLYCTK | D-glyceric aciduria | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |
| GM2A | GM2-gangliosidosis, AB variant | Autosomal recessive | General population | ≤1 in 500 | <1 in 2249 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 8995 | <1 in 2000 | <1 in 8995 | 1 in 4 |
| GMPPA | Alacrima, achalasia, and mental retardation syndrome | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |
| GMPPB | Muscular dystrophy-dystroglycanopathy 14 | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |
| GNAT1 | Night blindness, congenital stationary, type 1G | 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 |
| GNAT2 | Achromatopsia, type 4 | 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 |
| GNB3 | Night blindness, congenital stationary, type 1H | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |
| GNB5 | Intellectual developmental disorder with cardiac arrhythmia; Language delay and ADHD/cognitive impairment with or without cardiac arrhythmia | 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 |
| 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 |
| GNPAT | Rhizomelic chondrodysplasia punctata, type 2 | Autosomal recessive | Caucasian/European population | 1 in 3136 | 1 in 3763 | <1 in 1,000,000 | <1 in 1,000,000 | 1 in 15052 | 1 in 12544 | 1 in 15052 | 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 |
| GORAB | Geroderma osteodysplasticum | 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 |
| GOSR2 | Epilepsy, progressive myoclonic, type 6 | 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 |
| GOT2 | Epileptic encephalopathy, early infantile, 82 | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 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 |
| GP6 | Bleeding disorder, platelet-type, type 11 | 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 |
| 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 |
| GPAA1 | Glycosylphosphatidylinositol biosynthesis defect 15 | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |
| GPC3 | Simpson-Golabi-Behmel syndrome, type 1 | X-linked | General population | ≤1 in 500 | <1 in 823530 | <1 in 1,000,000 | - | - | 1 in 4 | - | - |
| GPC6 | Omodysplasia, type 1 | 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 |
| GPD1 | Hypertriglyceridemia, transient infantile | 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 |
| GPHN | Molybdenum cofactor deficiency C | 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 |
| GPI | Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase 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 |
| GPIHBP1 | Hyperlipoproteinemia, type 1D | 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 |
| 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 | - - - - - | - - - - - |
| GPR179 | Night blindness, congenital stationary (complete), type 1E, autosomal recessive | Autosomal recessive | General population | ≤1 in 500 | <1 in 945 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 3778 | <1 in 2000 | <1 in 3778 | 1 in 4 |
| GPR68 | Amelogenesis imperfecta, type 2A6 (hypomaturation type) | 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 |
| GPSM2 | Chudley-McCullough syndrome | 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 |
| GPT2 | Mental retardation, autosomal recessive 49 | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |
| GPX1 | Hemolytic anemia due to glutathione peroxidase deficiency | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |
| GPX4 | Spondylometaphyseal dysplasia, Sedaghatian type | 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 |
| GRHL2 | Ectodermal dysplasia/short stature 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 |
| 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 |
| GRIA3 | Mental retardation, X-linked, type 94 | X-linked | General population | 1 in 500000 | 1 in 600000 | <1 in 1,000,000 | - | - | 1 in 4 | - | - |
| GRID2 | Spinocerebellar ataxia, autosomal recessive, type 18 | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |
| GRIK2 | Mental retardation, autosomal recessive, type, 6 | 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 |
| GRIN1 | Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive | Autosomal recessive | General population | ≤1 in 500 | <1 in 728 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 2910 | <1 in 2000 | <1 in 2910 | 1 in 4 |
| GRIP1 | Fraser syndrome 3 | Autosomal recessive | Caucasian/European population | 1 in 333 | 1 in 554 | 1 in 738372 | <1 in 1,000,000 | 1 in 2217 | 1 in 1332 | 1 in 2217 | 1 in 4 |
| GRK1 | Oguchi disease-2 | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |
| GRM1 | Spinocerebellar ataxia, autosomal recessive, type 13 | 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 |
| GRM6 | Night blindness, congenital stationary (complete), type 1B, autosomal recessive | 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 |
| GRN | Ceroid lipofuscinosis, neuronal, 11 | Autosomal recessive | General population | ≤1 in 500 | <1 in 967 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 3867 | <1 in 2000 | <1 in 3867 | 1 in 4 |
| GRXCR1 | Deafness, autosomal recessive, type 25 | 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 |
| GSC | Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities | 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 |
| 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 |
| GTF2E2 | Trichothiodystrophy 6, nonphotosensitive | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |
| GTF2H5 | Trichothiodystrophy, type 3, photosensitive | 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 |
| GTPBP2 | Jaberi-Elahi syndrome | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |
| GTPBP3 | Combined oxidative phosphorylation deficiency 23 | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |
| GUCY1A1 | Moyamoya 6 with achalasia | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |
| GUCY2C | Meconium ileus | 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 |
| 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 |
| GUF1 | ?Epileptic encephalopathy, early infantile, 40 | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 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 |
| GYG1 | Polyglucosan body 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 |
| GYS1 | Glycogen storage disease, type 0, muscle | 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 |
| GYS2 | Glycogen storage disease, type 0, liver | Autosomal recessive | General population | ≤1 in 500 | <1 in 808 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 3232 | <1 in 2000 | <1 in 3232 | 1 in 4 |
| GZF1 | Joint laxity, short stature, and myopia | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |
| H6PD | Cortisone reductase deficiency 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 |
| HAAO | Vertebral, cardiac, renal, and limb defects syndrome 1 | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |
| HACE1 | Spastic paraplegia and psychomotor retardation with or without seizures | 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 |
| 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 |
| HAL | [Histidinemia] | Autosomal recessive* | General population | 1 in 72 | Reduced | Reduced | Reduced | Reduced | 1 in 288 | Reduced | 1 in 4 |
| HAMP | Hemochromatosis, type 2B | Autosomal recessive | Caucasian/European population | 1 in 8124 | 1 in 10832 | <1 in 1,000,000 | <1 in 1,000,000 | 1 in 43327 | 1 in 32496 | 1 in 43327 | 1 in 4 |
| HARS1 | Usher syndrome, type 3B | 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 |
| 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 |
| HCCS | Linear skin defects with multiple congenital anomalies, type 1 | X-linked | General population | ≤1 in 500 | <1 in 750000 | <1 in 1,000,000 | - | - | 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 | - - - - - | - - - - - |
| HDAC8 | Cornelia de Lange syndrome 5 | X-linked | General population | ≤1 in 500 | <1 in 765625 | <1 in 1,000,000 | - | - | 1 in 4 | - | - |
| HELLS | Immunodeficiency-centromeric instability-facial anomalies syndrome 4 | Autosomal recessive | Caucasian/European population | 1 in 240 | Reduced | Reduced | Reduced | Reduced | 1 in 960 | Reduced | 1 in 4 |
| HEPACAM | Megalencephalic leukoencephalopathy with subcortical cysts 2A | Autosomal recessive | General population | ≤1 in 500 | <1 in 591 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 2365 | <1 in 2000 | <1 in 2365 | 1 in 4 |
| HERC1 | Macrocephaly, dysmorphic facies, and psychomotor retardation | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |
| HERC2 | Mental retardation, autosomal recessive, type 38 | 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 |
| HES7 | Spondylocostal dysostosis, type 4, autosomal recessive | 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 |
| HESX1 | Growth hormone deficiency with pituitary anomalies | 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 |
| 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 |
| HFM1 | Premature ovarian failure 9 | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 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 |
| HGF | Deafness, autosomal recessive, type 39 | 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 |
| 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 |
| HIBCH | 3-hydroxyisobutryl-CoA hydrolase 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 |
| HIKESHI | Leukodystrophy, hypomyelinating, 13 | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |
| HINT1 | Neuromyotonia and axonal neuropathy, autosomal recessive | Autosomal recessive | Caucasian/European population | 1 in 766 | Reduced | Reduced | Reduced | Reduced | 1 in 3064 | Reduced | 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 |
| HK1 | Charcot-Marie-Tooth disease, type 4G | 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 |
| 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 |
| HMGCS2 | HMG-CoA synthase-2 deficiency | 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 |
| 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 |
| HMX1 | Oculoauricular syndrome | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |
| HNMT | Mental retardation, autosomal recessive, type 51 | 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 |
| HNRNPH2 | Mental retardation, X-linked, syndromic, Bain type | X-linked | General population | ≤1 in 500 | Reduced | Reduced | - | - | 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 |
| HOXA1 | Athabaskan brainstem dysgenesis 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 |
| HOXB1 | Facial paresis, hereditary congenital, 3 | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |
| HOXC13 | Ectodermal dysplasia 9, hair/nail type | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |
| HPCA | Dystonia 2, torsion, autosomal recessive | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 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 |
| HPGD | Hypertrophic osteoarthropathy, primary, type 1 (pachydermoperiostosis) | Autosomal recessive | General population | ≤1 in 500 | <1 in 3498 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 13990 | <1 in 2000 | <1 in 13990 | 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 |
| HPS4 | Hermansky-Pudlak syndrome 4 | Autosomal recessive | Caucasian/European population | 1 in 703 | 1 in 1756 | <1 in 1,000,000 | <1 in 1,000,000 | 1 in 7024 | 1 in 2812 | 1 in 7024 | 1 in 4 |
| HPS5 | Hermansky-Pudlak syndrome 5 | Autosomal recessive | Caucasian/European population | 1 in 89 | 1 in 210 | 1 in 74760 | 1 in 176400 | 1 in 840 | 1 in 356 | 1 in 840 | 1 in 4 |
| HPS6 | Hermansky-Pudlak syndrome 6 | Autosomal recessive | Caucasian/European population | 1 in 745 | 1 in 1043 | <1 in 1,000,000 | <1 in 1,000,000 | 1 in 4170 | 1 in 2980 | 1 in 4170 | 1 in 4 |
| HPSE2 | Urofacial syndrome, type 1 | 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 |
| HR | Alopecia universalis; Atrichia with papular lesions | 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 |
| HSD11B2 | Apparent mineralocorticoid excess | 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 |
| 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 |
| HSD3B7 | Bile acid synthesis defect, congenital, type 1 | 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 |
| HSPA9 | Even-plus syndrome | 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 |
| HSPD1 | Leukodystrophy, hypomyelinating, 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 |
| 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 |
| HTRA1 | CARASIL syndrome | Autosomal recessive | General population | ≤1 in 500 | <1 in 893 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 3572 | <1 in 2000 | <1 in 3572 | 1 in 4 |
| HTRA2 | 3-methylglutaconic aciduria, type 8 | 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 |
| HTT | Lopes-Maciel-Rodan syndrome | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |
| HUWE1 | Mental retardation, X-linked syndromic, Turner type | X-linked | General population | 1 in 50000 | 1 in 53846 | 1 in 215384 | - | - | 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 |
| HYDIN | Ciliary dyskinesia, primary, 5 | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 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 |
| HYOU1 | ?Immunodeficiency 59 and hypoglycemia | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |
| IARS1 | Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |
| IBA57 | Multiple mitochondrial dysfunctions syndrome 3 | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |
| ICOS | Immunodeficiency, common variable, 1 | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 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 |
| IER3IP1 | Microcephaly, epilepsy, and diabetes 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 |
| IFNGR1 | Immunodeficiency, type 27A, mycobacteriosis | Autosomal recessive | General population | ≤1 in 500 | <1 in 2249 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 8995 | <1 in 2000 | <1 in 8995 | 1 in 4 |
| IFNGR2 | Immunodeficiency, type 28, mycobacteriosis | 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 |
| IFT122 | Cranioectodermal dysplasia 1 | 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 |
| IFT140 | Retinitis pigmentosa, type 80; Short-rib thoracic dysplasia 9 with or without polydactyly | Autosomal recessive | Caucasian/European population | 1 in 381 | 1 in 533 | 1 in 812292 | <1 in 1,000,000 | 1 in 2132 | 1 in 1524 | 1 in 2132 | 1 in 4 |
| IFT172 | Short-rib thoracic dysplasia 10 with or without polydactyly | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |
| IFT43 | Short-rib thoracic dysplasia 18 with polydactyly | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |
| IFT52 | Short-rib thoracic dysplasia 16 with or without polydactyly | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |
| IFT80 | Short-rib thoracic dysplasia, type 2, with or without polydactyly | 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 |
| IFT81 | Short-rib thoracic dysplasia 19 with or without polydactyly | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |
| IGBP1 | Corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia | X-linked | General population | ≤1 in 500 | Reduced | Reduced | - | - | 1 in 4 | - | - |
| IGF1 | Growth retardation with deafness and mental retardation due to IGF1 deficiency | 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 |
| IGF1R | Insulin-like growth factor I, resistance to | Autosomal recessive* | General population | ≤1 in 500 | <1 in 569 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 2274 | <1 in 2000 | <1 in 2274 | 1 in 4 |
| IGFALS | Acid-labile subunit 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 |
| IGFBP7 | Retinal arterial macroaneurysm with supravalvular pulmonic stenosis | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |
| IGHM | Agammaglobulinemia 1 | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 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 |
| IGKC | Kappa light chain deficiency | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |
| IGLL1 | Agammaglobulinemia 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 |
| IGSF1 | Hypothyroidism, central, and testicular enlargement | X-linked | General population | ≤1 in 500 | Reduced | Reduced | - | - | 1 in 4 | - | - |
| IHH | Acrocapitofemoral dysplasia | 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 |
| IKBKB | Immunodeficiency 15 | Autosomal recessive | Caucasian/European population | 1 in 324 | Reduced | Reduced | Reduced | Reduced | 1 in 1296 | Reduced | 1 in 4 |
| IKBKG | Immunodeficiency, type 33 | X-linked | General population | ≤1 in 500 | <1 in 510870 | <1 in 1,000,000 | - | - | 1 in 4 | - | - |
| IL10RA | Inflammatory bowel disease, type 28, early onset, autosomal recessive | 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 |
| IL10RB | Inflammatory bowel disease, type 25, early onset, autosomal recessive | 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 |
| IL11RA | Craniosynostosis and dental anomalies | 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 |
| IL12B | Immunodeficiency, type 29, mycobacteriosis | 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 |
| IL12RB1 | Immunodeficiency, type 30 | Autosomal recessive | General population | ≤1 in 500 | <1 in 657 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 2626 | <1 in 2000 | <1 in 2626 | 1 in 4 |
| IL17RA | Immunodeficiency, type 51 | 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 |
| IL17RC | Candidiasis, familial, 9 | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 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 | - - - - - | - - - - - |
| IL1RN | Sterile multifocal osteomyelitis with periostitis and pustulosis | 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 |
| IL21R | Immunodeficiency, type 56 | 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 |
| IL2RA | Immunodeficiency, type 41 with lymphoproliferation and autoimmunity | Autosomal recessive | Caucasian/European population | 1 in 11327 | 1 in 22653 | <1 in 1,000,000 | <1 in 1,000,000 | 1 in 90612 | 1 in 45308 | 1 in 90612 | 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 | - - - - - | - - - - - |
| IL36RN | Psoriasis, type 14, pustular | 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 |
| IL7R | Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type | Autosomal recessive | Caucasian/European population | 1 in 522 | 1 in 783 | <1 in 1,000,000 | <1 in 1,000,000 | 1 in 3130 | 1 in 2088 | 1 in 3130 | 1 in 4 |
| ILDR1 | Deafness, autosomal recessive, type 42 | 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 |
| IMPA1 | Mental retardation, autosomal recessive 59 | 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 |
| IMPG2 | Retinitis pigmentosa, type 56 | 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 |
| INPP5E | Joubert syndrome, type 1 | Autosomal recessive | Caucasian/European population | 1 in 156 | 1 in 401 | 1 in 250484 | 1 in 644541 | 1 in 1606 | 1 in 624 | 1 in 1606 | 1 in 4 |
| INPP5K | Muscular dystrophy, congenital, with cataracts and intellectual disability | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |
| INPPL1 | Opsismodysplasia | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |
| INS | Permanent neonatal diabetes mellitus (PNDM) | Autosomal recessive* | General population | ≤1 in 500 | <1 in 2061 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 8246 | <1 in 2000 | <1 in 8246 | 1 in 4 |
| INSR | Diabetes mellitus, insulin-resistant, with acanthosis nigricans, type A | Autosomal recessive | General population | ≤1 in 500 | <1 in 1576 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 6305 | <1 in 2000 | <1 in 6305 | 1 in 4 |
| INTS1 | Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |
| INVS | Nephronophthisis, type 2, infantile | 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 |
| IQCB1 | Senior-Loken syndrome, 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 |
| IQCE | Polydactyly, postaxial, type A7 | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |
| IQSEC2 | Mental retardation, X-linked, type 1/78 | X-linked | General population | 1 in 45000 | 1 in 57328 | 1 in 229314 | - | - | 1 in 4 | - | - |
| IRAK4 | IRAK4 deficiency | 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 |
| IRF8 | Immunodeficiency, type 32B, monocyte and dendritic cell deficiency, autosomal recessive | 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 |
| IRS4 | Hypothyroidism, congenital, nongoitrous, 9 | X-linked | General population | ≤1 in 500 | Reduced | Reduced | - | - | 1 in 4 | - | - |
| IRX5 | Hamamy syndrome | 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 |
| ISCA1 | Multiple mitochondrial dysfunctions syndrome 5 | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |
| ISCA2 | Multiple mitochondrial dysfunctions syndrome 4 | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |
| ISCU | Myopathy with lactic acidosis, hereditary | 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 |
| ISG15 | Immunodeficiency 38 | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |
| ITCH | Autoimmune disease, multisystem, with facial dysmorphism | 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 |
| ITGA2B | Glanzmann thrombasthenia | Autosomal recessive | General population | ≤1 in 500 | <1 in 573 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 2292 | <1 in 2000 | <1 in 2292 | 1 in 4 |
| ITGA3 | Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital | 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 |
| ITGA6 | Epidermolysis bullosa, junctional, with pyloric stenosis | 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 |
| ITGA7 | Muscular dystrophy, congenital, due to ITGA7 deficiency | Autosomal recessive | General population | ≤1 in 500 | <1 in 792 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 3168 | <1 in 2000 | <1 in 3168 | 1 in 4 |
| ITGA8 | Renal hypodysplasia/aplasia 1 | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |
| ITGB2 | Leukocyte adhesion deficiency | Autosomal recessive | General population | ≤1 in 500 | <1 in 1392 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 5570 | <1 in 2000 | <1 in 5570 | 1 in 4 |
| ITGB3 | Glanzmann thrombasthenia | Autosomal recessive | General population | ≤1 in 500 | <1 in 706 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 2825 | <1 in 2000 | <1 in 2825 | 1 in 4 |
| ITGB4 | Epidermolysis bullosa, junctional, with pyloric atresia | Autosomal recessive | General population | ≤1 in 500 | <1 in 3831 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 15322 | <1 in 2000 | <1 in 15322 | 1 in 4 |
| ITGB6 | Amelogenesis imperfecta, type 1H | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |
| ITK | Lymphoproliferative syndrome 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 |
| ITPA | Epileptic encephalopathy, early infantile, type 35 | Autosomal recessive | Caucasian/European population | 1 in 2093 | 1 in 2616 | <1 in 1,000,000 | <1 in 1,000,000 | 1 in 10464 | 1 in 8372 | 1 in 10464 | 1 in 4 |
| ITPR1 | Gillespie syndrome | Autosomal recessive* | General population | ≤1 in 500 | <1 in 825 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 3301 | <1 in 2000 | <1 in 3301 | 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 |
| JAGN1 | Neutropenia, severe congenital, 6, autosomal recessive | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 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 |
| JAM3 | Hemorrhagic destruction of the brain, subependymal calcification, and cataracts | 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 |
| JUP | Naxos disease | 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 |
| KANK2 | Nephrotic syndrome, type 16 | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |
| KARS1 | Deafness, autosomal recessive, type 89 | 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 |
| KATNB1 | Lissencephaly 6, with microcephaly | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |
| KATNIP | Joubert syndrome 26 | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |
| KCNE1 | Jervell and Lange-Nielsen syndrome 2 | Autosomal recessive | General population | ≤1 in 500 | <1 in 591 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 2365 | <1 in 2000 | <1 in 2365 | 1 in 4 |
| KCNJ1 | Bartter syndrome, type 2 | Autosomal recessive | Caucasian/European population | 1 in 1167 | 1 in 3110 | <1 in 1,000,000 | <1 in 1,000,000 | 1 in 12441 | 1 in 4668 | 1 in 12441 | 1 in 4 |
| KCNJ10 | SESAME syndrome | Autosomal recessive | General population | ≤1 in 500 | <1 in 938 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 3750 | <1 in 2000 | <1 in 3750 | 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 |
| KCNJ13 | Leber congenital amaurosis, type 16 | Autosomal recessive | General population | ≤1 in 500 | <1 in 643 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 2573 | <1 in 2000 | <1 in 2573 | 1 in 4 |
| KCNV2 | Retinal cone dystrophy, type 3B | Autosomal recessive | General population | ≤1 in 500 | <1 in 720 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 2881 | <1 in 2000 | <1 in 2881 | 1 in 4 |
| KCTD7 | Epilepsy, progressive myoclonic, type 3, with or without intracellular inclusions | Autosomal recessive | Caucasian/European population | 1 in 1083 | 1 in 1840 | <1 in 1,000,000 | <1 in 1,000,000 | 1 in 7362 | 1 in 4332 | 1 in 7362 | 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 | - - - - - | - - - - - |
| KDM6A | Kabuki syndrome, type 2 | X-linked | General population | ≤1 in 500 | <1 in 800000 | <1 in 1,000,000 | - | - | 1 in 4 | - | - |
| KDSR | Erythrokeratodermia variabilis et progressiva 4 | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |
| KERA | Cornea plana 2, 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 |
| KHDC3L | Hydatidiform mole, recurrent, 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 |
| KIAA0586 | Short-rib thoracic dysplasia 14 with polydactyly | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |
| KIAA0753 | ?Orofaciodigital syndrome, type 15 | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |
| KIAA1109 | Alkuraya-Kucinskas syndrome | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |
| KIAA1549 | Retinitis pigmentosa, type 86 | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |
| KIF14 | Microcephaly 20, primary, autosomal recessive | Autosomal recessive | Caucasian/European population | 1 in 1010 | Reduced | Reduced | Reduced | Reduced | 1 in 4040 | Reduced | 1 in 4 |
| KIF1A | Neuropathy, hereditary sensory, type 2C; Spastic paraplegia, type 30, autosomal recessive | Autosomal recessive | General population | ≤1 in 500 | <1 in 849 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 3396 | <1 in 2000 | <1 in 3396 | 1 in 4 |
| KIF1C | Spastic ataxia 2, autosomal recessive | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |
| KIF7 | Acrocallosal syndrome; Joubert syndrome, type 12 | Autosomal recessive | General population | ≤1 in 500 | <1 in 2332 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 9328 | <1 in 2000 | <1 in 9328 | 1 in 4 |
| KIFBP | Goldberg-Shprintzen megacolon 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 |
| KISS1R | Hypogonadotropic hypogonadism, type 8, with or without anosmia | 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 |
| KIZ | Retinitis pigmentosa 69 | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |
| KLC2 | Spastic paraplegia, optic atrophy, and neuropathy | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |
| KLHL15 | Mental retardation, X-linked 103 | X-linked | General population | ≤1 in 500 | Reduced | Reduced | - | - | 1 in 4 | - | - |
| KLHL3 | Pseudohypoaldosteronism, type 2D | 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 |
| KLHL40 | Nemaline myopathy 8, autosomal recessive | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |
| KLHL41 | Nemaline myopathy 9 | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |
| KLHL7 | Cold-induced sweating syndrome 3 | 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 |
| KLK4 | Amelogenesis imperfecta, type 2A1 (hypomaturation type) | 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 |
| KLKB1 | Fletcher factor (prekallikrein) 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 |
| KNL1 | Microcephaly 4, primary, autosomal recessive | Autosomal recessive | General population | ≤1 in 500 | <1 in 546 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 2184 | <1 in 2000 | <1 in 2184 | 1 in 4 |
| KPTN | Mental retardation, autosomal recessive 41 | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |
| KREMEN1 | Ectodermal dysplasia 13, hair/tooth type | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |
| KRT10 | Epidermolytic hyperkeratosis | Autosomal recessive* | General population | ≤1 in 500 | <1 in 2099 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 8396 | <1 in 2000 | <1 in 8396 | 1 in 4 |
| KRT14 | Epidermolysis bullosa simplex, autosomal recessive, 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 |
| KRT18 | Cirrhosis, cryptogenic | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |
| KRT25 | Woolly hair, autosomal recessive 3 | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |
| KRT5 | Epidermolysis bullosa simplex, autosomal recessive, type 1 | Autosomal recessive | General population | ≤1 in 500 | <1 in 771 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 3084 | <1 in 2000 | <1 in 3084 | 1 in 4 |
| KRT8 | Cirrhosis, cryptogenic | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |
| KRT83 | Erythrokeratodermia variabilis et progressiva 5 | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |
| KRT85 | Ectodermal dysplasia 4, hair/nail type | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |
| KY | Myopathy, myofibrillar, 7 | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |
| KYNU | Vertebral, cardiac, renal, and limb defects syndrome, type 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 |
| 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 | - - - - - | - - - - - |
| L2HGDH | L-2-hydroxyglutaric aciduria | Autosomal recessive | General population | ≤1 in 500 | <1 in 2124 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 8496 | <1 in 2000 | <1 in 8496 | 1 in 4 |
| LAGE3 | Galloway-Mowat syndrome 2, X-linked | X-linked | General population | ≤1 in 500 | Reduced | Reduced | - | - | 1 in 4 | - | - |
| LAMA1 | Poretti-Boltshauser syndrome | Autosomal recessive | General population | ≤1 in 500 | <1 in 1178 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 4714 | <1 in 2000 | <1 in 4714 | 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 |
| LAMB1 | Lissencephaly, type 5 | 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 |
| LAMB2 | Pierson syndrome; Nephrotic syndrome, type 5, with or without ocular abnormalities | Autosomal recessive | General population | <1 in 500 | <1 in 1200 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 4799 | <1 in 2000 | <1 in 4799 | 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 |
| LAMC3 | Cortical malformations, occipital | Autosomal recessive | General population | ≤1 in 500 | <1 in 643 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 2573 | <1 in 2000 | <1 in 2573 | 1 in 4 |
| LAMP2 | Danon disease | X-linked | General population | ≤1 in 500 | <1 in 1649999 | <1 in 1,000,000 | - | - | 1 in 4 | - | - |
| LAMTOR2 | Immunodeficiency due to defect in MAPBP-interacting protein | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 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 |
| LARP7 | Alazami syndrome | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |
| LARS1 | ?Infantile liver failure syndrome 1 | Autosomal recessive | Caucasian/European population | 1 in 1000 | Reduced | Reduced | Reduced | Reduced | 1 in 4000 | Reduced | 1 in 4 |
| LARS2 | Perrault syndrome, type 4 | 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 |
| LAS1L | Wilson-Turner syndrome | X-linked | General population | ≤1 in 500 | Reduced | Reduced | - | - | 1 in 4 | - | - |
| LAT | Immunodeficiency 52 | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |
| LBR | Greenberg skeletal dysplasia | 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 |
| 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 |
| LCAT | Familial LCAT deficiency; Fish-eye disease | Autosomal recessive | General population | ≤1 in 500 | <1 in 1357 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 5427 | <1 in 2000 | <1 in 5427 | 1 in 4 |
| LCK | ?Immunodeficiency 22 | Autosomal recessive | Caucasian/European population | 1 in 3606 | Reduced | Reduced | Reduced | Reduced | 1 in 14424 | Reduced | 1 in 4 |
| LCT | Lactase deficiency, congenital | 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 |
| LDHA | Glycogen storage disease type 11 | 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 |
| LDLRAP1 | Hypercholesterolemia, familial, autosomal recessive | Autosomal recessive | Caucasian/European population | 1 in 2721 | 1 in 3710 | <1 in 1,000,000 | <1 in 1,000,000 | 1 in 14840 | 1 in 10884 | 1 in 14840 | 1 in 4 |
| LEMD2 | Cataract 46, juvenile-onset | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |
| LEP | Obesity, morbid, due to leptin 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 |
| LEPR | Obesity, morbid, due to leptin receptor 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 |
| LGI4 | Arthrogryposis multiplex congenita, neurogenic, with myelin defect | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |
| LHB | Hypogonadotropic hypogonadism, type 23, with or without anosmia | 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 |
| 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 |
| LHFPL5 | Deafness, autosomal recessive type 67 | 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 |
| 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 |
| LIAS | Hyperglycinemia, lactic acidosis, and seizures | 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 |
| 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 |
| LIG4 | LIG4 syndrome | Autosomal recessive | Caucasian/European population | 1 in 580 | 1 in 1114 | <1 in 1,000,000 | <1 in 1,000,000 | 1 in 4458 | 1 in 2320 | 1 in 4458 | 1 in 4 |
| LIM2 | Cataract 19, multiple types | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |
| LIMS2 | ?Muscular dystrophy, autosomal recessive, with cardiomyopathy and triangular tongue | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |
| LINS1 | Mental retardation, autosomal recessive, type 27 | 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 |
| 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 |
| LIPC | Hepatic lipase deficiency | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |
| LIPE | Lipodystrophy, familial partial, 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 |
| 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 |
| LIPN | Ichthyosis, congenital, autosomal recessive 8 | Autosomal recessive | Caucasian/European population | 1 in 335 | Reduced | Reduced | Reduced | Reduced | 1 in 1340 | Reduced | 1 in 4 |
| LIPT1 | Lipoyltransferase 1 deficiency | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |
| LIPT2 | Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |
| LMAN1 | Combined deficiency of factor V and factor VIII, type 1 | 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 |
| LMBR1 | Acheiropody | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 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 |
| LMF1 | Lipase deficiency, combined | 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 |
| LMNA | LMNA-related disorders, autosomal recessive | Autosomal recessive | General population | 1 in 374 | 1 in 389 | 1 in 582766 | 1 in 606027 | 1 in 1557 | 1 in 1497 | 1 in 1557 | 1 in 4 |
| LMOD3 | Nemaline myopathy 10 | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |
| LONP1 | CODAS syndrome | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 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 |
| LPAR6 | Hypotrichosis, type 8 or woolly hair, autosomal recessive, type 1, with or without hypotrichosis | 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 |
| LPIN1 | Myoglobinuria, acute recurrent, autosomal recessive | 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 |
| LPIN2 | Majeed syndrome | 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 |
| 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 |
| LRAT | Leber congenital amaurosis type 14 | Autosomal recessive | Caucasian/European population | 1 in 7035 | 1 in 11431 | <1 in 1,000,000 | <1 in 1,000,000 | 1 in 45725 | 1 in 28140 | 1 in 45725 | 1 in 4 |
| LRBA | Immunodeficiency, common variable, 8, with autoimmunity | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |
| LRIG2 | Urofacial syndrome 2 | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |
| LRIT3 | Night blindness, congenital stationary (complete), 1F, autosomal recessive | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |
| LRMDA | Albinism, oculocutaneous, type 7 | 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 |
| LRP2 | Donnai-Barrow syndrome | Autosomal recessive | Caucasian/European population | 1 in 260 | 1 in 1253 | <1 in 1,000,000 | <1 in 1,000,000 | 1 in 5011 | 1 in 1040 | 1 in 5011 | 1 in 4 |
| LRP4 | Cenani-Lenz syndactyly syndrome | 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 |
| LRP5 | Osteoporosis-pseudoglioma syndrome | Autosomal recessive | General population | ≤1 in 500 | <1 in 1177 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 4709 | <1 in 2000 | <1 in 4709 | 1 in 4 |
| LRPAP1 | Myopia, type 23, 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 |
| 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 |
| LRRC6 | Ciliary dyskinesia, primary, type 19 | 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 |
| LRSAM1 | Charcot-Marie-Tooth disease, axonal, type 2P | Autosomal recessive | General population | ≤1 in 500 | <1 in 646 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 2585 | <1 in 2000 | <1 in 2585 | 1 in 4 |
| LRTOMT | Deafness, autosomal recessive type 63 | 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 |
| LSS | Cataract 44 | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |
| LTBP2 | Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma | Autosomal recessive | General population | 1 in 80 | 1 in 174 | 1 in 55498 | 1 in 121259 | 1 in 696 | 1 in 319 | 1 in 696 | 1 in 4 |
| LTBP3 | Dental anomalies and short stature | 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 |
| LTBP4 | Cutis laxa, autosomal recessive, type 1C | Autosomal recessive | Caucasian/European population | 1 in 64 | 1 in 118 | 1 in 30208 | 1 in 55696 | 1 in 472 | 1 in 256 | 1 in 472 | 1 in 4 |
| LTC4S | Leukotriene C4 synthase deficiency | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |
| LYRM7 | Mitochondrial complex III deficiency, nuclear type 8 | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 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 |
| LZTFL1 | Bardet-Biedl syndrome, type 17 | 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 |
| LZTR1 | Noonan syndrome, type 2 | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |
| MAG | Spastic paraplegia 75, autosomal recessive | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |
| MAGED2 | Bartter syndrome, type 5, antenatal, transient | X-linked | General population | ≤1 in 500 | Reduced | Reduced | - | - | 1 in 4 | - | - |
| MAGI2 | Nephrotic syndrome, type 15 | 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 |
| MAGT1 | Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia | X-linked | General population | <1 in 500,000 | <1 in 558824 | <1 in 1,000,000 | - | - | 1 in 4 | - | - |
| MAK | Retinitis pigmentosa type 62 | Autosomal recessive | Caucasian/European population | 1 in 1010 | 1 in 1709 | <1 in 1,000,000 | <1 in 1,000,000 | 1 in 6834 | 1 in 4040 | 1 in 6834 | 1 in 4 |
| MALT1 | Immunodeficiency 12 | Autosomal recessive | Caucasian/European population | 1 in 680 | Reduced | Reduced | Reduced | Reduced | 1 in 2720 | Reduced | 1 in 4 |
| MAMLD1 | Hypospadias 2, X-linked | X-linked | General population | ≤1 in 500 | <1 in 49999951 | <1 in 1,000,000 | - | - | 1 in 4 | - | - |
| MAN1B1 | Mental retardation, autosomal recessive, type 15 | 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 |
| 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 |
| MAOA | Brunner syndrome | X-linked | General population | ≤1 in 500 | <1 in 1000000 | <1 in 1,000,000 | - | - | 1 in 4 | - | - |
| MAP3K20 | Centronuclear myopathy 6 with fiber-type disproportion | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |
| MAPKBP1 | Nephronophthisis 20 | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |
| MAPT | Supranuclear palsy, progressive atypical (parkinsonism syndrome) | 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 |
| MARS1 | Interstitial lung and liver disease | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |
| MARS2 | Spastic ataxia, type 3, 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 |
| MARVELD2 | Deafness, autosomal recessive type 49 | 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 |
| MASP1 | 3MC syndrome 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 |
| MASP2 | MASP2 deficiency | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 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 |
| MATN3 | ?Spondyloepimetaphyseal dysplasia | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |
| MBOAT7 | Mental retardation, autosomal recessive 57 | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |
| MBTPS2 | IFAP/BRESHECK syndrome; Osteogenesis imperfecta, type 19 | X-linked | General population | ≤1 in 500 | <1 in 1375000 | <1 in 1,000,000 | - | - | 1 in 4 | - | - |
| MC2R | Glucocorticoid deficiency, due to ACTH unresponsiveness | 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 |
| 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 |
| MCFD2 | Combined deficiency of factor V and factor VIII, type 2 | 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 |
| MCIDAS | Ciliary dyskinesia, primary, 42 | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |
| MCM3AP | Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development | Autosomal recessive | General population | ≤1 in 500 | <1 in 643 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 2573 | <1 in 2000 | <1 in 2573 | 1 in 4 |
| MCM4 | Immunodeficiency 54 | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |
| MCM9 | Ovarian dysgenesis 4 | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 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 |
| MCPH1 | Microcephaly type 1, primary, autosomal recessive | 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 |
| MDH2 | Epileptic encephalopathy, early infantile, 51 | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 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 | - - - - - | - - - - - |
| MECR | Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |
| MED12 | Lujan-Fryns syndrome | X-linked | General population | ≤1 in 500 | <1 in 629630 | <1 in 1,000,000 | - | - | 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 |
| MED23 | Mental retardation, autosomal recessive, type 18 | 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 |
| MED25 | Basel-Vanagait-Smirin-Yosef syndrome | 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 |
| 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 |
| MEGF10 | Myopathy, areflexia, respiratory distress, and dysphagia, early-onset | Autosomal recessive | General population | ≤1 in 500 | <1 in 1642 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 6569 | <1 in 2000 | <1 in 6569 | 1 in 4 |
| MEGF8 | Carpenter syndrome 2 | Autosomal recessive | Caucasian/European population | 1 in 375 | Reduced | Reduced | Reduced | Reduced | 1 in 1500 | Reduced | 1 in 4 |
| MEOX1 | Klippel-Feil syndrome 2 | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |
| MERTK | Retinitis pigmentosa type 38 | Autosomal recessive | General population | ≤1 in 500 | <1 in 730 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 2920 | <1 in 2000 | <1 in 2920 | 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 |
| METTL23 | Mental retardation, autosomal recessive 44 | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |
| MFF | Encephalopathy due to defective mitochondrial and peroxisomal fission, type 2 | 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 |
| MFN2 | Charcot-Marie-Tooth disease, axonal, type 2A2B | Autosomal recessive | General population | ≤1 in 500 | <1 in 951 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 3804 | <1 in 2000 | <1 in 3804 | 1 in 4 |
| MFRP | Microphthalmia, isolated type 5 | Autosomal recessive | General population | ≤1 in 500 | <1 in 1363 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 5453 | <1 in 2000 | <1 in 5453 | 1 in 4 |
| MFSD2A | Microcephaly 15, primary, autosomal recessive | 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 |
| 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 |
| MGAT2 | Congenital disorder of glycosylation, type 2a | 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 |
| MGME1 | Mitochondrial DNA depletion syndrome 11 | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |
| MGP | Keutel syndrome | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |
| MICU1 | Myopathy with extrapyramidal signs | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |
| MID1 | Opitz GBBB syndrome, type 1 | X-linked | General population | ≤1 in 500 | <1 in 964286 | <1 in 1,000,000 | - | - | 1 in 4 | - | - |
| MIPEP | Combined oxidative phosphorylation deficiency 31 | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |
| MITF | COMMAD syndrome | Autosomal recessive | General population | ≤1 in 500 | <1 in 905 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 3619 | <1 in 2000 | <1 in 3619 | 1 in 4 |
| MKKS | Bardet-Biedl syndrome type 6 | Autosomal recessive | Caucasian/European population | 1 in 49 | 1 in 76 | 1 in 14922 | 1 in 23183 | 1 in 305 | 1 in 196 | 1 in 305 | 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 |
| MLPH | Griscelli syndrome, 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 |
| 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 |
| MME | Charcot-Marie-Tooth disease, axonal, type 2T | Autosomal recessive* | General population | ≤1 in 500 | <1 in 792 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 3168 | <1 in 2000 | <1 in 3168 | 1 in 4 |
| MMP1 | {Epidermolysis bullosa dystrophica, autosomal recessive, modifier of} | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |
| MMP13 | Metaphyseal dysplasia, Spahr 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 |
| MMP2 | Multicentric osteolysis, nodulosis, and arthropathy (MONA) | 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 |
| MMP20 | Amelogenesis imperfecta, type 2A2 (hypomaturation type) | 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 |
| MMP21 | Heterotaxy, visceral, 7, autosomal | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |
| MMP9 | Metaphyseal anadysplasia 2 | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 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 |
| MOCOS | Xanthinuria, type 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 |
| MOCS1 | Molybdenum cofactor deficiency A | 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 |
| MOCS2 | Molybdenum cofactor deficiency B | 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 |
| 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 |
| MPC1 | Mitochondrial pyruvate carrier deficiency | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |
| MPDU1 | Congenital disorder of glycosylation, type 1F | 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 |
| MPDZ | Hydrocephalus, congenital, type 2, with or without brain or eye anomalies | Autosomal recessive | General population | ≤1 in 500 | <1 in 945 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 3778 | <1 in 2000 | <1 in 3778 | 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 |
| MPIG6B | Thrombocytopenia, anemia, and myelofibrosis | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 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 |
| MPLKIP | Trichothiodystrophy, type 4, nonphotosensitive | 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 |
| MPO | Myeloperoxidase deficiency | 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 |
| 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 |
| MPZ | Dejerine-Sottas disease | Autosomal recessive* | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |
| MRAP | Glucocorticoid deficiency, 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 |
| MRE11 | Ataxia-telangiectasia-like disorder 1 | Autosomal recessive | General Population | 1 in 500 | 1 in 1099 | <1 in 1,000,000 | <1 in 1,000,000 | 1 in 4395 | 1 in 2000 | 1 in 4395 | 1 in 4 |
| MRPL3 | Combined oxidative phosphorylation deficiency 9 | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |
| MRPS16 | Combined oxidative phosphorylation deficiency 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 |
| MRPS2 | Combined oxidative phosphorylation deficiency 36 | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |
| MRPS22 | Combined oxidative phosphorylation deficiency type 5 | 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 |
| MRPS34 | Combined oxidative phosphorylation deficiency 32 | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |
| MS4A1 | Immunodeficiency, common variable, 5 | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |
| MSH3 | Familial adenomatous polyposis, type 4 | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |
| MSMO1 | Microcephaly, congenital cataract, and psoriasiform dermatitis | 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 |
| MSN | Immunodeficiency 50 | X-linked | General population | ≤1 in 500 | Reduced | Reduced | - | - | 1 in 4 | - | - |
| MSRB3 | Deafness, autosomal recessive, type 74 | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |
| MSTN | Muscle hypertrophy | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |
| MSTO1 | Myopathy, mitochondrial, and ataxia | Autosomal recessive* | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |
| MTFMT | Combined oxidative phosphorylation deficiency 15 | 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 |
| MTHFD1 | Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia | Autosomal recessive | Caucasian/European population | 1 in 201 | 1 in 258 | 1 in 207547 | 1 in 266551 | 1 in 1033 | 1 in 804 | 1 in 1033 | 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 |
| MTO1 | Combined oxidative phosphorylation deficiency 10 | 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 |
| 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 |
| MUSK | Fetal akinesia deformation sequence, type 1; Myasthenic syndrome, congenital, type 9, associated with acetylcholine receptor deficiency | Autosomal recessive | General population | <1 in 500 | <1 in 818 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 3273 | <1 in 2000 | <1 in 3273 | 1 in 4 |
| MUTYH | Adenomas, multiple colorectal | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 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 |
| MYBPC1 | Lethal congenital contracture syndrome, type 4 | 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 |
| MYD88 | Pyogenic bacterial infections, recurrent, due to MYD88 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 |
| MYH2 | Proximal myopathy and ophthalmoplegia | Autosomal recessive | General population | ≤1 in 500 | <1 in 950 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 3800 | <1 in 2000 | <1 in 3800 | 1 in 4 |
| MYMK | Carey-Fineman-Ziter syndrome | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 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 |
| MYO18B | Klippel-Feil syndrome, type 4, autosomal recessive, with myopathy and facial dysmorphism | Autosomal recessive | General population | ≤1 in 500 | <1 in 584 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 2335 | <1 in 2000 | <1 in 2335 | 1 in 4 |
| MYO1E | Glomerulosclerosis, focal segmental, 6 | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |
| MYO3A | Deafness, autosomal recessive type 30 | 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 |
| MYO5A | Griscelli syndrome, type 1 | 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 |
| MYO5B | Microvillus inclusion disease | 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 |
| MYO6 | Deafness, autosomal recessive type 37 | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 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 |
| MYPN | Nemaline myopathy, type 11, 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 |
| NAA10 | Ogden syndrome | X-linked | General population | ≤1 in 500 | <1 in 909091 | <1 in 1,000,000 | - | - | 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 |
| NAGA | Schindler disease, type I | 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 |
| 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 |
| NALCN | Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |
| NANS | Spondyloepimetaphyseal dysplasia, Camera-Genevieve type | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |
| NARS2 | Combined oxidative phosphorylation deficiency 24 | Autosomal recessive | General population | ≤1 in 500 | <1 in 693 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 2770 | <1 in 2000 | <1 in 2770 | 1 in 4 |
| NAXE | Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |
| NBAS | Infantile liver failure syndrome, type 2; Short stature, optic nerve atrophy, and Pelger-Huet anomaly | Autosomal recessive | Caucasian/European population | 1 in 228 | 1 in 342 | 1 in 311448 | 1 in 466489 | 1 in 1366 | 1 in 912 | 1 in 1366 | 1 in 4 |
| NBEAL2 | Gray platelet syndrome | 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 |
| 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 |
| NCAPD3 | Microcephaly 22, primary, autosomal recessive | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 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 |
| NCF4 | Chronic granulomatous disease, type 3 | Autosomal recessive | Caucasian/European population | 1 in 540 | Reduced | Reduced | Reduced | Reduced | 1 in 2160 | Reduced | 1 in 4 |
| NDE1 | Lissencephaly, type 4 (with microcephaly) | 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 |
| 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 |
| NDST1 | Mental retardation, autosomal recessive, type 46 | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |
| NDUFA1 | Mitochondrial complex I deficiency | X-linked | General population | ≤1 in 500 | Reduced | Reduced | - | - | 1 in 4 | - | - |
| NDUFA10 | Mitochondrial complex I deficiency, nuclear type 22 | 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 |
| NDUFA11 | Mitochondrial complex I deficiency, nuclear type 14 | 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 |
| NDUFA12 | ?Mitochondrial complex I deficiency, nuclear type 23 | 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 |
| NDUFA2 | Mitochondrial complex I deficiency, nuclear type 13 | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |
| NDUFA9 | Mitochondrial complex I deficiency, nuclear type 26 | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |
| NDUFAF1 | Mitochondrial complex I deficiency, nuclear type 11 | 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 |
| 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 |
| NDUFAF3 | Mitochondrial complex I deficiency, nuclear type 18 | 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 |
| NDUFAF4 | Mitochondrial complex I deficiency, AR | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 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 |
| NDUFAF6 | Mitochondrial complex I deficiency, nuclear type 17 | 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 |
| NDUFB11 | Linear skin defects with multiple congenital anomalies, type 3; ?Mitochondrial complex I deficiency | X-linked | General population | ≤1 in 500 | Reduced | Reduced | - | - | 1 in 4 | - | - |
| NDUFB3 | Mitochondrial complex I deficiency, nuclear type 25 | 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 |
| NDUFB9 | Mitochondrial complex I deficiency, AR | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |
| NDUFS1 | Mitochondrial complex I deficiency, nuclear type 5 | Autosomal recessive | General population | ≤1 in 500 | <1 in 806 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 3223 | <1 in 2000 | <1 in 3223 | 1 in 4 |
| NDUFS2 | Mitochondrial complex I deficiency, nuclear type 6 | 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 |
| NDUFS3 | Mitochondrial complex I deficiency, nuclear type 8 | 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 |
| 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 |
| NDUFS8 | Mitochondrial complex I deficiency, nuclear type 2 | 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 |
| 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 |
| NDUFV2 | Mitochondrial complex I deficiency, AR | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 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 |
| NECTIN1 | Cleft lip/palate-ectodermal dysplasia syndrome; Orofacial cleft 7 | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |
| NECTIN4 | Ectodermal dysplasia-syndactyly syndrome, type 1 | Autosomal recessive | General population | ≤1 in 500 | <1 in 3498 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 13990 | <1 in 2000 | <1 in 13990 | 1 in 4 |
| NEFL | Charcot-Marie-Tooth disease, type 1F | 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 |
| NEK1 | Short-rib thoracic dysplasia, type 6, with or without polydactyly | Autosomal recessive | General population | ≤1 in 500 | <1 in 2299 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 9195 | <1 in 2000 | <1 in 9195 | 1 in 4 |
| NEK8 | Renal-hepatic-pancreatic dysplasia, type 2 | Autosomal recessive | General population | ≤1 in 500 | <1 in 938 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 3750 | <1 in 2000 | <1 in 3750 | 1 in 4 |
| NEK9 | Lethal congenital contracture syndrome 10 | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 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 |
| NEUROG3 | Diarrhea type 4, malabsorptive, congenital | 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 |
| NEXMIF | Mental retardation, X-linked 98 | X-linked | General population | ≤1 in 500 | Reduced | Reduced | - | - | 1 in 4 | - | - |
| NFU1 | Multiple mitochondrial dysfunctions syndrome 1 | 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 |
| NGF | Neuropathy, hereditary sensory and autonomic, type 5 | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |
| NGLY1 | Congenital disorder of deglycosylation | Autosomal recessive | Caucasian/European population | 1 in 610 | Reduced | Reduced | Reduced | Reduced | 1 in 2440 | Reduced | 1 in 4 |
| NHEJ1 | Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation | Autosomal recessive | Caucasian/European population | 1 in 2750 | 1 in 10310 | <1 in 1,000,000 | <1 in 1,000,000 | 1 in 41239 | 1 in 11000 | 1 in 41239 | 1 in 4 |
| NHLRC1 | Epilepsy, progressive myoclonic, type 2B (Lafora) | Autosomal recessive | General population | ≤1 in 500 | <1 in 761 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 3044 | <1 in 2000 | <1 in 3044 | 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 |
| NHS | Cataract 40, X-linked | X-linked | General population | ≤1 in 500 | <1 in 880953 | <1 in 1,000,000 | - | - | 1 in 4 | - | - |
| NIN | Seckel syndrome, type 7 | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |
| NIPAL4 | Ichthyosis, congenital, autosomal recessive, type 6 | Autosomal recessive | Caucasian/European population | 1 in 372 | 1 in 418 | 1 in 622542 | 1 in 700151 | 1 in 1674 | 1 in 1488 | 1 in 1674 | 1 in 4 |
| NKX2-6 | Conotruncal heart malformations | 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 |
| NKX3-2 | Spondylo-megaepiphyseal-metaphyseal dysplasia | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |
| NKX6-2 | Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |
| NLGN4X | Mental retardation, X-linked | X-linked, Multifactorial, Isolated cases | General population | 1 in 45000 | 1 in 67500 | 1 in 269998 | - | - | 1 in 4 | - | - |
| NLRP1 | Autoinflammation with arthritis and dyskeratosis | 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 |
| 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 |
| NME8 | Ciliary dyskinesia, primary, 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 |
| NMNAT1 | Leber congenital amaurosis type 9 | 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 |
| NNT | Glucocorticoid deficiency 4, with or without mineralocorticoid deficiency | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |
| NONO | Mental retardation, X-linked, syndromic 34 | X-linked | General population | ≤1 in 500 | Reduced | Reduced | - | - | 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 |
| NPHP3 | Meckel syndrome type 7 | Autosomal recessive | Caucasian/European population | 1 in 73 | 1 in 123 | 1 in 35969 | 1 in 60695 | 1 in 493 | 1 in 292 | 1 in 493 | 1 in 4 |
| NPHP4 | Nephronophthisis type 4 | Autosomal recessive | General population | ≤1 in 500 | <1 in 1154 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 4615 | <1 in 2000 | <1 in 4615 | 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 |
| NPPA | Atrial standstill 2 | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |
| NPR2 | Acromesomelic dysplasia, Maroteaux type | 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 |
| 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 | - - - - - | - - - - - |
| NR1H4 | Cholestasis, progressive familial intrahepatic, type 5 | 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 |
| 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 |
| NRL | Retinal degeneration, autosomal recessive, clumped pigment type | Autosomal recessive* | General population | ≤1 in 500 | <1 in 643 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 2573 | <1 in 2000 | <1 in 2573 | 1 in 4 |
| NRXN1 | Pitt-Hopkins-like syndrome, type 2 | 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 |
| NSDHL | CHILD syndrome | X-linked | General population | ≤1 in 500 | <1 in 1416666 | <1 in 1,000,000 | - | - | 1 in 4 | - | - |
| NSMCE2 | Seckel syndrome, type 10 | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |
| NSMCE3 | Lung disease, immunodeficiency, and chromosome breakage syndrome | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |
| NSUN2 | Mental retardation, autosomal recessive, type 5 | 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 |
| NT5C2 | Spastic paraplegia 45, autosomal recessive | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |
| NT5C3A | Anemia, hemolytic, due to UMPH1 deficiency | Autosomal recessive | General population | ≤1 in 500 | <1 in 5496 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 21982 | <1 in 2000 | <1 in 21982 | 1 in 4 |
| NT5E | Calcification of joints and arteries | 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 |
| NTHL1 | Familial adenomatous polyposis, type 3 | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 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 |
| NUBPL | Mitochondrial complex I deficiency, nuclear type 21 | 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 |
| NUP107 | Nephrotic syndrome, type 11 | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |
| NUP62 | Striatonigral degeneration, infantile | 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 |
| NUP93 | Nephrotic syndrome, type 12 | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |
| NYX | Night blindness, congenital stationary (complete), type 1A, X-linked | X-linked | General population | ≤1 in 500 | <1 in 600000 | <1 in 1,000,000 | - | - | 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 |
| OBSL1 | 3M syndrome 2 | Autosomal recessive | Caucasian/European population | 1 in 103 | 1 in 273 | 1 in 112476 | 1 in 298116 | 1 in 1092 | 1 in 412 | 1 in 1092 | 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 |
| OCLN | Pseudo-TORCH syndrome, type 1 | 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 |
| 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 | - - - - - | - - - - - |
| ODAD1 | Ciliary dyskinesia, primary, 20 | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |
| ODAD2 | Ciliary dyskinesia, primary, 23 | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |
| ODAD3 | Ciliary dyskinesia, primary, 30 | Autosomal recessive | General Population | 1 in 365 | Reduced | Reduced | Reduced | Reduced | 1 in 1460 | Reduced | 1 in 4 |
| ODAD4 | Ciliary dyskinesia, primary, 35 | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |
| ODAPH | Amelogenesis imperfecta, type 2A4 | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |
| OFD1 | Orofaciodigital syndrome, type 1; Simpson-Golabi-Behmel syndrome, type 2; Joubert syndrome, type 10 | X-linked | General population | ≤1 in 500 | <1 in 1112717 | <1 in 1,000,000 | - | - | 1 in 4 | - | - |
| OGDH | Alpha-ketoglutarate dehydrogenase deficiency | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |
| OGT | Mental retardation, X-linked 106 | X-linked | General population | ≤1 in 500 | Reduced | Reduced | - | - | 1 in 4 | - | - |
| OPA1 | Behr syndrome | Autosomal recessive | General population | ≤1 in 500 | <1 in 1284 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 5135 | <1 in 2000 | <1 in 5135 | 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 | - - - - - | - - - - - |
| OPN1LW | Blue cone monochromacy | X-linked | General population | ≤1 in 500 | Reduced | Reduced | - | - | 1 in 4 | - | - |
| OPN1MW | Blue cone monochromacy | X-linked | General population | ≤1 in 500 | Reduced | Reduced | - | - | 1 in 4 | - | - |
| OPTN | Amyotrophic lateral sclerosis, type 12 | 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 |
| ORAI1 | Immunodeficiency 9 | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |
| ORC1 | Meier-Gorlin syndrome, type 1 | Autosomal recessive | General population | ≤1 in 500 | <1 in 2249 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 8995 | <1 in 2000 | <1 in 8995 | 1 in 4 |
| ORC4 | Meier-Gorlin syndrome, type 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 |
| ORC6 | Meier-Gorlin syndrome, type 3 | 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 |
| OSGEP | Galloway-Mowat syndrome 3 | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 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 | - - - - - | - - - - - |
| OTOA | Deafness, autosomal recessive type 22 | 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 |
| 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 |
| OTOG | Deafness, autosomal recessive 18B | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |
| OTOGL | Deafness, autosomal recessive 84B | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |
| OTUD6B | Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |
| OTULIN | Autoinflammation, panniculitis, and dermatosis syndrome | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |
| OXCT1 | Succinyl CoA:3-oxoacid CoA transferase deficiency | 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 |
| P2RY12 | Bleeding disorder, platelet-type, type 8 | 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 |
| 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 |
| P3H2 | Myopia, high, with cataract and vitreoretinal degeneration | 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 |
| PADI3 | Uncombable hair syndrome | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |
| PADI6 | Preimplantation embryonic lethality 2 | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 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 | - - - - - | - - - - - |
| PALB2 | Fanconi anemia, complementation group N | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |
| PAM16 | Spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 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 |
| PAPSS2 | Brachyolmia, type 4, with mild epiphyseal and metaphyseal changes | 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 |
| PARK7 | Parkinson disease, type 7, autosomal recessive, early-onset | 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 |
| PARN | Dyskeratosis congenita, autosomal recessive 6 | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |
| PATL2 | Oocyte maturation defect 4 | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |
| PAX7 | Rhabdomyosarcoma 2, alveolar | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 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 |
| PCARE | Retinitis pigmentosa, type 54 | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 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 |
| PCDH12 | Microcephaly, seizures, spasticity, and brain calcification | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 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 |
| PCDH19 | Epileptic encephalopathy, early infantile, type 9 | X-linked | General population | ≤1 in 500 | <1 in 646342 | <1 in 1,000,000 | - | - | 1 in 4 | - | - |
| PCK2 | PEPCK deficiency, mitochondrial | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |
| PCNT | Microcephalic osteodysplastic primordial dwarfism, type 2 | Autosomal recessive | General population | ≤1 in 500 | <1 in 1588 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 6351 | <1 in 2000 | <1 in 6351 | 1 in 4 |
| PCSK1 | Obesity with impaired prohormone processing | Autosomal recessive | General population | ≤1 in 500 | <1 in 584 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 2335 | <1 in 2000 | <1 in 2335 | 1 in 4 |
| PCYT1A | Spondylometaphyseal dysplasia with cone-rod dystrophy | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |
| PDE10A | Dyskinesia, limb and orofacial, infantile-onset | 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 |
| 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 |
| PDE6B | Retinitis pigmentosa type 40 | Autosomal recessive | General population | ≤1 in 500 | <1 in 783 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 3131 | <1 in 2000 | <1 in 3131 | 1 in 4 |
| PDE6C | Cone dystrophy type 4 | Autosomal recessive | General population | ≤1 in 500 | <1 in 1305 | <1 in 1,000,000 | <1 in 1,000,000 | <1 in 5221 | <1 in 2000 | <1 in 5221 | 1 in 4 |
| PDE6G | Retinitis pigmentosa type 57 | 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 |
| PDE6H | Retinal cone dystrophy 3 and achromatopsia 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 |
| 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 |
| PDHX | Lacticacidemia due to PDX1 deficiency | Autosomal recessive | Caucasian/European population | 1 in 1524 | 1 in 3301 | <1 in 1,000,000 | <1 in 1,000,000 | 1 in 13203 | 1 in 6096 | 1 in 13203 | 1 in 4 |
| PDP1 | Pyruvate dehydrogenase phosphatase deficiency | Autosomal recessive | Caucasian/European population | 1 in 4651 | 1 in 13951 | <1 in 1,000,000 | <1 in 1,000,000 | 1 in 55804 | 1 in 18604 | 1 in 55804 | 1 in 4 |
| PDSS1 | Coenzyme Q10 deficiency, primary, type 2 | 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 |
| PDSS2 | Coenzyme Q10 deficiency, primary, type 3 | 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 |
| PDX1 | Pancreatic agenesis type 1 | 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 |
| PDXK | Neuropathy, hereditary motor and sensory, type VIC, with optic atrophy | Autosomal recessive | General population | ≤1 in 500 | Reduced | Reduced | Reduced | Reduced | Reduced | Reduced | 1 in 4 |
| PDZD7 | Deafness, autosomal recessive, type 57; Usher syndrome, type 2C, digenic | Autosomal recessive; Digenic inheritance (ADGRV1 gene) | 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 |
| PEPD | Prolidase deficiency | Autosomal recessive | General population | 1 in 500 | 1 in 1213 | <1 in 1,000,000 | <1 in 1,000,000 | 1 in 4851 | 1 in 2000 | 1 in 4851 | 1 in 4 |
| PET100 | Mitochondrial complex IV deficiency | Autosomal recessive | General population | 1 in 500 | Reduced | Reduced | Reduced | Reduced | 1 in 2000 | Reduced | 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 |
| PEX11B | ?Peroxisome biogenesis disorder 14B | Autosomal recessive | Caucasian/European population | 1 in 1419 | Reduced | Reduced | Reduced | Reduced | 1 in 5676 | Reduced | 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 |
| PEX13 | Peroxisome biogenesis disorder, type 11A (Zellweger syndrome); Peroxisome biogenesis disorder, type 11B | Autosomal recessive | Caucasian/European population | 1 in 5185 | 1 in 31105 | <1 in 1,000,000 | <1 in 1,000,000 | 1 in 124420 | 1 in 20740 | 1 in 124420 | 1 in 4 |
| PEX14 | Peroxisome biogenesis disorder, type 13A (Zellweger syndrome) | Autosomal recessive | Caucasian/European population | 1 in 8009 | 1 in 16017 | <1 in 1,000,000 | <1 in 1,000,000 | 1 in 64068 | 1 in 32036 | 1 in 64068 | 1 in 4 |
| PEX16 | Peroxisome biogenesis disorder, type 8A (Zellweger syndrome); Peroxisome biogenesis disorder, type 8B | Autosomal recessive | Caucasian/European population | 1 in 3165 | 1 in 4747 | <1 in 1,000,000 | <1 in 1,000,000 | 1 in 18988 | 1 in 12660 | 1 in 18988 | 1 in 4 |
| PEX19 | Peroxisome biogenesis disorder, type 12A (Zellweger syndrome) | Autosomal recessive | Caucasian/European population | 1 in 1921 | 1 in 3841 | <1 in 1,000,000 | <1 in 1,000,000 | 1 in 15364 | 1 in 7684 | 1 in 15364 | 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 |
CGT: Tests list
