| 15q24 Microdeletion Syndrome | 1 | 5-9-19 | mdel15q24 |
| 1p36 Deletion Syndrome | 1 | 8-8-19 | del1p36 |
| 22q11.2 Duplication | 12 | 1-30-20 | dupl22q11 |
| 2q37 Microdeletion Syndrome | 1 | 1-18-18 | del2q37_2 |
| 9q22.3 Microdeletion | 1 | 8-2-18 | mdel9q22_3 |
| Adams-Oliver Syndrome | 4 | 8-17-23 | adams-oliver |
| APOE p.Leu167del-Related Lipid Disorders | 9 | 11-7-19 | apoe-leu167del |
| Ataxia with Oculomotor Apraxia Type 1 | 4 | 5-2-24 | aoa |
| CATSPER-Related Male Infertility | 16 | 12-14-23 | catsper-mi |
| Caveolinopathies | 13 | 10-31-19 | cav |
| Central Core Disease | 3 | 11-7-19 | cco |
| Charcot-Marie-Tooth Neuropathy Type 1 | 2 | 7-5-18 | cmt1 |
| Charcot-Marie-Tooth Neuropathy Type 2 | 2 | 7-5-18 | cmt2 |
| Charcot-Marie-Tooth Neuropathy Type 2E/1F | 2 | 8-15-19 | cmt2e |
| Charcot-Marie-Tooth Neuropathy Type 4 | 2 | 7-5-18 | cmt4 |
| Charcot-Marie-Tooth Neuropathy Type 4H | 2 | 9-19-19 | cmt4h |
| Charcot-Marie-Tooth Neuropathy Type 4J | 2 | 9-19-19 | cmt4j |
| Charcot-Marie-Tooth Neuropathy X Type 5 | 15 | 6-8-23 | cmtx5 |
| Congenital Diaphragmatic Hernia Overview | 12 | 8-7-25 | cdh-ov |
| Congenital Fiber-Type Disproportion | 3 | 4-18-19 | cftd |
| Congenital Hepatic Fibrosis | 3 | 5-14-20 | hepatic-fibrosis |
| Congenital Muscular Dystrophy Overview | 4 | 10-18-18 | cmd-overview |
| Craniofacial Microsomia Overview | 7 | 4-2-20 | m-hfm-ov |
| Deafness and Myopia Syndrome | 9 | 8-7-25 | dfn-myop |
| DFNX1 Nonsyndromic Hearing Loss and Deafness | 15 | 6-8-23 | dfnx1 |
| DNM2-Related Intermediate Charcot-Marie-Tooth Neuropathy | 2 | 9-19-19 | cmt-dib |
| Early-Onset Familial Alzheimer Disease | 5 | 9-13-18 | alzheimer-early |
| Episodic Ataxia Type 2 | 9 | 10-22-20 | ea2 |
| Esophageal Atresia / Tracheoesophageal Fistula Overview | 11 | 4-20-23 | tef-ov |
| Familial Exudative Vitreoretinopathy, Autosomal Dominant | 13 | 9-3-20 | fevr |
| Familial Monosomy 7 Syndrome | 11 | 11-19-20 | mono7-mds |
| Familial Paroxysmal Kinesigenic Dyskinesia | 6 | 1-11-18 | pknd |
| GDAP1-Related Hereditary Motor and Sensory Neuropathy | 13 | 3-27-25 | cmt-4a |
| GLYT1 Encephalopathy | 9 | 6-26-25 | glyt1-dis |
| Hereditary Neuralgic Amyotrophy | 7 | 8-29-19 | hna |
| Hirschsprung Disease Overview | 12 | 3-5-20 | hirschsprung-ov |
| Infantile-Onset Spinocerebellar Ataxia | 13 | 5-30-24 | sca-io |
| Leber Congenital Amaurosis | 8 | 5-24-18 | lca |
| Lenz Microphthalmia Syndrome | 9 | 11-7-19 | lenz |
| Leukodystrophy Overview | 12 | 1-30-20 | leukodys-ov |
| Limb-Girdle Muscular Dystrophy Overview | 13 | 5-17-18 | lgmd-overview |
| Majeed Syndrome | 14 | 9-12-19 | majeed |
| Microphthalmia/Anophthalmia/Coloboma Spectrum | 4 | 11-7-19 | anophthalmia-ov |
| Mucolipidosis III Alpha/Beta | 10 | 8-29-19 | ml3a |
| Multiminicore Disease | 3 | 4-18-19 | mmd |
| Myofibrillar Myopathy | 3 | 5-9-19 | mfm |
| Myopathy with Deficiency of ISCU | 9, 13 | 2-10-22 | myodef-sda |
| Myostatin-Related Muscle Hypertrophy | 9 | 4-18-19 | mstn |
| Nemaline Myopathy | 3 | 11-7-19 | nem |
| Nonsyndromic Hearing Loss and Deafness, DFNA3 | 4 | 9-7-23 | dfna3 |
| Ocular Albinism, X-Linked | 13 | 11-10-21 | x-oa |
| Oculocutaneous Albinism Type 1 | 4 | 1-7-21 | oca1 |
| Oculocutaneous Albinism Type 2 | 4 | 1-7-21 | oca2 |
| Optic Atrophy Type 1 | 4 | 5-9-24 | opa |
| Polymicrogyria Overview | 12 | 6-6-24 | poly |
| Primary AR Microcephalies and Seckel Syndrome Spectrum Disorders | 11 | 9-10-18 | microcephaly |
| Proopiomelanocortin Deficiency | 9 | 4-16-20 | pomc-def |
| Sialuria | 9 | 3-7-19 | sft |
| Spinocerebellar Ataxia Type 12 | 9 | 12-13-18 | sca12 |
| Spinocerebellar Ataxia Type 15 | 4 | 4-25-24 | sca15 |
| Spinocerebellar Ataxia Type 36 | 9, 13 | 2-11-21 | sca36 |
| Susceptibility to Infection-Induced Acute Encephalopathy 3 | 9 | 9-10-20 | iiae3 |
| Tetra Amelia | 9 | 3-7-19 | tetra-amelia |
| VCAN-Related Vitreoretinopathy | 13 | 5-16-24 | wagner |
| Wolf-Hirschhorn Syndrome | 1 | 4-18-19 | whs |
| X-Linked Sideroblastic Anemia and Ataxia | 9 | 8-20-20 | sider-anemia |
