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 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 |
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 |
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 |
Neuronal Ceroid-Lipofuscinosis | 11 | 4-11-19 | ncl |
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 |