| 2-aminoadipic 2-oxoadipic aciduria | 1 | May 14, 2015 |
| 46,XY sex reversal, type 3 | 2 | May 14, 2015 |
| 46,XY sex reversal, type 6 | 1 | May 14, 2015 |
| Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins | 1 | May 14, 2015 |
| Acyl-CoA dehydrogenase family, member 9, deficiency of | 1 | May 14, 2015 |
| Alpha thalassemia-X-linked intellectual disability syndrome | 2 | May 14, 2015 |
| Alzheimer disease, type 3 | 1 | May 14, 2015 |
| Anemia, nonspherocytic hemolytic, due to G6PD deficiency | 1 | May 14, 2015 |
| Angelman syndrome | 1 | May 14, 2015 |
| Aortic aneurysm, familial thoracic 7 | 1 | May 14, 2015 |
| Aortic valve disorder | 1 | May 14, 2015 |
| Ataxia-telangiectasia-like disorder 1 | 1 | May 14, 2015 |
| Atrial fibrillation, familial, 10 | 1 | May 14, 2015 |
| Autism, susceptibility to, 18 | 2 | May 14, 2015 |
| Autosomal dominant optic atrophy classic form | 1 | May 14, 2015 |
| Autosomal recessive limb-girdle muscular dystrophy type 2B | 2 | May 14, 2015 |
| Autosomal recessive limb-girdle muscular dystrophy type 2G | 1 | May 14, 2015 |
| Bannayan-Riley-Ruvalcaba syndrome | 1 | May 14, 2015 |
| Bartter syndrome type 3 | 1 | May 14, 2015 |
| Bartter syndrome, type 1, antenatal | 1 | May 14, 2015 |
| Beckwith-Wiedemann syndrome | 1 | May 14, 2015 |
| Bethlem myopathy 1 | 1 | May 14, 2015 |
| Blepharophimosis - intellectual disability syndrome, SBBYS type | 1 | May 14, 2015 |
| Bosch-Boonstra-Schaaf optic atrophy syndrome | 1 | May 14, 2015 |
| Bothnia retinal dystrophy | 1 | May 14, 2015 |
| Brugada syndrome 1 | 2 | May 14, 2015 |
| CHARGE association | 1 | May 14, 2015 |
| Cardiofaciocutaneous syndrome 1 | 1 | May 14, 2015 |
| Cerebellar ataxia, nonprogressive, with mental retardation | 1 | May 14, 2015 |
| Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome | 1 | May 14, 2015 |
| Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy type 1 | 1 | May 14, 2015 |
| Charcot-Marie-Tooth disease dominant intermediate d | 2 | May 14, 2015 |
| Charcot-Marie-Tooth disease type 2D | 1 | May 14, 2015 |
| Charcot-Marie-Tooth disease type 2I | 2 | May 14, 2015 |
| Charcot-Marie-Tooth disease type 2J | 2 | May 14, 2015 |
| Charcot-Marie-Tooth disease type 2K | 1 | May 14, 2015 |
| Charcot-Marie-Tooth disease, axonal, type 2Q | 1 | May 14, 2015 |
| Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive | 1 | May 14, 2015 |
| Charcot-Marie-Tooth disease, demyelinating, type 1b | 2 | May 14, 2015 |
| Charcot-Marie-Tooth disease, recessive intermediate A | 1 | May 14, 2015 |
| Charcot-Marie-Tooth disease, type 4A | 1 | May 14, 2015 |
| Charcot-Marie-Tooth disease, type 4C | 1 | May 14, 2015 |
| Charlevoix-Saguenay spastic ataxia | 1 | May 14, 2015 |
| Chromosome 2q32-q33 deletion syndrome | 1 | May 14, 2015 |
| Cold-induced sweating syndrome 1 | 1 | May 14, 2015 |
| Combined oxidative phosphorylation deficiency 15 | 1 | May 14, 2015 |
| Combined oxidative phosphorylation deficiency 16 | 1 | May 14, 2015 |
| Combined oxidative phosphorylation deficiency 3 | 1 | May 14, 2015 |
| Common variable immunodeficiency 2 | 1 | May 14, 2015 |
| Cone dystrophy 4 | 1 | May 14, 2015 |
| Cone-rod dystrophy 13 | 1 | May 14, 2015 |
| Cone-rod dystrophy, X-linked 1 | 1 | May 14, 2015 |
| Congenital hypomyelinating neuropathy 1, autosomal recessive | 2 | May 14, 2015 |
| Congenital muscular dystrophy, LMNA-related | 1 | May 14, 2015 |
| Congenital myasthenic syndrome 4C | 1 | May 14, 2015 |
| Cornelia de Lange syndrome 4 | 1 | May 14, 2015 |
| Cornelia de Lange syndrome 5 | 1 | May 14, 2015 |
| Cortical dysplasia, complex, with other brain malformations 5 | 2 | May 14, 2015 |
| Cowden syndrome 1 | 1 | May 14, 2015 |
| Cutis laxa, autosomal recessive IIIA | 1 | May 14, 2015 |
| DOORS syndrome | 1 | May 14, 2015 |
| Deafness, autosomal recessive 1A | 1 | May 14, 2015 |
| Deafness, autosomal recessive 9 | 1 | May 14, 2015 |
| Dejerine-Sottas disease | 2 | May 14, 2015 |
| Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency | 1 | May 14, 2015 |
| Dilated cardiomyopathy 1A | 1 | May 14, 2015 |
| Dilated cardiomyopathy 1E | 1 | May 14, 2015 |
| Dilated cardiomyopathy 1FF | 1 | May 14, 2015 |
| Dilated cardiomyopathy 1G | 1 | May 14, 2015 |
| Dilated cardiomyopathy 1S | 1 | May 14, 2015 |
| Distal hereditary motor neuronopathy type 5 | 1 | May 14, 2015 |
| Duchenne muscular dystrophy | 1 | May 14, 2015 |
| Dyskeratosis congenita, autosomal recessive, 5 | 1 | May 14, 2015 |
| Early infantile epileptic encephalopathy 11 | 3 | May 14, 2015 |
| Early infantile epileptic encephalopathy 13 | 1 | May 14, 2015 |
| Early infantile epileptic encephalopathy 14 | 1 | May 14, 2015 |
| Early infantile epileptic encephalopathy 16 | 1 | May 14, 2015 |
| Early infantile epileptic encephalopathy 7 | 1 | May 14, 2015 |
| Early infantile epileptic encephalopathy 9 | 1 | May 14, 2015 |
| Ehlers-Danlos syndrome, type 3 | 2 | May 14, 2015 |
| Ehlers-Danlos syndrome, type 4 | 1 | May 14, 2015 |
| Emery-Dreifuss muscular dystrophy 2, autosomal dominant | 1 | May 14, 2015 |
| Epilepsy, progressive myoclonic 6 | 1 | May 14, 2015 |
| Episodic ataxia type 2 | 1 | May 14, 2015 |
| FG syndrome 1 | 1 | May 14, 2015 |
| Familial Mediterranean fever | 1 | May 14, 2015 |
| Familial hemophagocytic lymphohistiocytosis 2 | 1 | May 14, 2015 |
| Familial hypertrophic cardiomyopathy 1 | 1 | May 14, 2015 |
| Familial hypertrophic cardiomyopathy 4 | 1 | May 14, 2015 |
| Familial hypertrophic cardiomyopathy 7 | 1 | May 14, 2015 |
| Familial hypertrophic cardiomyopathy 9 | 1 | May 14, 2015 |
| Familial restrictive cardiomyopathy 1 | 1 | May 14, 2015 |
| Floating-Harbor syndrome | 1 | May 14, 2015 |
| Glanzmann thrombasthenia | 1 | May 14, 2015 |
| Hereditary factor IX deficiency disease | 1 | May 14, 2015 |
| Hereditary factor VIII deficiency disease | 1 | May 14, 2015 |
| Hereditary sensory neuropathy type IE | 1 | May 14, 2015 |
| Hereditary spastic paraplegia 13 | 1 | May 14, 2015 |
| Hereditary spastic paraplegia 7 | 2 | May 14, 2015 |
| Hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities | 1 | May 14, 2015 |
| Hypomyelinating leukodystrophy 7 | 1 | May 14, 2015 |
| Hypomyelinating leukodystrophy 8, with or without oligodontia and/or hypogonadotropic hypogonadism | 1 | May 14, 2015 |
| Immunodeficiency 31C | 1 | May 14, 2015 |
| Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 | 1 | May 14, 2015 |
| Infantile GM1 gangliosidosis | 1 | May 14, 2015 |
| Infantile neuroaxonal dystrophy | 1 | May 14, 2015 |
| Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations | 1 | May 14, 2015 |
| Joubert syndrome 3 | 2 | May 14, 2015 |
| KAT6A syndrome | 2 | Jan 16, 2015 |
| Kabuki syndrome 1 | 1 | May 14, 2015 |
| Kabuki syndrome 2 | 1 | May 14, 2015 |
| Late-onset retinal degeneration | 1 | May 14, 2015 |
| Leber congenital amaurosis 16 | 1 | May 14, 2015 |
| Leber congenital amaurosis 7 | 1 | May 14, 2015 |
| Leigh syndrome | 2 | May 14, 2015 |
| Leukocyte adhesion deficiency type II | 1 | May 14, 2015 |
| Leukodystrophy, hypomyelinating, 6 | 1 | May 14, 2015 |
| Li-Fraumeni syndrome 1 | 1 | Jun 8, 2017 |
| Limb-girdle muscular dystrophy, type 1B | 1 | May 14, 2015 |
| Limb-girdle muscular dystrophy, type 2A | 1 | May 14, 2015 |
| Limb-girdle muscular dystrophy, type 2J | 1 | May 14, 2015 |
| Limb-girdle muscular dystrophy, type 2L | 1 | May 14, 2015 |
| Lipoyltransferase 1 deficiency | 1 | May 14, 2015 |
| Lissencephaly 3 | 1 | May 14, 2015 |
| Loeys-Dietz syndrome 2 | 1 | May 14, 2015 |
| Long QT syndrome 3 | 1 | May 14, 2015 |
| Lymphedema, hereditary, III | 2 | Aug 23, 2018 |
| Lymphedema, primary, with myelodysplasia | 2 | May 14, 2015 |
| MYH7-related late-onset scapuloperoneal muscular dystrophy | 1 | May 14, 2015 |
| Macrocephaly/autism syndrome | 1 | May 14, 2015 |
| Mandibulofacial dysostosis-microcephaly syndrome | 1 | May 14, 2015 |
| Medulloblastoma | 1 | May 14, 2015 |
| Megalencephaly-capillary malformation-polymicrogyria syndrome | 1 | May 14, 2015 |
| Mental retardation and microcephaly with pontine and cerebellar hypoplasia | 1 | May 14, 2015 |
| Mental retardation with language impairment and with or without autistic features | 1 | Sep 25, 2014 |
| Mental retardation, X-linked 93 | 1 | May 14, 2015 |
| Mental retardation, autosomal dominant 13 | 1 | May 14, 2015 |
| Mental retardation, autosomal dominant 19 | 1 | May 14, 2015 |
| Mental retardation, autosomal dominant 5 | 1 | May 14, 2015 |
| Mental retardation, autosomal dominant 6 | 1 | May 14, 2015 |
| Mental retardation, autosomal dominant 7 | 11 | Dec 2, 2014 |
| Merosin deficient congenital muscular dystrophy | 1 | May 14, 2015 |
| Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | 1 | May 14, 2015 |
| Mitochondrial DNA depletion syndrome, encephalomyopathic form, with renal tubulopathy | 1 | May 14, 2015 |
| Mitochondrial DNA depletion syndrome, hepatocerebral form | 1 | Jan 27, 2016 |
| Miyoshi muscular dystrophy 1 | 1 | May 14, 2015 |
| Miyoshi muscular dystrophy 3 | 1 | May 14, 2015 |
| Mowat-Wilson syndrome | 2 | May 14, 2015 |
| Multiple acyl-CoA dehydrogenase deficiency | 1 | May 14, 2015 |
| Multiple fibrofolliculomas | 1 | May 14, 2015 |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 | 1 | May 14, 2015 |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14 | 1 | May 14, 2015 |
| Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 14 | 1 | May 14, 2015 |
| Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 14 | 1 | May 14, 2015 |
| Myasthenia, limb-girdle, familial | 1 | May 14, 2015 |
| Myoclonic epilepsy, familial infantile | 1 | May 14, 2015 |
| Myopathy, distal, 1 | 1 | May 14, 2015 |
| Myopathy, distal, with anterior tibial onset | 1 | May 14, 2015 |
| Myopathy, early-onset, with fatal cardiomyopathy | 1 | May 14, 2015 |
| Myosin storage myopathy | 1 | May 14, 2015 |
| Neurofibromatosis, type 1 | 1 | May 14, 2015 |
| Neuronal ceroid lipofuscinosis 8 | 2 | May 14, 2015 |
| Nicolaides-Baraitser syndrome | 2 | May 14, 2015 |
| Niemann-Pick disease type C1 | 1 | May 14, 2015 |
| Non-ketotic hyperglycinemia | 1 | May 14, 2015 |
| Noonan syndrome 1 | 2 | May 14, 2015 |
| Noonan syndrome 3 | 1 | May 14, 2015 |
| Noonan syndrome-like disorder with loose anagen hair 1 | 1 | May 14, 2015 |
| Oculocutaneous albinism type 4 | 1 | May 14, 2015 |
| Oculofaciocardiodental syndrome | 1 | May 14, 2015 |
| Ohdo syndrome, X-linked | 1 | May 14, 2015 |
| Osteogenesis imperfecta type III | 2 | May 14, 2015 |
| Osteogenesis imperfecta with normal sclerae, dominant form | 2 | May 14, 2015 |
| Osteogenesis imperfecta, recessive perinatal lethal | 2 | May 14, 2015 |
| Pachyonychia congenita 1 | 1 | May 14, 2015 |
| Paragangliomas 1 | 1 | May 14, 2015 |
| Paragangliomas 4 | 1 | May 14, 2015 |
| Parkinson disease 11 | 1 | May 14, 2015 |
| Paroxysmal familial ventricular fibrillation 1 | 1 | May 14, 2015 |
| Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy | 1 | May 14, 2015 |
| Partial androgen insensitivity syndrome | 1 | May 14, 2015 |
| Pena-Shokeir syndrome type I | 1 | May 14, 2015 |
| Peroxisomal acyl-CoA oxidase deficiency | 1 | May 14, 2015 |
| Pitt-Hopkins syndrome | 2 | May 14, 2015 |
| Primary autosomal recessive microcephaly 3 | 1 | May 14, 2015 |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 | 1 | May 14, 2015 |
| Progressive familial heart block, type 1A | 1 | May 14, 2015 |
| Progressive myositis ossificans | 1 | May 14, 2015 |
| Pseudohypoparathyroidism | 1 | May 14, 2015 |
| Pseudohypoparathyroidism type 1C | 1 | May 14, 2015 |
| Pyridoxine-dependent epilepsy | 1 | May 14, 2015 |
| Retinitis pigmentosa 12 | 1 | May 14, 2015 |
| Retinitis pigmentosa 26 | 1 | May 14, 2015 |
| Retinitis pigmentosa 37 | 1 | May 14, 2015 |
| Retinitis pigmentosa 38 | 1 | May 14, 2015 |
| Retinitis pigmentosa 39 | 1 | May 14, 2015 |
| Retinitis pigmentosa 49 | 1 | May 14, 2015 |
| Roussy-Lévy syndrome | 2 | May 14, 2015 |
| SHORT syndrome | 1 | May 14, 2015 |
| Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome | 1 | May 14, 2015 |
| Severe combined immunodeficiency due to ADA deficiency | 1 | May 14, 2015 |
| Sotos syndrome 1 | 2 | May 14, 2015 |
| Spastic paraplegia 35 | 1 | May 14, 2015 |
| Spastic paraplegia 4, autosomal dominant | 2 | May 14, 2015 |
| Spinal muscular atrophy, distal, autosomal recessive, 1 | 1 | May 14, 2015 |
| Spinocerebellar ataxia type 29 | 1 | May 14, 2015 |
| Spinocerebellar ataxia type 6 | 1 | May 14, 2015 |
| Spinocerebellar ataxia, autosomal recessive 8 | 3 | May 14, 2015 |
| Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 | 1 | May 14, 2015 |
| Stargardt disease 1 | 2 | May 14, 2015 |
| Symmetrical dyschromatosis of extremities | 1 | May 14, 2015 |
| Syndromic X-linked intellectual disability Turner type | 1 | May 14, 2015 |
| TNF receptor-associated periodic fever syndrome (TRAPS) | 1 | May 14, 2015 |
| Testosterone 17-beta-dehydrogenase deficiency | 1 | May 14, 2015 |
| Tumoral calcinosis, hyperphosphatemic, familial | 1 | May 14, 2015 |
| Usher syndrome, type 2A | 1 | May 14, 2015 |
| Wiedemann-Steiner syndrome | 4 | May 14, 2015 |
| Wilson disease | 1 | May 14, 2015 |
| X-linked intellectual disability-hypotonic face syndrome | 2 | May 14, 2015 |
| X-linked mental retardation with marfanoid habitus syndrome | 1 | May 14, 2015 |
| X-linked severe combined immunodeficiency | 1 | May 14, 2015 |
