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 |