2-aminoadipic 2-oxoadipic aciduria | 1 | May 14, 2015 |
46,XY sex reversal 3 | 2 | May 14, 2015 |
46,XY sex reversal 6 | 1 | May 14, 2015 |
ALDH18A1-related de Barsy syndrome | 1 | May 14, 2015 |
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins | 1 | May 14, 2015 |
Acyl-CoA dehydrogenase 9 deficiency | 1 | May 14, 2015 |
Acyl-CoA oxidase deficiency | 1 | May 14, 2015 |
Alpha thalassemia-X-linked intellectual disability syndrome | 2 | May 14, 2015 |
Alzheimer disease 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 disease 1 | 1 | May 14, 2015 |
Ataxia-telangiectasia-like disorder 1 | 1 | May 14, 2015 |
Atrial fibrillation, familial, 10 | 1 | May 14, 2015 |
Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome | 1 | May 14, 2015 |
Autosomal dominant optic atrophy classic form | 1 | May 14, 2015 |
Autosomal recessive ataxia, Beauce type | 3 | May 14, 2015 |
Autosomal recessive distal spinal muscular atrophy 1 | 1 | May 14, 2015 |
Autosomal recessive limb-girdle muscular dystrophy type 2A | 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 |
Autosomal recessive limb-girdle muscular dystrophy type 2J | 1 | May 14, 2015 |
Autosomal recessive limb-girdle muscular dystrophy type 2L | 1 | May 14, 2015 |
Autosomal recessive limb-girdle muscular dystrophy type 2T | 1 | May 14, 2015 |
Autosomal recessive nonsyndromic hearing loss 1A | 1 | May 14, 2015 |
Autosomal recessive nonsyndromic hearing loss 9 | 1 | May 14, 2015 |
Bannayan-Riley-Ruvalcaba syndrome | 1 | May 14, 2015 |
Bartter disease type 1 | 1 | May 14, 2015 |
Bartter disease type 3 | 1 | May 14, 2015 |
Beckwith-Wiedemann syndrome | 1 | May 14, 2015 |
Bethlem myopathy 1 | 1 | May 14, 2015 |
Birt-Hogg-Dube syndrome | 1 | May 14, 2015 |
Blepharophimosis - intellectual disability syndrome, MKB type | 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 |
Cardiomyopathy, familial restrictive, 1 | 1 | May 14, 2015 |
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome | 1 | May 14, 2015 |
Cerebellar dysfunction with variable cognitive and behavioral abnormalities | 1 | May 14, 2015 |
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 | 1 | May 14, 2015 |
Charcot-Marie-Tooth disease axonal type 2K | 1 | May 14, 2015 |
Charcot-Marie-Tooth disease axonal type 2Q | 1 | May 14, 2015 |
Charcot-Marie-Tooth disease dominant intermediate D | 2 | May 14, 2015 |
Charcot-Marie-Tooth disease recessive intermediate A | 1 | May 14, 2015 |
Charcot-Marie-Tooth disease type 1B | 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 4A | 1 | May 14, 2015 |
Charcot-Marie-Tooth disease type 4C | 1 | May 14, 2015 |
Charcot-Marie-Tooth disease type 4E | 2 | May 14, 2015 |
Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive | 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 defect type 15 | 1 | May 14, 2015 |
Complex cortical dysplasia with other brain malformations 5 | 2 | May 14, 2015 |
Cone dystrophy 4 | 1 | May 14, 2015 |
Cone-rod dystrophy 13 | 1 | May 14, 2015 |
Congenital muscular dystrophy due to LMNA mutation | 1 | May 14, 2015 |
Congenital myasthenic syndrome 10 | 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 |
Cowden syndrome 1 | 1 | May 14, 2015 |
DOORS syndrome | 1 | May 14, 2015 |
DYRK1A-related intellectual disability syndrome | 11 | Dec 2, 2014 |
Deafness-lymphedema-leukemia syndrome | 2 | May 14, 2015 |
Dejerine-Sottas disease | 2 | May 14, 2015 |
Developmental and epileptic encephalopathy, 11 | 3 | May 14, 2015 |
Developmental and epileptic encephalopathy, 13 | 1 | May 14, 2015 |
Developmental and epileptic encephalopathy, 14 | 1 | May 14, 2015 |
Developmental and epileptic encephalopathy, 16 | 1 | May 14, 2015 |
Developmental and epileptic encephalopathy, 7 | 1 | May 14, 2015 |
Developmental and epileptic encephalopathy, 9 | 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 myopathy with anterior tibial onset | 1 | May 14, 2015 |
Duchenne muscular dystrophy | 1 | May 14, 2015 |
Dyskeratosis congenita, autosomal recessive 5 | 1 | May 14, 2015 |
Early-onset myopathy with fatal cardiomyopathy | 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 |
Episodic ataxia type 2 | 1 | May 14, 2015 |
FADD-related immunodeficiency | 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 hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome | 1 | May 14, 2015 |
Familial infantile myoclonic epilepsy | 1 | May 14, 2015 |
Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 | 1 | May 14, 2015 |
Fetal akinesia deformation sequence 1 | 1 | May 14, 2015 |
Floating-Harbor syndrome | 1 | May 14, 2015 |
Generalized epilepsy-paroxysmal dyskinesia 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-deafness-dementia syndrome | 1 | May 14, 2015 |
Hereditary spastic paraplegia 13 | 1 | May 14, 2015 |
Hereditary spastic paraplegia 35 | 1 | May 14, 2015 |
Hereditary spastic paraplegia 4 | 2 | May 14, 2015 |
Hereditary spastic paraplegia 7 | 2 | May 14, 2015 |
Hypertrophic cardiomyopathy 1 | 1 | May 14, 2015 |
Hypertrophic cardiomyopathy 4 | 1 | May 14, 2015 |
Hypertrophic cardiomyopathy 7 | 1 | May 14, 2015 |
Hypertrophic cardiomyopathy 9 | 1 | May 14, 2015 |
Hypomyelinating leukodystrophy 6 | 1 | May 14, 2015 |
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism | 1 | May 14, 2015 |
Immunodeficiency, common variable, 2 | 1 | May 14, 2015 |
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 | 1 | May 14, 2015 |
Infantile GM1 gangliosidosis | 1 | May 14, 2015 |
Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency | 1 | May 14, 2015 |
Infantile neuroaxonal dystrophy | 1 | May 14, 2015 |
Intellectual developmental disorder with autism and macrocephaly | 2 | May 14, 2015 |
Intellectual disability, X-linked 93 | 1 | May 14, 2015 |
Intellectual disability, X-linked syndromic, Turner type | 1 | May 14, 2015 |
Intellectual disability, autosomal dominant 13 | 1 | May 14, 2015 |
Intellectual disability, autosomal dominant 5 | 1 | May 14, 2015 |
Intellectual disability, autosomal dominant 6 | 1 | May 14, 2015 |
Intellectual disability-hypotonic facies syndrome, X-linked, 1 | 2 | May 14, 2015 |
Intellectual disability-severe speech delay-mild dysmorphism syndrome | 1 | Sep 25, 2014 |
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 |
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | 1 | May 14, 2015 |
Li-Fraumeni syndrome 1 | 1 | Jun 8, 2017 |
Lipoyl transferase 1 deficiency | 1 | May 14, 2015 |
Lissencephaly due to TUBA1A mutation | 1 | May 14, 2015 |
Loeys-Dietz syndrome 2 | 1 | May 14, 2015 |
Long QT syndrome 3 | 1 | May 14, 2015 |
Lymphatic malformation 6 | 2 | Aug 23, 2018 |
MYH7-related skeletal myopathy | 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 |
Merosin deficient congenital muscular dystrophy | 1 | May 14, 2015 |
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | 1 | May 14, 2015 |
Microcephaly 3, primary, autosomal recessive | 1 | May 14, 2015 |
Mitochondrial DNA depletion syndrome 15 (hepatocerebral type) | 1 | Jan 27, 2016 |
Mitochondrial DNA depletion syndrome 8a | 1 | May 14, 2015 |
Miyoshi muscular dystrophy 1 | 1 | May 14, 2015 |
Miyoshi muscular dystrophy 3 | 1 | May 14, 2015 |
Monocytopenia with susceptibility to infections | 1 | May 14, 2015 |
Mowat-Wilson syndrome | 2 | May 14, 2015 |
Multiple acyl-CoA dehydrogenase deficiency | 1 | May 14, 2015 |
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 | 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 intellectual disability), type B14 | 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 |
Neuronopathy, distal hereditary motor, type 5A | 1 | 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 |
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, autosomal dominant, susceptibility to | 1 | May 14, 2015 |
Partial androgen insensitivity syndrome | 1 | May 14, 2015 |
Pitt-Hopkins syndrome | 2 | 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 myoclonic epilepsy type 6 | 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, and ophthalmoparesis | 1 | May 14, 2015 |
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency | 1 | May 14, 2015 |
Severe early-childhood-onset retinal dystrophy | 2 | May 14, 2015 |
Severe intellectual disability-progressive spastic diplegia syndrome | 1 | May 14, 2015 |
Sotos syndrome | 2 | May 14, 2015 |
Spinocerebellar ataxia type 29 | 1 | May 14, 2015 |
Spinocerebellar ataxia type 6 | 1 | May 14, 2015 |
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 | 1 | May 14, 2015 |
Symmetrical dyschromatosis of extremities | 1 | May 14, 2015 |
Syndromic X-linked intellectual disability Najm 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 |
Usher syndrome type 2A | 1 | May 14, 2015 |
Ventricular fibrillation, paroxysmal familial, type 1 | 1 | May 14, 2015 |
Wiedemann-Steiner syndrome | 4 | May 14, 2015 |
Wilson disease | 1 | May 14, 2015 |
Woodhouse-Sakati syndrome | 1 | May 14, 2015 |
X-linked cone-rod dystrophy 1 | 1 | May 14, 2015 |
X-linked intellectual disability with marfanoid habitus | 1 | May 14, 2015 |
X-linked severe combined immunodeficiency | 1 | May 14, 2015 |