| 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 |
| Autism, susceptibility to, 18 | 2 | 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 |
| Benign scapuloperoneal muscular dystrophy with cardiomyopathy | 1 | May 14, 2015 |
| Bethlem myopathy 1 | 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 |
| 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 |
| 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 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-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 late-onset scapuloperoneal muscular dystrophy | 1 | May 14, 2015 |
| 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 8a | 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 |
| 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 |
| Multiple fibrofolliculomas | 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 |
| Nonprogressive cerebellar atxia with intellectual disability | 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 1 | 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 intellectual disability-hypotonic face syndrome | 2 | May 14, 2015 |
| X-linked severe combined immunodeficiency | 1 | May 14, 2015 |
