2-aminoadipic 2-oxoadipic aciduria | 1 | May 11, 2018 |
8q24.3 microdeletion syndrome | 1 | May 22, 2023 |
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder | 2 | Sep 24, 2024 |
ALG1-congenital disorder of glycosylation | 1 | Mar 5, 2021 |
Abnormal long bone morphology | 1 | May 2, 2023 |
Abnormal protein O-linked glycosylation | 1 | Apr 1, 2022 |
Abnormality of the urinary system | 1 | Apr 11, 2019 |
Achondrogenesis type II | 1 | Sep 15, 2023 |
Acral peeling skin syndrome | 1 | Dec 5, 2023 |
Acromesomelic dysplasia 1, Maroteaux type | 2 | May 22, 2023 |
Adult-onset proximal spinal muscular atrophy, autosomal dominant | 1 | May 11, 2018 |
Aicardi-Goutieres syndrome 6 | 1 | Sep 23, 2019 |
Aicardi-Goutieres syndrome 7 | 1 | Sep 23, 2019 |
Alagille syndrome due to a JAG1 point mutation | 2 | Jan 30, 2023 |
Alagille syndrome due to a NOTCH2 point mutation | 1 | Dec 19, 2018 |
Allan-Herndon-Dudley syndrome | 1 | Dec 15, 2021 |
Alport syndrome | 4 | Dec 17, 2021 |
Amyotrophic lateral sclerosis type 1 | 2 | May 11, 2018 |
Amyotrophic lateral sclerosis type 4 | 1 | Oct 2, 2020 |
Amyotrophic lateral sclerosis type 6 | 1 | May 11, 2018 |
Aneurysm-osteoarthritis syndrome | 4 | Dec 5, 2023 |
Aniridia 1 | 1 | Dec 17, 2021 |
Aortic aneurysm, familial thoracic 6 | 3 | Apr 26, 2024 |
Aortic aneurysm, familial thoracic 7 | 1 | Apr 5, 2017 |
Aortic valve disease 3 | 1 | Dec 17, 2021 |
Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect | 2 | May 11, 2018 |
Arthrogryposis, distal, with impaired proprioception and touch | 1 | May 11, 2018 |
Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome | 1 | Sep 15, 2023 |
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome | 1 | Dec 17, 2021 |
Atypical hemolytic-uremic syndrome with C3 anomaly | 1 | Mar 5, 2021 |
Au-Kline syndrome | 1 | May 12, 2021 |
Autism spectrum disorder due to AUTS2 deficiency | 1 | Jan 10, 2024 |
Autism, susceptibility to, X-linked 1 | 1 | Dec 15, 2021 |
Autosomal dominant Alport syndrome | 6 | Apr 25, 2022 |
Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures | 1 | May 11, 2018 |
Autosomal dominant intermediate Charcot-Marie-Tooth disease | 1 | May 11, 2018 |
Autosomal dominant pseudohypoaldosteronism type 1 | 1 | Apr 25, 2022 |
Autosomal dominant slowed nerve conduction velocity | 2 | Nov 28, 2018 |
Autosomal recessive Alport syndrome | 4 | Dec 30, 2020 |
Autosomal recessive ataxia, Beauce type | 1 | May 11, 2018 |
Autosomal recessive axonal hereditary motor and sensory neuropathy | 2 | May 11, 2018 |
Autosomal recessive axonal neuropathy with neuromyotonia | 1 | May 11, 2018 |
Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome | 2 | Oct 2, 2020 |
Autosomal recessive distal spinal muscular atrophy 1 | 1 | May 11, 2018 |
Autosomal recessive hypophosphatemic bone disease | 1 | Apr 25, 2022 |
Autosomal recessive limb-girdle muscular dystrophy type 2A | 1 | Oct 18, 2017 |
Autosomal recessive limb-girdle muscular dystrophy type 2I | 1 | Dec 29, 2017 |
Autosomal recessive limb-girdle muscular dystrophy type 2J | 2 | Oct 2, 2020 |
Autosomal recessive nonsyndromic hearing loss 16 | 1 | Jul 8, 2024 |
Autosomal recessive nonsyndromic hearing loss 18A | 1 | Sep 15, 2023 |
Autosomal recessive nonsyndromic hearing loss 18B | 2 | Apr 26, 2024 |
Autosomal recessive polycystic kidney disease | 2 | Mar 9, 2020 |
Autosomal recessive proximal renal tubular acidosis | 1 | Jun 11, 2018 |
Bardet-Biedl syndrome 10 | 1 | Aug 19, 2019 |
Benign familial hematuria | 3 | Aug 8, 2022 |
Bethlem myopathy 1A | 2 | May 11, 2018 |
Birt-Hogg-Dube syndrome | 1 | Jul 28, 2017 |
Birt-Hogg-Dube syndrome 1 | 1 | Feb 26, 2024 |
Bone mineral density quantitative trait locus 18 | 1 | Aug 7, 2017 |
Branchiootorenal syndrome 1 | 1 | Feb 14, 2020 |
Brittle cornea syndrome 1 | 1 | May 29, 2018 |
Brown-Vialetto-van Laere syndrome 2 | 2 | May 11, 2018 |
Bruck syndrome 2 | 1 | Jun 11, 2018 |
CHARGE syndrome | 5 | Dec 17, 2021 |
Cardiofaciocutaneous syndrome 3 | 1 | Mar 30, 2020 |
Cardiomyopathy, familial restrictive, 1 | 1 | May 4, 2018 |
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 | 1 | Apr 18, 2023 |
Charcot-Marie-Tooth disease axonal type 2C | 1 | Nov 28, 2018 |
Charcot-Marie-Tooth disease axonal type 2N | 1 | May 11, 2018 |
Charcot-Marie-Tooth disease axonal type 2O | 1 | Jul 8, 2024 |
Charcot-Marie-Tooth disease axonal type 2Q | 1 | Dec 12, 2017 |
Charcot-Marie-Tooth disease axonal type 2S | 2 | May 11, 2018 |
Charcot-Marie-Tooth disease axonal type 2Z | 1 | May 11, 2018 |
Charcot-Marie-Tooth disease dominant intermediate D | 2 | Jul 6, 2020 |
Charcot-Marie-Tooth disease recessive intermediate A | 3 | May 11, 2018 |
Charcot-Marie-Tooth disease type 2 | 1 | May 11, 2018 |
Charcot-Marie-Tooth disease type 2A2 | 1 | May 11, 2018 |
Charcot-Marie-Tooth disease type 2D | 1 | Dec 17, 2021 |
Charcot-Marie-Tooth disease type 4B1 | 1 | May 11, 2018 |
Charcot-Marie-Tooth disease type 4C | 1 | Jul 24, 2019 |
Charcot-Marie-Tooth disease type 4E | 1 | Oct 2, 2020 |
Charcot-Marie-Tooth disease type 4F | 2 | Dec 16, 2021 |
Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b; | 3 | May 11, 2018 |
Charcot-Marie-Tooth disease, axonal, type 2EE | 1 | Oct 2, 2020 |
Charlevoix-Saguenay spastic ataxia | 1 | May 11, 2018 |
Chondrodysplasia punctata 2 X-linked dominant | 1 | Apr 18, 2023 |
Cleidocranial dysostosis | 1 | Dec 16, 2021 |
Cockayne syndrome type 2 | 1 | Dec 11, 2018 |
Coffin-Siris syndrome 1 | 5 | Sep 20, 2021 |
Cognitive impairment with or without cerebellar ataxia | 1 | Oct 17, 2023 |
Cole-Carpenter syndrome 1 | 1 | Jan 30, 2023 |
Cole-Carpenter syndrome 2 | 2 | Dec 5, 2023 |
Combined oxidative phosphorylation defect type 14 | 1 | Dec 17, 2021 |
Complex cortical dysplasia with other brain malformations 2 | 2 | Jul 30, 2019 |
Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay | 1 | Sep 24, 2024 |
Congenital generalized lipodystrophy type 1 | 1 | Jul 16, 2019 |
Congenital myasthenic syndrome | 1 | May 11, 2018 |
Cornelia de Lange syndrome 1 | 1 | Jul 16, 2019 |
Cortical dysplasia, complex, with other brain malformations 11 | 1 | Jan 10, 2024 |
Cystic fibrosis | 2 | Oct 23, 2020 |
Cystinuria | 3 | Oct 17, 2023 |
DYRK1A-related intellectual disability syndrome | 1 | Jan 30, 2023 |
DeSanto-Shinawi syndrome due to WAC point mutation | 1 | Jan 30, 2023 |
Delayed gross motor development | 1 | Jul 10, 2024 |
Developmental and epileptic encephalopathy, 29 | 3 | Jan 3, 2022 |
Developmental and epileptic encephalopathy, 51 | 1 | Jul 8, 2024 |
Developmental and epileptic encephalopathy, 57 | 1 | Jul 12, 2021 |
Developmental and epileptic encephalopathy, 66 | 1 | Dec 17, 2021 |
Developmental and epileptic encephalopathy, 8 | 1 | Dec 29, 2020 |
Developmental and epileptic encephalopathy, 87 | 1 | May 29, 2024 |
Developmental delay and seizures with or without movement abnormalities | 1 | Dec 5, 2023 |
Developmental delay with variable intellectual impairment and behavioral abnormalities | 1 | Sep 15, 2023 |
Diabetes insipidus, nephrogenic, X-linked | 1 | Oct 24, 2016 |
Diabetes insipidus, nephrogenic, autosomal | 1 | Jun 8, 2017 |
Dias-Logan syndrome | 1 | Mar 30, 2020 |
Dilated cardiomyopathy 1G | 3 | Feb 26, 2024 |
Distal arthrogryposis type 5D | 2 | Dec 4, 2018 |
Distal spinal muscular atrophy | 9 | May 11, 2018 |
Donnai-Barrow syndrome | 2 | Apr 17, 2019 |
Early-onset myopathy with fatal cardiomyopathy | 1 | Jan 10, 2024 |
Ehlers-Danlos syndrome, classic type, 1 | 2 | Aug 8, 2022 |
Ehlers-Danlos syndrome, classic type, 2 | 1 | Apr 2, 2020 |
Ehlers-Danlos syndrome, classic-like, 2 | 1 | Dec 17, 2021 |
Ehlers-Danlos syndrome, periodontal type 1 | 1 | Apr 26, 2024 |
Ehlers-Danlos syndrome, type 4 | 1 | Aug 7, 2017 |
Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 | 1 | Oct 2, 2020 |
Epilepsy, early-onset, with or without developmental delay | 1 | Apr 25, 2022 |
Epilepsy, idiopathic generalized, susceptibility to, 15 | 1 | May 22, 2023 |
Epiphyseal dysplasia, multiple, 3 | 2 | Sep 24, 2024 |
Exostoses, multiple, type 2 | 1 | Aug 8, 2022 |
FRAXE | 1 | Dec 15, 2021 |
Familial X-linked hypophosphatemic vitamin D refractory rickets | 2 | Feb 26, 2024 |
Familial hypocalciuric hypercalcemia 1 | 4 | Jan 6, 2020 |
Familial hypocalciuric hypercalcemia 2 | 1 | Dec 5, 2019 |
Familial hypokalemia-hypomagnesemia | 2 | Sep 6, 2017 |
Familial juvenile hyperuricemic nephropathy type 1 | 4 | Mar 5, 2021 |
Fanconi anemia complementation group A | 3 | Jul 3, 2023 |
Fanconi-Bickel syndrome | 1 | May 31, 2017 |
Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 | 1 | Oct 17, 2023 |
Fetal akinesia deformation sequence 3 | 1 | Dec 17, 2021 |
Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement | 1 | Jan 30, 2019 |
Finnish congenital nephrotic syndrome | 1 | Sep 26, 2019 |
Floating-Harbor syndrome | 1 | Jan 30, 2019 |
Focal segmental glomerulosclerosis 1 | 1 | Jun 6, 2017 |
Focal segmental glomerulosclerosis 8 | 1 | Sep 4, 2020 |
Freeman-Sheldon syndrome | 1 | Jan 25, 2022 |
Friedreich ataxia 1 | 1 | May 11, 2018 |
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 | 1 | May 11, 2018 |
Galloway-Mowat syndrome 3 | 1 | Jan 3, 2022 |
Generalized epilepsy with febrile seizures plus, type 2 | 1 | Aug 8, 2022 |
Giant axonal neuropathy 1 | 1 | May 11, 2018 |
Glycogen storage disease due to muscle beta-enolase deficiency | 1 | Jan 10, 2024 |
Gorlin syndrome | 1 | Dec 17, 2021 |
Growth delay due to insulin-like growth factor I resistance | 1 | Apr 26, 2024 |
Harel-Yoon syndrome | 1 | Dec 5, 2023 |
Hematuria, benign familial, 1 | 1 | Apr 26, 2024 |
Hemolytic uremic syndrome, atypical, susceptibility to, 1 | 4 | Jan 10, 2024 |
Hepatic fibrosis | 1 | Jul 10, 2024 |
Hereditary leiomyomatosis and renal cell cancer | 1 | Mar 9, 2020 |
Hereditary spastic paraplegia 11 | 1 | Oct 2, 2020 |
Hereditary spastic paraplegia 13 | 1 | May 22, 2019 |
Hereditary spastic paraplegia 15 | 2 | May 11, 2018 |
Hereditary spastic paraplegia 55 | 1 | Oct 2, 2020 |
Heterotaxy, visceral, 7, autosomal | 2 | Jul 3, 2023 |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant | 1 | Dec 17, 2021 |
Hyperaldosteronism, familial, type IV | 1 | Sep 20, 2021 |
Hypercalcemia, infantile, 1 | 1 | Nov 14, 2019 |
Hypercholesterolemia, familial, 1 | 1 | Dec 17, 2021 |
Hyperphosphatasia with intellectual disability syndrome 3 | 2 | Apr 25, 2022 |
Hypertrophic cardiomyopathy 9 | 1 | Dec 5, 2023 |
Hyperuricemic nephropathy, familial juvenile type 3 | 2 | Jul 15, 2019 |
Hypocalcemia | 1 | Dec 17, 2021 |
Hypothyroidism, congenital, nongoitrous, 2 | 1 | Dec 17, 2021 |
Immunodeficiency, common variable, 12 | 2 | Dec 17, 2021 |
Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development | 1 | Feb 26, 2024 |
Infantile liver failure syndrome 2 | 1 | Dec 17, 2021 |
Intellectual developmental disorder with autism and macrocephaly | 1 | Dec 17, 2021 |
Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities | 1 | Dec 17, 2021 |
Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold | 1 | Sep 24, 2024 |
Intellectual developmental disorder, autosomal dominant 63, with macrocephaly | 1 | May 22, 2023 |
Intellectual disability | 3 | Dec 17, 2021 |
Intellectual disability, autosomal dominant 1 | 1 | Aug 28, 2020 |
Intellectual disability, autosomal dominant 20 | 1 | May 22, 2023 |
Intellectual disability, autosomal dominant 43 | 1 | Aug 8, 2022 |
Intellectual disability, autosomal dominant 57 | 1 | Apr 6, 2021 |
Intellectual disability, autosomal dominant 6 | 1 | Sep 24, 2024 |
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome | 1 | Dec 17, 2021 |
Kabuki syndrome 1 | 3 | May 11, 2018 |
Kugelberg-Welander disease | 1 | Apr 2, 2020 |
Landau-Kleffner syndrome | 1 | Apr 18, 2023 |
Lesch-Nyhan syndrome | 1 | Aug 8, 2022 |
Lethal multiple pterygium syndrome | 1 | Jan 19, 2018 |
Lissencephaly due to TUBA1A mutation | 1 | Nov 30, 2018 |
Loeys-Dietz syndrome 1 | 1 | Dec 5, 2019 |
Loeys-Dietz syndrome 2 | 1 | Apr 26, 2024 |
Loeys-Dietz syndrome 4 | 2 | Aug 8, 2022 |
Lymphatic malformation 12 | 2 | Sep 24, 2024 |
Malan overgrowth syndrome | 1 | Apr 18, 2023 |
Mandibulofacial dysostosis-microcephaly syndrome | 2 | Apr 25, 2022 |
Marfan syndrome | 17 | May 29, 2024 |
Maturity-onset diabetes of the young type 1 | 1 | Sep 4, 2017 |
Metachromatic leukodystrophy | 1 | Oct 2, 2020 |
Microcephaly 3, primary, autosomal recessive | 1 | Jan 30, 2023 |
Microphthalmia, syndromic 12 | 1 | Dec 17, 2021 |
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | 1 | Dec 17, 2021 |
Mitochondrial complex 1 deficiency, nuclear type 9 | 1 | Oct 2, 2020 |
Mitochondrial myopathy-lactic acidosis-deafness syndrome | 2 | Dec 17, 2021 |
Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency | 1 | Oct 2, 2020 |
Motor axonal neuropathy | 4 | Aug 11, 2020 |
Motor neuron disease | 2 | Dec 17, 2021 |
Mucolipidosis type II | 1 | Dec 6, 2018 |
Multiple congenital anomalies-hypotonia-seizures syndrome 1 | 1 | Nov 5, 2019 |
Multiple endocrine neoplasia, type 1 | 1 | Jun 3, 2020 |
Multiple epiphyseal dysplasia, Beighton type | 1 | Apr 6, 2021 |
Muscular dystrophy | 1 | Dec 17, 2021 |
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 | 1 | Dec 5, 2023 |
Myofibrillar myopathy 11 | 1 | Jan 10, 2024 |
Myosin storage myopathy | 1 | Feb 26, 2024 |
Nail-patella syndrome | 4 | Dec 5, 2019 |
Nephronophthisis 3 | 1 | Jul 14, 2017 |
Nephropathic cystinosis | 2 | Dec 19, 2018 |
Nephrotic syndrome, type 12 | 1 | Sep 15, 2023 |
Nephrotic syndrome, type 3 | 1 | Apr 25, 2022 |
Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures | 1 | Oct 2, 2020 |
Neurodegeneration, childhood-onset, with cerebellar atrophy | 2 | Oct 2, 2020 |
Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures | 1 | Jul 8, 2024 |
Neurodevelopmental disorder with or without autism or seizures | 1 | Apr 26, 2024 |
Neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy | 1 | Oct 17, 2023 |
Neurodevelopmental disorder with speech impairment and dysmorphic facies | 1 | Apr 25, 2022 |
Neurofibromatosis, type 1 | 3 | Jan 10, 2024 |
Neuronopathy, distal hereditary motor, autosomal dominant 8 | 1 | May 11, 2018 |
Neuronopathy, distal hereditary motor, autosomal recessive | 1 | May 11, 2018 |
Neuronopathy, distal hereditary motor, autosomal recessive 4 | 1 | May 11, 2018 |
Neuronopathy, distal hereditary motor, type 2B | 1 | May 11, 2018 |
Neuronopathy, distal hereditary motor, type 5A | 1 | May 11, 2018 |
Neuropathy, hereditary motor and sensory, type VIc, with optic atrophy | 1 | Oct 2, 2020 |
Nicolaides-Baraitser syndrome | 1 | Oct 24, 2016 |
Noonan syndrome 10 | 1 | Aug 9, 2018 |
Noonan syndrome 5 | 1 | Apr 25, 2023 |
O'Donnell-Luria-Rodan syndrome | 17 | May 11, 2021 |
Ocular albinism, type I | 1 | Feb 26, 2024 |
Ocular cystinosis | 1 | Mar 24, 2020 |
Oculocerebrofacial syndrome, Kaufman type | 1 | Jan 30, 2023 |
Oculofaciocardiodental syndrome | 1 | Dec 17, 2021 |
Opsismodysplasia | 1 | Nov 28, 2018 |
Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome | 1 | Oct 2, 2020 |
Osteogenesis imperfecta | 6 | Dec 17, 2021 |
Osteogenesis imperfecta type 11 | 1 | May 21, 2019 |
Osteogenesis imperfecta type 15 | 1 | Sep 24, 2024 |
Osteogenesis imperfecta type 6 | 1 | Mar 21, 2019 |
Osteogenesis imperfecta type 7 | 1 | Aug 2, 2017 |
Osteogenesis imperfecta type 8 | 2 | Nov 2, 2022 |
Osteogenesis imperfecta type I | 9 | Jun 9, 2020 |
Osteogenesis imperfecta with normal sclerae, dominant form | 2 | Jul 8, 2024 |
Osteogenesis imperfecta, perinatal lethal | 6 | Jul 8, 2024 |
Otospondylomegaepiphyseal dysplasia, autosomal recessive | 1 | Sep 28, 2020 |
PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome | 1 | Sep 24, 2024 |
PPARG-related familial partial lipodystrophy | 1 | Jan 30, 2023 |
Papillary renal cell carcinoma type 1 | 1 | Jan 17, 2018 |
Partington syndrome | 1 | Dec 17, 2021 |
Peroxisome biogenesis disorder 7A (Zellweger) | 1 | May 22, 2023 |
Persistent hyperplastic primary vitreous, autosomal recessive | 1 | May 22, 2023 |
Pheochromocytoma | 1 | Nov 21, 2019 |
Pierson syndrome | 1 | Jun 30, 2017 |
Polycystic kidney disease 2 | 7 | Feb 26, 2024 |
Polycystic kidney disease 4 | 2 | Apr 26, 2024 |
Polycystic kidney disease 6 with or without polycystic liver disease | 3 | May 29, 2024 |
Polycystic kidney disease, adult type | 23 | Sep 24, 2024 |
Pontocerebellar hypoplasia type 1B | 1 | Oct 2, 2020 |
Pontocerebellar hypoplasia type 2D | 2 | Oct 2, 2020 |
Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal | 1 | Dec 5, 2023 |
Postmenopausal osteoporosis | 1 | Mar 21, 2019 |
Primary ciliary dyskinesia 2 | 1 | Dec 5, 2023 |
Primary ciliary dyskinesia 9 | 1 | Apr 18, 2023 |
Primary hyperoxaluria, type I | 1 | Apr 26, 2022 |
Primary hyperoxaluria, type II | 1 | Dec 19, 2018 |
Progressive scapulohumeroperoneal distal myopathy | 1 | May 11, 2018 |
Proximal spinal muscular atrophy | 3 | May 11, 2018 |
Pseudohypoaldosteronism type 2B | 1 | Feb 14, 2018 |
Pseudohypoparathyroidism type I A | 1 | Mar 13, 2024 |
Pulmonary venoocclusive disease 1 | 2 | Dec 17, 2021 |
Recurrent fractures | 1 | May 2, 2023 |
Reduced bone mineral density | 1 | May 2, 2023 |
Renal hypodysplasia/aplasia 3 | 1 | Dec 17, 2021 |
Rhabdomyolysis, susceptibility to, 1 | 1 | May 29, 2024 |
SIN3A-related intellectual disability syndrome due to a point mutation | 1 | May 22, 2023 |
Saldino-Mainzer syndrome | 1 | Dec 17, 2021 |
Schaaf-Yang syndrome | 1 | Jan 11, 2019 |
Schimke immuno-osseous dysplasia | 2 | Jan 7, 2019 |
Scoliosis | 1 | May 2, 2023 |
Seizures, benign familial infantile, 3 | 1 | Dec 5, 2023 |
Seizures, benign familial infantile, 5 | 1 | Apr 18, 2023 |
Seizures, benign familial neonatal, 1 | 1 | Jul 8, 2024 |
Senior-Loken syndrome 8 | 2 | May 22, 2023 |
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | 2 | Mar 20, 2024 |
Severe dermatitis-multiple allergies-metabolic wasting syndrome | 2 | Apr 25, 2022 |
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome | 1 | Sep 15, 2023 |
Short stature | 1 | May 2, 2023 |
Sifrim-Hitz-Weiss syndrome | 1 | Sep 4, 2020 |
Spectraplakinopathy type I | 6 | Oct 2, 2020 |
Spinal muscular atrophy, facioscapulohumeral type | 1 | May 11, 2018 |
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 | 1 | May 11, 2018 |
Splenomegaly | 1 | Jul 10, 2024 |
Spondyloepiphyseal dysplasia with congenital joint dislocations | 1 | Oct 5, 2023 |
Stickler syndrome, type I, nonsyndromic ocular | 1 | Jul 12, 2021 |
Stuve-Wiedemann syndrome | 2 | Feb 1, 2021 |
Tatton-Brown-Rahman overgrowth syndrome | 1 | May 22, 2019 |
Temple-Baraitser syndrome | 1 | Sep 4, 2019 |
Townes-Brocks syndrome 1 | 1 | Aug 8, 2022 |
Treacher Collins syndrome 1 | 1 | Jul 8, 2024 |
Tuberous sclerosis 2 | 4 | Jul 8, 2024 |
Tyrosinase-positive oculocutaneous albinism | 1 | Nov 6, 2020 |
Ullrich congenital muscular dystrophy 2 | 1 | May 11, 2018 |
Usher syndrome type 1C | 1 | May 13, 2024 |
Usher syndrome type 1F | 1 | Dec 3, 2021 |
Usher syndrome type 1G | 1 | Jan 30, 2023 |
VISS syndrome | 1 | Dec 5, 2023 |
Vissers-Bodmer syndrome | 2 | Sep 24, 2024 |
Von Hippel-Lindau syndrome | 2 | Mar 5, 2021 |
Weaver syndrome | 1 | Jul 16, 2019 |
Wilms tumor 1 | 1 | Jun 8, 2017 |
X-linked Alport syndrome | 13 | Jul 8, 2024 |
X-linked distal spinal muscular atrophy type 3 | 1 | May 11, 2018 |
X-linked intellectual disability, Cantagrel type | 1 | Nov 2, 2020 |
ZTTK syndrome | 1 | May 22, 2019 |
autosomal recessive PIEZO2 associated disease | 1 | Oct 24, 2016 |
not specified | 1 | Sep 28, 2017 |