ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder | 1 | Mar 2, 2017 |
AFib amyloidosis | 1 | Mar 20, 2018 |
Abnormal circulating lipid concentration | 1 | Mar 18, 2016 |
Abnormal facial shape | 1 | Jun 29, 2018 |
Adult hypophosphatasia | 1 | Feb 1, 2019 |
Adult polyglucosan body disease | 2 | May 19, 2017 |
Aganglionic megacolon | 3 | Jul 5, 2019 |
Alpha thalassemia-X-linked intellectual disability syndrome | 1 | Dec 8, 2016 |
Amyotrophic lateral sclerosis | 2 | Jul 5, 2019 |
Anemia, nonspherocytic hemolytic, due to G6PD deficiency | 1 | Nov 14, 2023 |
Aneurysm-osteoarthritis syndrome | 1 | Jun 28, 2021 |
Aniridia 1 | 1 | Feb 1, 2019 |
Arrhythmogenic right ventricular cardiomyopathy | 1 | Feb 14, 2017 |
Arteriohepatic dysplasia | 1 | Mar 20, 2018 |
Arthrogryposis multiplex congenita | 3 | Mar 8, 2021 |
Asphyxiating thoracic dystrophy 3 | 2 | May 19, 2017 |
Ataxia-telangiectasia syndrome | 5 | May 19, 2017 |
Atypical behavior | 1 | Jun 21, 2016 |
Autistic behavior | 3 | Jun 29, 2018 |
Autosomal dominant Alport syndrome | 1 | Jun 28, 2021 |
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome | 1 | Feb 1, 2019 |
Autosomal dominant nocturnal frontal lobe epilepsy 4 | 1 | Feb 1, 2019 |
Autosomal dominant nonsyndromic hearing loss 15 | 1 | Jun 28, 2021 |
Autosomal dominant nonsyndromic hearing loss 20 | 3 | Jul 5, 2021 |
Autosomal dominant nonsyndromic hearing loss 22 | 1 | Mar 2, 2017 |
Autosomal dominant nonsyndromic hearing loss 23 | 1 | Jun 28, 2021 |
Autosomal dominant nonsyndromic hearing loss 25 | 1 | Jun 28, 2021 |
Autosomal dominant nonsyndromic hearing loss 65 | 1 | Jun 28, 2021 |
Autosomal dominant nonsyndromic hearing loss 67 | 1 | Jun 28, 2021 |
Autosomal dominant nonsyndromic hearing loss 9 | 1 | Jun 28, 2021 |
Autosomal dominant optic atrophy classic form | 1 | Nov 15, 2017 |
Autosomal dominant pseudohypoaldosteronism type 1 | 1 | Jun 13, 2017 |
Autosomal recessive Alport syndrome | 2 | Mar 2, 2017 |
Autosomal recessive limb-girdle muscular dystrophy type 2A | 1 | Oct 19, 2023 |
Autosomal recessive multiple pterygium syndrome | 1 | Oct 23, 2023 |
Autosomal recessive nonsyndromic hearing loss 12 | 3 | Jul 5, 2021 |
Autosomal recessive nonsyndromic hearing loss 16 | 6 | Jul 5, 2021 |
Autosomal recessive nonsyndromic hearing loss 1A | 3 | Jul 5, 2021 |
Autosomal recessive nonsyndromic hearing loss 2 | 1 | Mar 2, 2017 |
Autosomal recessive nonsyndromic hearing loss 22 | 1 | Jul 5, 2021 |
Autosomal recessive nonsyndromic hearing loss 23 | 2 | Jul 5, 2021 |
Autosomal recessive nonsyndromic hearing loss 28 | 1 | Jun 28, 2021 |
Autosomal recessive nonsyndromic hearing loss 3 | 1 | Jun 28, 2021 |
Autosomal recessive nonsyndromic hearing loss 42 | 1 | Jul 5, 2019 |
Autosomal recessive nonsyndromic hearing loss 49 | 1 | Jun 28, 2021 |
Autosomal recessive nonsyndromic hearing loss 53 | 2 | Jul 5, 2021 |
Autosomal recessive nonsyndromic hearing loss 77 | 1 | Jun 28, 2021 |
Autosomal recessive nonsyndromic hearing loss 8 | 4 | Jul 5, 2021 |
Autosomal recessive nonsyndromic hearing loss 86 | 2 | Feb 1, 2019 |
Autosomal recessive polycystic kidney disease | 2 | Feb 1, 2019 |
BAP1-related tumor predisposition syndrome | 1 | Nov 15, 2017 |
Benign familial hematuria | 1 | Feb 1, 2019 |
Benign hereditary chorea | 1 | Nov 15, 2017 |
Bernard Soulier syndrome | 1 | Mar 20, 2018 |
Beta-D-mannosidosis | 2 | Oct 23, 2023 |
Bilateral ptosis | 1 | Jun 21, 2016 |
Bilateral sensorineural hearing impairment | 1 | Sep 13, 2016 |
Blepharophimosis - intellectual disability syndrome, SBBYS type | 1 | Jun 21, 2016 |
Branchiootic syndrome 1 | 1 | Jul 5, 2019 |
Branchiootic syndrome 3 | 1 | Jun 28, 2021 |
CARASIL syndrome | 1 | Feb 14, 2017 |
CFHR5 deficiency | 1 | May 3, 2016 |
CHARGE association | 3 | Oct 19, 2023 |
Capillary malformation-arteriovenous malformation 1 | 1 | Mar 20, 2018 |
Cardiac anomalies - developmental delay - facial dysmorphism syndrome | 1 | Jul 6, 2017 |
Cardiac arrhythmia, ankyrin-B-related | 1 | Jun 21, 2016 |
Cardiomyopathy | 1 | Mar 20, 2018 |
Catecholaminergic polymorphic ventricular tachycardia 1 | 1 | Dec 8, 2016 |
Central core myopathy | 1 | Feb 1, 2019 |
Cerebellar ataxia | 1 | Feb 14, 2017 |
Cerebellar dysfunction with variable cognitive and behavioral abnormalities | 1 | Jun 21, 2016 |
Charcot-Marie-Tooth disease X-linked dominant 1 | 1 | Jul 5, 2019 |
Charcot-Marie-Tooth disease axonal type 2P | 1 | Jun 21, 2016 |
Charlevoix-Saguenay spastic ataxia | 1 | Mar 2, 2017 |
Childhood onset GLUT1 deficiency syndrome 2 | 1 | Jul 6, 2017 |
Cholestasis, progressive familial intrahepatic, 4 | 2 | Mar 2, 2017 |
Chorea | 1 | Feb 14, 2017 |
Clinodactyly of the 4th toe | 1 | Jun 29, 2018 |
Clinodactyly of the 5th finger | 1 | Jun 29, 2018 |
Cohen syndrome | 2 | May 3, 2016 |
Congenital contracture | 1 | Dec 8, 2016 |
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder | 1 | Jun 29, 2018 |
Congenital muscular hypertrophy-cerebral syndrome | 2 | Jun 13, 2017 |
Congenital myasthenic syndrome 8 | 1 | Feb 14, 2017 |
Congenital myopathy 23 | 1 | May 19, 2017 |
Congenital myopathy with fiber type disproportion | 1 | May 19, 2017 |
Continuous spike and waves during slow sleep | 1 | Nov 15, 2017 |
Cornelia de Lange syndrome 1 | 1 | Dec 8, 2016 |
Creatine transporter deficiency | 1 | Oct 19, 2023 |
Cronkhite-Canada syndrome | 1 | Sep 13, 2016 |
Cystinuria | 1 | Jun 21, 2016 |
DNA ligase IV deficiency | 2 | Dec 8, 2016 |
DYRK1A-related intellectual disability syndrome | 2 | Jun 13, 2017 |
De Lange syndrome | 3 | Jul 5, 2019 |
Deafness-infertility syndrome | 1 | Jun 28, 2021 |
Deeply set eye | 1 | Sep 13, 2016 |
Deficiency of guanidinoacetate methyltransferase | 2 | Jul 5, 2019 |
Delayed speech and language development | 1 | Jul 6, 2017 |
Dentinogenesis imperfecta type 2 | 1 | Oct 19, 2023 |
Desmin-related myofibrillar myopathy | 1 | Feb 14, 2017 |
Developmental and epileptic encephalopathy, 19 | 1 | Mar 2, 2017 |
Developmental and epileptic encephalopathy, 2 | 2 | Jun 13, 2017 |
Developmental and epileptic encephalopathy, 27 | 1 | Dec 8, 2016 |
Developmental and epileptic encephalopathy, 4 | 2 | Nov 15, 2017 |
Developmental and epileptic encephalopathy, 7 | 3 | Jul 6, 2017 |
Dilated cardiomyopathy 1A | 1 | Feb 1, 2019 |
Dilated cardiomyopathy 1C | 1 | Feb 1, 2019 |
Dilated cardiomyopathy 1D | 2 | Jun 13, 2017 |
Dilated cardiomyopathy 1G | 4 | Oct 19, 2023 |
Dilated cardiomyopathy 1KK | 1 | Jun 29, 2018 |
Disproportionate tall stature | 1 | Nov 15, 2017 |
Early infantile epileptic encephalopathy with suppression bursts | 1 | Mar 20, 2018 |
Effort-induced polymorphic ventricular tachycardia | 1 | Jun 21, 2016 |
Ehlers-Danlos syndrome, classic type | 1 | Mar 18, 2016 |
Encephalopathy due to GLUT1 deficiency | 1 | Nov 15, 2017 |
Epilepsy | 1 | Mar 20, 2018 |
Epilepsy, familial focal, with variable foci 1 | 1 | Jul 5, 2019 |
Epileptic encephalopathy | 1 | Feb 14, 2017 |
Episodic ataxia type 2 | 1 | May 3, 2016 |
Exostoses, multiple, type 1 | 1 | Nov 15, 2017 |
Familial X-linked hypophosphatemic vitamin D refractory rickets | 2 | Jun 29, 2018 |
Familial amyloid nephropathy with urticaria AND deafness | 1 | Dec 8, 2016 |
Familial cancer of breast | 2 | Nov 15, 2017 |
Familial encephalopathy with neuroserpin inclusion bodies | 2 | May 19, 2017 |
Familial hypokalemia-hypomagnesemia | 3 | Feb 1, 2019 |
Familial isolated dilated cardiomyopathy | 2 | Jun 29, 2018 |
Familial isolated hyperparathyroidism | 1 | Jun 29, 2018 |
Familial juvenile hyperuricemic nephropathy type 1 | 1 | Mar 2, 2017 |
Familial temporal lobe epilepsy 5 | 1 | Jun 13, 2017 |
Familial thoracic aortic aneurysm and aortic dissection | 1 | Jan 12, 2021 |
Fraser syndrome 1 | 2 | Oct 23, 2023 |
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 | 1 | Feb 14, 2017 |
Functional motor deficit | 1 | Sep 13, 2016 |
GLUT1 deficiency syndrome | 1 | Feb 1, 2019 |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions | 2 | Jun 13, 2017 |
Generalized dystonia | 1 | Sep 13, 2016 |
Global developmental delay | 2 | Jun 13, 2017 |
Glomerulopathy | 1 | Mar 2, 2017 |
Gorlin syndrome | 1 | Feb 1, 2019 |
Granulomatous disease, chronic, X-linked | 1 | Nov 15, 2017 |
Hartsfield-Bixler-Demyer syndrome | 1 | Jun 29, 2018 |
Hearing loss, autosomal dominant 37 | 3 | Jul 5, 2021 |
Hearing loss, autosomal recessive | 1 | Mar 20, 2018 |
Hematuria | 1 | Mar 2, 2017 |
Hereditary episodic ataxia | 1 | Mar 18, 2016 |
Hereditary motor and sensory neuropathy with optic atrophy | 1 | May 19, 2017 |
Hereditary pancreatitis | 2 | Feb 1, 2019 |
Hereditary spastic paraplegia 4 | 3 | Oct 19, 2023 |
Hereditary spastic paraplegia 56 | 2 | Jul 6, 2017 |
Hereditary spastic paraplegia 7 | 2 | Nov 15, 2017 |
Hereditary spastic paraplegia 8 | 2 | Nov 15, 2017 |
Hiatt-Neu-Cooper neurodevelopmental syndrome | 1 | Oct 23, 2023 |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant | 1 | Nov 15, 2017 |
Hyperinsulinemic hypoglycemia, familial, 2 | 2 | Jun 21, 2016 |
Hyperinsulinism-hyperammonemia syndrome | 1 | May 3, 2016 |
Hypertonia | 1 | Jul 6, 2017 |
Hypertrophic cardiomyopathy | 5 | Jul 5, 2019 |
Hypertrophic cardiomyopathy 1 | 1 | Nov 15, 2017 |
Hypertrophic cardiomyopathy 15 | 1 | Jun 13, 2017 |
Hypertrophic cardiomyopathy 4 | 16 | Oct 23, 2023 |
Hypertrophic cardiomyopathy 8 | 1 | Jun 29, 2018 |
Hypogonadotropic hypogonadism 2 with or without anosmia | 1 | Dec 8, 2016 |
Hypoparathyroidism, deafness, renal disease syndrome | 2 | Jun 28, 2021 |
Hypophosphatemic rickets, X-linked recessive | 1 | Jun 29, 2018 |
Imerslund-Grasbeck syndrome | 2 | Jul 5, 2019 |
Immunodeficiency 14 | 1 | Jun 13, 2017 |
Immunodeficiency, common variable, 2 | 1 | Jul 6, 2017 |
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 | 1 | Jun 29, 2018 |
Infantile muscular hypotonia | 1 | Jun 13, 2017 |
Infantile nephronophthisis | 2 | Jul 5, 2019 |
Intellectual developmental disorder with autism and macrocephaly | 1 | May 19, 2017 |
Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies | 2 | Oct 23, 2023 |
Intellectual disability | 4 | Jun 13, 2017 |
Intellectual disability syndrome due to a DYRK1A point mutation | 1 | Mar 20, 2018 |
Intellectual disability, X-linked 1 | 1 | Dec 8, 2016 |
Intellectual disability, autosomal dominant 22 | 1 | Mar 2, 2017 |
Intellectual disability, autosomal dominant 29 | 1 | Mar 18, 2016 |
Intellectual disability, autosomal dominant 4 | 1 | Mar 18, 2016 |
Intellectual disability, autosomal dominant 5 | 2 | Jun 13, 2017 |
Intellectual disability, autosomal dominant 8 | 1 | Mar 2, 2017 |
Intellectual disability, mild | 1 | Jul 5, 2019 |
Intellectual disability-severe speech delay-mild dysmorphism syndrome | 1 | Jul 6, 2017 |
Isolated anophthalmia-microphthalmia syndrome | 1 | Jun 29, 2018 |
Joubert syndrome 33 | 1 | Jul 12, 2021 |
Junctional epidermolysis bullosa, non-Herlitz type | 1 | Nov 15, 2017 |
KBG syndrome | 2 | Jun 13, 2017 |
Kabuki syndrome 1 | 4 | Jul 6, 2017 |
Kabuki syndrome 2 | 1 | Dec 8, 2016 |
Karyomegalic interstitial nephritis | 2 | May 19, 2017 |
Kleefstra syndrome 1 | 1 | Oct 19, 2023 |
LEOPARD syndrome 1 | 1 | May 3, 2016 |
Landau-Kleffner syndrome | 1 | Jun 29, 2018 |
Leber congenital amaurosis | 2 | Jun 29, 2018 |
Lethal congenital contracture syndrome 11 | 1 | Jun 29, 2018 |
Lissencephaly due to LIS1 mutation | 1 | Feb 14, 2017 |
Long QT syndrome 2 | 2 | Jul 5, 2019 |
Macrocephaly | 1 | Sep 13, 2016 |
Marfan syndrome | 5 | Jul 5, 2019 |
Marshall syndrome | 3 | Jul 5, 2021 |
Melanoma-pancreatic cancer syndrome | 1 | Feb 1, 2019 |
Microcephalic osteodysplastic primordial dwarfism type II | 1 | Jun 13, 2017 |
Microcephaly | 1 | Sep 13, 2016 |
Microcephaly 5, primary, autosomal recessive | 2 | Sep 13, 2016 |
Microcephaly 8, primary, autosomal recessive | 1 | Jul 6, 2017 |
Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome | 1 | Jun 29, 2018 |
Microcytic anemia | 1 | Feb 1, 2019 |
Migraine, familial hemiplegic, 1 | 3 | Jun 13, 2017 |
Mitochondrial complex III deficiency nuclear type 2 | 1 | May 19, 2017 |
Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency | 2 | Feb 14, 2017 |
Moderate global developmental delay | 3 | Jun 29, 2018 |
Multiple congenital anomalies-hypotonia-seizures syndrome 2 | 1 | Dec 8, 2016 |
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 | 1 | Nov 15, 2017 |
Mutism | 1 | Dec 8, 2016 |
Myoclonic dystonia 11 | 1 | Dec 8, 2016 |
Nemaline myopathy 9 | 2 | Jul 5, 2019 |
Neurodegeneration with brain iron accumulation 5 | 2 | Oct 23, 2023 |
Neurodevelopmental delay | 1 | Jun 21, 2016 |
Neurofibromatosis, type 1 | 10 | Jun 29, 2018 |
Neurofibromatosis, type 2 | 1 | Jun 28, 2021 |
Neurofibromatosis-Noonan syndrome | 1 | Jun 29, 2018 |
Neuronal ceroid lipofuscinosis 10 | 1 | Mar 18, 2016 |
Nicolaides-Baraitser syndrome | 1 | Feb 14, 2017 |
Nonsyndromic genetic hearing loss | 1 | Mar 20, 2018 |
Noonan syndrome | 1 | Jun 29, 2018 |
Noonan syndrome 1 | 6 | Feb 1, 2019 |
Noonan syndrome 2 | 2 | Oct 19, 2023 |
Noonan syndrome 4 | 1 | Jul 6, 2017 |
Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy | 1 | Jun 28, 2021 |
Osteogenesis imperfecta | 2 | Feb 1, 2019 |
Osteogenesis imperfecta type I | 1 | Oct 19, 2023 |
Palmoplantar keratoderma-deafness syndrome | 1 | Jun 28, 2021 |
Paroxysmal extreme pain disorder | 1 | Jun 13, 2017 |
Pelizaeus-Merzbacher disease | 1 | Mar 2, 2017 |
Peroxisome biogenesis disorder 1A (Zellweger) | 2 | Jul 5, 2019 |
Perrault syndrome | 2 | Jul 5, 2019 |
Pettigrew syndrome | 1 | Feb 14, 2017 |
Pheochromocytoma | 1 | Mar 2, 2017 |
Pitt-Hopkins syndrome | 3 | Jul 5, 2019 |
Pituitary adenoma 5, multiple types | 1 | Jul 5, 2021 |
Polycystic kidney disease 2 | 1 | Mar 2, 2017 |
Presynaptic congenital myasthenic syndrome | 1 | Jun 29, 2018 |
Primary ciliary dyskinesia | 2 | Mar 20, 2018 |
Primary ciliary dyskinesia 2 | 1 | Nov 15, 2017 |
Primary dilated cardiomyopathy | 4 | Mar 20, 2018 |
Profound global developmental delay | 1 | Feb 14, 2017 |
Progressive familial intrahepatic cholestasis type 1 | 2 | Oct 19, 2023 |
Prolonged QT interval | 1 | Mar 2, 2017 |
Psychotic disorder | 1 | Dec 8, 2016 |
Pyruvate dehydrogenase E1-alpha deficiency | 1 | Jul 6, 2017 |
Renal hypoplasia | 1 | Jun 21, 2016 |
Retinitis pigmentosa 39 | 2 | Jul 5, 2021 |
Rett syndrome | 1 | Mar 2, 2017 |
Rhabdoid tumor predisposition syndrome 1 | 1 | Jul 5, 2019 |
Rubinstein-Taybi syndrome due to CREBBP mutations | 2 | Jun 29, 2018 |
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | 1 | Mar 2, 2017 |
Seizure | 6 | Jul 5, 2019 |
Seizures, benign familial infantile, 3 | 1 | Jul 5, 2019 |
Seizures, benign familial neonatal, 1 | 1 | May 3, 2016 |
Severe early-childhood-onset retinal dystrophy | 1 | Jul 6, 2017 |
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome | 1 | Sep 13, 2016 |
Severe intellectual disability-progressive spastic diplegia syndrome | 1 | Jun 21, 2016 |
Severe myoclonic epilepsy in infancy | 1 | Sep 13, 2016 |
Severe postnatal growth retardation | 1 | Mar 20, 2018 |
Smith-Lemli-Opitz syndrome | 2 | Mar 2, 2017 |
Specific learning disability | 1 | Sep 13, 2016 |
Spinocerebellar ataxia type 5 | 1 | May 3, 2016 |
Spondyloepimetaphyseal dysplasia, PAPSS2 type | 1 | Oct 19, 2023 |
Spondyloepiphyseal dysplasia congenita | 1 | Feb 1, 2019 |
Stickler syndrome type 2 | 3 | Jul 5, 2021 |
Storage pool disease of platelets | 1 | Jun 29, 2018 |
Syndromic X-linked intellectual disability Claes-Jensen type | 1 | Dec 8, 2016 |
Syndromic X-linked intellectual disability Najm type | 1 | Jun 13, 2017 |
Synostosis involving bones of the lower limbs | 1 | Mar 20, 2018 |
TNF receptor-associated periodic fever syndrome (TRAPS) | 1 | Mar 20, 2018 |
Telangiectasia, hereditary hemorrhagic, type 1 | 2 | Jul 6, 2017 |
Telangiectasia, hereditary hemorrhagic, type 2 | 3 | Jul 5, 2019 |
Thrombocytopenia 2 | 1 | Jul 5, 2019 |
Tuberous sclerosis 1 | 1 | Feb 14, 2017 |
Tuberous sclerosis 2 | 4 | Jun 13, 2017 |
Tyrosinase-negative oculocutaneous albinism | 3 | Jun 29, 2018 |
Usher syndrome type 1D | 1 | Jul 5, 2021 |
Usher syndrome type 1G | 1 | Jun 28, 2021 |
Usher syndrome type 2 | 2 | Jul 5, 2019 |
Usher syndrome type 2A | 4 | Jul 5, 2021 |
Vertigo | 1 | Mar 18, 2016 |
Wolfram-like syndrome | 1 | Jun 28, 2021 |
X-linked Alport syndrome | 5 | Jun 28, 2021 |
X-linked hydrocephalus syndrome | 1 | May 3, 2016 |
X-linked intellectual disability Cabezas type | 2 | Feb 1, 2019 |
X-linked intellectual disability, Cantagrel type | 1 | Mar 2, 2017 |
Xeroderma pigmentosum variant type | 1 | Jan 3, 2024 |