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Center of Genomic medicine, Geneva (University Hospital of Geneva), GenMed_GVA

General information

Center of Genomic medicine, Geneva, GenMed_GVA
University Hospital of Geneva
Rue Gabrielle Perret-Gentil 4
Geneva
Geneve
Switzerland - 1211
http://www.hug-ge.ch/centre-de-medecine-genetique-0
Organization ID: 505593

Personnel

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 395

Gene

GeneSubmissionsLast Updated
ABCA41Jul 6, 2017
ABCC91Feb 14, 2017
ACTG13Jul 5, 2021
ACVRL13Jul 5, 2019
ADGRV12Jul 5, 2019
ADNP1Mar 2, 2017
AGRN1Feb 14, 2017
ALDH1A31Jun 29, 2018
ALDH1A3-AS11Jun 29, 2018
ALPL1Feb 1, 2019
ANK21Jun 21, 2016
ANKRD112Jun 13, 2017
ANKRD261Jul 5, 2019
AP1S21Feb 14, 2017
APOE1Mar 18, 2016
ARFGEF1-DT1Jun 13, 2017
ARID1B1Feb 14, 2017
ASPM2Sep 13, 2016
ASXL12Jul 6, 2017
ASXL31Sep 13, 2016
ATM6Nov 15, 2017
ATRX1Dec 8, 2016
BAP11Nov 15, 2017
BRF11Jun 13, 2017
C11orf655Nov 15, 2017
CACNA1A5Jun 13, 2017
CAMTA11Jun 21, 2016
CASD11Dec 8, 2016
CASK1Jun 13, 2017
CATSPER22Jul 5, 2021
CCNF1Feb 1, 2019
CCNH1Mar 20, 2018
CDH233Jul 5, 2021
CDK131Jun 29, 2018
CDKL53Mar 20, 2018
CDKN2A1Feb 1, 2019
CEP1351Jul 6, 2017
CFHR51May 3, 2016
CFTR2Feb 1, 2019
CFTR-AS11Feb 1, 2019
CHD72Mar 20, 2018
CHD81May 19, 2017
CHEK21Jul 6, 2017
CHRNA22Feb 1, 2019
CHRNB21Sep 13, 2016
CKMT1B4Jul 5, 2021
CLCN51Jun 29, 2018
COCH1Jun 28, 2021
COL11A13Jul 5, 2021
COL11A22Jul 5, 2021
COL2A11Feb 1, 2019
COL4A11Feb 1, 2019
COL4A34Jun 28, 2021
COL4A41Feb 1, 2019
COL4A55Jun 28, 2021
COL5A11Mar 18, 2016
COL6A31Dec 8, 2016
COL9A31Sep 13, 2016
CPA61Jun 13, 2017
CREBBP2Jun 29, 2018
CTNNB11Jun 21, 2016
CTSD1Mar 18, 2016
CUBN2Jul 5, 2019
CUL4B2Feb 1, 2019
CYBB1Nov 15, 2017
CYP2U12Jul 6, 2017
CYP2U1-AS11Jul 6, 2017
DEPDC51Jul 5, 2019
DES1Feb 14, 2017
DHCR72Mar 2, 2017
DNAAF32Mar 20, 2018
DNAH51Mar 20, 2018
DSG21Jun 29, 2018
DSP1Jun 21, 2016
DUSP291Jun 21, 2016
DYNC2H12May 19, 2017
DYRK1A3Mar 20, 2018
ECHS12Feb 14, 2017
ELN1Jan 12, 2021
ELN-AS11Jan 12, 2021
ENG2Jul 6, 2017
EP3001Mar 2, 2017
ERGIC11Mar 8, 2021
EXT11Nov 15, 2017
EYA11Jun 21, 2016
FAN12May 19, 2017
FBN15Jul 5, 2019
FGA1Mar 20, 2018
FGFR12Jun 29, 2018
FLNB1Mar 20, 2018
FOXP11Jul 6, 2017
GABRA11Mar 2, 2017
GAMT2Jul 5, 2019
GATA32Jun 28, 2021
GBE12May 19, 2017
GFI1B1Jun 29, 2018
GJB11Jul 5, 2019
GJB24Jul 5, 2021
GLDN1Jun 29, 2018
GLI32Sep 13, 2016
GLUD11May 3, 2016
GP1BA1Mar 20, 2018
GRIN11Mar 2, 2017
GRIN2A2Jun 29, 2018
GRIN2B1Dec 8, 2016
GRN2Jun 13, 2017
HTRA11Feb 14, 2017
ILDR11Jul 5, 2019
IQSEC22Dec 8, 2016
JAG11Mar 20, 2018
JUP1May 19, 2017
KARS11Mar 20, 2018
KAT6B1Jun 21, 2016
KCNH22Jul 5, 2019
KCNJ112Jun 21, 2016
KCNQ24Jul 6, 2017
KDM5C1Dec 8, 2016
KDM6A1Dec 8, 2016
KIRREL31Mar 18, 2016
KLHL412Jul 5, 2019
KMT2A1Jun 21, 2016
KMT2D4Jul 6, 2017
L1CAM1May 3, 2016
LAMB31Nov 15, 2017
LARGE11Nov 15, 2017
LARS22Jul 5, 2019
LARS2-AS11Jul 5, 2019
LDB31Feb 1, 2019
LIG42Dec 8, 2016
LMNA1Feb 1, 2019
LOC1005060711Jun 28, 2021
LOC1027235661Jul 6, 2017
LOC1027240582Nov 15, 2017
LOC1053715661Jun 28, 2021
LOC1060293121Sep 13, 2016
LOC1101215021Mar 20, 2018
LOC1116744721Feb 1, 2019
LOXHD12Jun 28, 2021
LRSAM11Jun 21, 2016
MARVELD21Jun 28, 2021
MCS+9.71Mar 20, 2018
MECP21Mar 2, 2017
MED13L1Jul 6, 2017
MEN11Jun 29, 2018
MFF-DT4Jun 28, 2021
MFN21May 19, 2017
MTMR101May 19, 2017
MYBPC314Feb 1, 2019
MYH61Mar 2, 2017
MYH72Jul 5, 2019
MYL21Mar 20, 2018
MYL31Jun 29, 2018
MYO15A1Jun 28, 2021
MYO61Mar 2, 2017
MYO7A1Mar 2, 2017
MYO9A1Jun 29, 2018
MYPN2Jul 5, 2019
NCF11Sep 13, 2016
NEXMIF2Nov 15, 2017
NF111Jun 29, 2018
NF21Jun 28, 2021
NIPBL2Feb 1, 2019
NKX2-11Nov 15, 2017
NLRP31Dec 8, 2016
NR3C21Jun 13, 2017
OPA12Jun 28, 2021
OSBPL21Jun 28, 2021
OTOA1Jul 5, 2021
PAFAH1B11Feb 14, 2017
PAX61Feb 1, 2019
PCDH152Jul 5, 2021
PCNT1Jun 13, 2017
PDHA11Jul 6, 2017
PEX62Jul 5, 2019
PGK11Feb 14, 2017
PHEX2Jun 29, 2018
PIBF11Jul 12, 2021
PIGA1Dec 8, 2016
PIK3CD1Jun 13, 2017
PKD21Mar 2, 2017
PKHD12Feb 1, 2019
PLP11Mar 2, 2017
POU4F31Jun 28, 2021
PTCH11Feb 1, 2019
PTCHD1-AS1May 3, 2016
PTPN118Feb 1, 2019
RAB9B1Mar 2, 2017
RASA11Mar 20, 2018
RET2Jul 5, 2019
RPGRIP12Jun 29, 2018
RYR13Feb 1, 2019
RYR21Dec 8, 2016
SACS1Mar 2, 2017
SCN1A3Jul 5, 2019
SCN1A-AS11Jun 13, 2017
SCN2A2Jul 5, 2019
SCN4B1Feb 14, 2017
SCN8A1Mar 20, 2018
SCN9A1Jun 13, 2017
SEMA3D1Mar 20, 2018
SERPINI12May 19, 2017
SETBP11Mar 18, 2016
SFTA31Nov 15, 2017
SGCE1Dec 8, 2016
SHANK21Dec 8, 2016
SHANK31Dec 8, 2016
SIX12Jun 28, 2021
SKI1Nov 15, 2017
SLC12A33Feb 1, 2019
SLC17A81Jun 28, 2021
SLC2A13Feb 1, 2019
SLC7A91Jun 21, 2016
SMAD31Jun 28, 2021
SMARCB11Jul 5, 2019
SMC1A2Jun 13, 2017
SMC32Jul 5, 2019
SOD11Jul 5, 2019
SOS11Jul 6, 2017
SPAST2Feb 14, 2017
SPATA51Jun 29, 2018
SPG72Nov 15, 2017
SPTBN21May 3, 2016
ST3GAL41Mar 18, 2016
STAT31Nov 15, 2017
STRC7Jul 5, 2021
STXBP12Nov 15, 2017
SYNGAP12Jun 13, 2017
SYNGAP1-AS12Jun 13, 2017
TBC1D243Jun 28, 2021
TCF43Jul 5, 2019
TJP22Mar 2, 2017
TMEM1271Mar 2, 2017
TMPRSS34Jul 5, 2021
TMPRSS61Feb 1, 2019
TNFRSF13B1Jul 6, 2017
TNFRSF1A1Mar 20, 2018
TNNT23Jun 29, 2018
TPM11Jun 21, 2016
TPM21May 19, 2017
TPM31May 19, 2017
TRIOBP1Jun 28, 2021
TSC11Feb 14, 2017
TSC24Jun 13, 2017
TTC191May 19, 2017
TTC21B2Jul 5, 2019
TTC21B-AS11Jul 5, 2019
TTN2Jun 13, 2017
TTN-AS11May 3, 2016
TYR3Jun 29, 2018
UMOD1Mar 2, 2017
USH1G1Jun 28, 2021
USH2A4Jul 5, 2021
VCL3Jul 5, 2019
VCP2Jun 29, 2018
VPS13B2May 3, 2016
WASHC52Nov 15, 2017
WDR451Mar 20, 2018
WFS13Jun 28, 2021
WNT12Feb 1, 2019
ZBTB181Mar 2, 2017
ZBTB201Jun 29, 2018

Condition

NameSubmissionsLast Updated
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder1Mar 2, 2017
AFib amyloidosis1Mar 20, 2018
Abnormal circulating lipid concentration1Mar 18, 2016
Abnormal facial shape1Jun 29, 2018
Adult hypophosphatasia1Feb 1, 2019
Adult polyglucosan body disease2May 19, 2017
Aganglionic megacolon3Jul 5, 2019
Alpha thalassemia-X-linked intellectual disability syndrome1Dec 8, 2016
Amyotrophic lateral sclerosis2Jul 5, 2019
Aneurysm-osteoarthritis syndrome1Jun 28, 2021
Aniridia 11Feb 1, 2019
Arrhythmogenic right ventricular cardiomyopathy1Feb 14, 2017
Arteriohepatic dysplasia1Mar 20, 2018
Arthrogryposis multiplex congenita3Mar 8, 2021
Asphyxiating thoracic dystrophy 32May 19, 2017
Ataxia-telangiectasia syndrome5May 19, 2017
Autism, susceptibility to, 181May 19, 2017
Autistic behavior3Jun 29, 2018
Autosomal dominant Alport syndrome1Jun 28, 2021
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome1Feb 1, 2019
Autosomal dominant nocturnal frontal lobe epilepsy 41Feb 1, 2019
Autosomal dominant nonsyndromic hearing loss 151Jun 28, 2021
Autosomal dominant nonsyndromic hearing loss 203Jul 5, 2021
Autosomal dominant nonsyndromic hearing loss 221Mar 2, 2017
Autosomal dominant nonsyndromic hearing loss 231Jun 28, 2021
Autosomal dominant nonsyndromic hearing loss 251Jun 28, 2021
Autosomal dominant nonsyndromic hearing loss 651Jun 28, 2021
Autosomal dominant nonsyndromic hearing loss 671Jun 28, 2021
Autosomal dominant nonsyndromic hearing loss 91Jun 28, 2021
Autosomal dominant optic atrophy classic form1Nov 15, 2017
Autosomal dominant pseudohypoaldosteronism type 11Jun 13, 2017
Autosomal recessive Alport syndrome2Mar 2, 2017
Autosomal recessive nonsyndromic hearing loss 123Jul 5, 2021
Autosomal recessive nonsyndromic hearing loss 166Jul 5, 2021
Autosomal recessive nonsyndromic hearing loss 1A3Jul 5, 2021
Autosomal recessive nonsyndromic hearing loss 21Mar 2, 2017
Autosomal recessive nonsyndromic hearing loss 221Jul 5, 2021
Autosomal recessive nonsyndromic hearing loss 232Jul 5, 2021
Autosomal recessive nonsyndromic hearing loss 281Jun 28, 2021
Autosomal recessive nonsyndromic hearing loss 31Jun 28, 2021
Autosomal recessive nonsyndromic hearing loss 421Jul 5, 2019
Autosomal recessive nonsyndromic hearing loss 491Jun 28, 2021
Autosomal recessive nonsyndromic hearing loss 532Jul 5, 2021
Autosomal recessive nonsyndromic hearing loss 771Jun 28, 2021
Autosomal recessive nonsyndromic hearing loss 84Jul 5, 2021
Autosomal recessive nonsyndromic hearing loss 862Feb 1, 2019
Autosomal recessive polycystic kidney disease2Feb 1, 2019
BAP1-related tumor predisposition syndrome1Nov 15, 2017
Behavioral abnormality1Jun 21, 2016
Benign familial hematuria1Feb 1, 2019
Benign hereditary chorea1Nov 15, 2017
Bernard Soulier syndrome1Mar 20, 2018
Bilateral ptosis1Jun 21, 2016
Bilateral sensorineural hearing impairment1Sep 13, 2016
Blepharophimosis - intellectual disability syndrome, SBBYS type1Jun 21, 2016
Branchiootic syndrome 11Jul 5, 2019
Branchiootic syndrome 31Jun 28, 2021
CARASIL syndrome1Feb 14, 2017
CFHR5 deficiency1May 3, 2016
CHARGE association2Mar 20, 2018
Capillary malformation-arteriovenous malformation 11Mar 20, 2018
Cardiac anomalies - developmental delay - facial dysmorphism syndrome1Jul 6, 2017
Cardiac arrhythmia, ankyrin-B-related1Jun 21, 2016
Cardiomyopathy1Mar 20, 2018
Catecholaminergic polymorphic ventricular tachycardia 11Dec 8, 2016
Central core myopathy1Feb 1, 2019
Cerebellar ataxia1Feb 14, 2017
Charcot-Marie-Tooth disease X-linked dominant 11Jul 5, 2019
Charcot-Marie-Tooth disease axonal type 2P1Jun 21, 2016
Charlevoix-Saguenay spastic ataxia1Mar 2, 2017
Childhood onset GLUT1 deficiency syndrome 21Jul 6, 2017
Cholestasis, progressive familial intrahepatic, 42Mar 2, 2017
Chorea1Feb 14, 2017
Clinodactyly of the 4th toe1Jun 29, 2018
Clinodactyly of the 5th finger1Jun 29, 2018
Cohen syndrome2May 3, 2016
Congenital contracture1Dec 8, 2016
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder1Jun 29, 2018
Congenital muscular hypertrophy-cerebral syndrome2Jun 13, 2017
Congenital myasthenic syndrome 81Feb 14, 2017
Congenital myopathy with fiber type disproportion1May 19, 2017
Continuous spike and waves during slow sleep1Nov 15, 2017
Cornelia de Lange syndrome 11Dec 8, 2016
Cronkhite-Canada syndrome1Sep 13, 2016
Cystinuria1Jun 21, 2016
DNA ligase IV deficiency2Dec 8, 2016
DYRK1A-related intellectual disability syndrome2Jun 13, 2017
De Lange syndrome3Jul 5, 2019
Deafness-infertility syndrome1Jun 28, 2021
Deeply set eye1Sep 13, 2016
Deficiency of guanidinoacetate methyltransferase2Jul 5, 2019
Delayed speech and language development1Jul 6, 2017
Developmental and epileptic encephalopathy, 191Mar 2, 2017
Developmental and epileptic encephalopathy, 22Jun 13, 2017
Developmental and epileptic encephalopathy, 271Dec 8, 2016
Developmental and epileptic encephalopathy, 42Nov 15, 2017
Developmental and epileptic encephalopathy, 73Jul 6, 2017
Dilated cardiomyopathy 1A1Feb 1, 2019
Dilated cardiomyopathy 1C1Feb 1, 2019
Dilated cardiomyopathy 1D2Jun 13, 2017
Dilated cardiomyopathy 1G2Jun 13, 2017
Dilated cardiomyopathy 1KK1Jun 29, 2018
Disproportionate tall stature1Nov 15, 2017
Early infantile epileptic encephalopathy with suppression bursts1Mar 20, 2018
Effort-induced polymorphic ventricular tachycardia1Jun 21, 2016
Ehlers-Danlos syndrome, classic type1Mar 18, 2016
Encephalopathy due to GLUT1 deficiency1Nov 15, 2017
Epilepsy1Mar 20, 2018
Epilepsy, familial focal, with variable foci 11Jul 5, 2019
Epileptic encephalopathy1Feb 14, 2017
Episodic ataxia type 21May 3, 2016
Exostoses, multiple, type 11Nov 15, 2017
Familial X-linked hypophosphatemic vitamin D refractory rickets2Jun 29, 2018
Familial amyloid nephropathy with urticaria AND deafness1Dec 8, 2016
Familial cancer of breast2Nov 15, 2017
Familial encephalopathy with neuroserpin inclusion bodies2May 19, 2017
Familial hypokalemia-hypomagnesemia3Feb 1, 2019
Familial isolated dilated cardiomyopathy2Jun 29, 2018
Familial isolated hyperparathyroidism1Jun 29, 2018
Familial juvenile hyperuricemic nephropathy type 11Mar 2, 2017
Familial temporal lobe epilepsy 51Jun 13, 2017
Familial thoracic aortic aneurysm and aortic dissection1Jan 12, 2021
Frontotemporal dementia and/or amyotrophic lateral sclerosis 61Feb 14, 2017
Functional motor deficit1Sep 13, 2016
GLUT1 deficiency syndrome1Feb 1, 2019
Generalized dystonia1Sep 13, 2016
Global developmental delay2Jun 13, 2017
Glomerulopathy1Mar 2, 2017
Gorlin syndrome1Feb 1, 2019
Granulomatous disease, chronic, X-linked1Nov 15, 2017
Grn-related frontotemporal lobar degeneration with Tdp43 inclusions2Jun 13, 2017
Hartsfield-Bixler-Demyer syndrome1Jun 29, 2018
Hearing loss, autosomal dominant 373Jul 5, 2021
Hearing loss, autosomal recessive1Mar 20, 2018
Hematuria1Mar 2, 2017
Hereditary episodic ataxia1Mar 18, 2016
Hereditary motor and sensory neuropathy with optic atrophy1May 19, 2017
Hereditary pancreatitis2Feb 1, 2019
Hereditary spastic paraplegia 42Feb 14, 2017
Hereditary spastic paraplegia 562Jul 6, 2017
Hereditary spastic paraplegia 72Nov 15, 2017
Hereditary spastic paraplegia 82Nov 15, 2017
Hyper-IgE recurrent infection syndrome 11Nov 15, 2017
Hyperinsulinemic hypoglycemia, familial, 22Jun 21, 2016
Hyperinsulinism-hyperammonemia syndrome1May 3, 2016
Hypertonia1Jul 6, 2017
Hypertrophic cardiomyopathy5Jul 5, 2019
Hypertrophic cardiomyopathy 11Nov 15, 2017
Hypertrophic cardiomyopathy 151Jun 13, 2017
Hypertrophic cardiomyopathy 413Feb 1, 2019
Hypertrophic cardiomyopathy 81Jun 29, 2018
Hypogonadotropic hypogonadism 2 with or without anosmia1Dec 8, 2016
Hypoparathyroidism, deafness, renal disease syndrome2Jun 28, 2021
Hypophosphatemic rickets, X-linked recessive1Jun 29, 2018
Imerslund-Grasbeck syndrome2Jul 5, 2019
Immunodeficiency 141Jun 13, 2017
Immunodeficiency, common variable, 21Jul 6, 2017
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 11Jun 29, 2018
Infantile muscular hypotonia1Jun 13, 2017
Infantile nephronophthisis2Jul 5, 2019
Intellectual disability4Jun 13, 2017
Intellectual disability syndrome due to a DYRK1A point mutation1Mar 20, 2018
Intellectual disability, X-linked 11Dec 8, 2016
Intellectual disability, autosomal dominant 221Mar 2, 2017
Intellectual disability, autosomal dominant 291Mar 18, 2016
Intellectual disability, autosomal dominant 41Mar 18, 2016
Intellectual disability, autosomal dominant 52Jun 13, 2017
Intellectual disability, autosomal dominant 81Mar 2, 2017
Intellectual disability, mild1Jul 5, 2019
Intellectual disability-severe speech delay-mild dysmorphism syndrome1Jul 6, 2017
Isolated anophthalmia-microphthalmia syndrome1Jun 29, 2018
Joubert syndrome 331Jul 12, 2021
Junctional epidermolysis bullosa, non-Herlitz type1Nov 15, 2017
KBG syndrome2Jun 13, 2017
Kabuki syndrome 14Jul 6, 2017
Kabuki syndrome 21Dec 8, 2016
Karyomegalic interstitial nephritis2May 19, 2017
LEOPARD syndrome 11May 3, 2016
Landau-Kleffner syndrome1Jun 29, 2018
Leber congenital amaurosis2Jun 29, 2018
Lethal congenital contracture syndrome 111Jun 29, 2018
Lissencephaly due to LIS1 mutation1Feb 14, 2017
Long QT syndrome 22Jul 5, 2019
Macrocephalus1Sep 13, 2016
Marfan syndrome5Jul 5, 2019
Marshall syndrome3Jul 5, 2021
Melanoma-pancreatic cancer syndrome1Feb 1, 2019
Microcephalic osteodysplastic primordial dwarfism type II1Jun 13, 2017
Microcephaly1Sep 13, 2016
Microcephaly 5, primary, autosomal recessive2Sep 13, 2016
Microcephaly 8, primary, autosomal recessive1Jul 6, 2017
Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome1Jun 29, 2018
Microcytic anemia1Feb 1, 2019
Migraine, familial hemiplegic, 13Jun 13, 2017
Mitochondrial complex III deficiency nuclear type 21May 19, 2017
Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency2Feb 14, 2017
Moderate global developmental delay3Jun 29, 2018
Multiple congenital anomalies-hypotonia-seizures syndrome 21Dec 8, 2016
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A61Nov 15, 2017
Mutism1Dec 8, 2016
Myoclonic dystonia 111Dec 8, 2016
Myofibrillar myopathy 11Feb 14, 2017
Nemaline myopathy 41May 19, 2017
Nemaline myopathy 92Jul 5, 2019
Neurodegeneration with brain iron accumulation 51Mar 20, 2018
Neurodevelopmental delay1Jun 21, 2016
Neurofibromatosis, type 110Jun 29, 2018
Neurofibromatosis, type 21Jun 28, 2021
Neurofibromatosis-Noonan syndrome1Jun 29, 2018
Neuronal ceroid lipofuscinosis 101Mar 18, 2016
Nicolaides-Baraitser syndrome1Feb 14, 2017
Nonprogressive cerebellar atxia with intellectual disability1Jun 21, 2016
Nonsyndromic genetic hearing loss1Mar 20, 2018
Noonan syndrome1Jun 29, 2018
Noonan syndrome 16Feb 1, 2019
Noonan syndrome 41Jul 6, 2017
Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy1Jun 28, 2021
Osteogenesis imperfecta2Feb 1, 2019
Palmoplantar keratoderma-deafness syndrome1Jun 28, 2021
Paroxysmal extreme pain disorder1Jun 13, 2017
Pelizaeus-Merzbacher disease1Mar 2, 2017
Peroxisome biogenesis disorder 1A (Zellweger)2Jul 5, 2019
Perrault syndrome2Jul 5, 2019
Pettigrew syndrome1Feb 14, 2017
Pheochromocytoma1Mar 2, 2017
Pitt-Hopkins syndrome3Jul 5, 2019
Pituitary adenoma 5, multiple types1Jul 5, 2021
Polycystic kidney disease 21Mar 2, 2017
Presynaptic congenital myasthenic syndrome1Jun 29, 2018
Primary ciliary dyskinesia2Mar 20, 2018
Primary ciliary dyskinesia 21Nov 15, 2017
Primary dilated cardiomyopathy4Mar 20, 2018
Profound global developmental delay1Feb 14, 2017
Prolonged QT interval1Mar 2, 2017
Psychotic disorder1Dec 8, 2016
Pyruvate dehydrogenase E1-alpha deficiency1Jul 6, 2017
Renal hypoplasia1Jun 21, 2016
Retinitis pigmentosa 392Jul 5, 2021
Rett syndrome1Mar 2, 2017
Rhabdoid tumor predisposition syndrome 11Jul 5, 2019
Rubinstein-Taybi syndrome due to CREBBP mutations2Jun 29, 2018
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency1Mar 2, 2017
Seizure6Jul 5, 2019
Seizures, benign familial infantile, 31Jul 5, 2019
Seizures, benign familial neonatal, 11May 3, 2016
Severe early-childhood-onset retinal dystrophy1Jul 6, 2017
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome1Sep 13, 2016
Severe intellectual disability-progressive spastic diplegia syndrome1Jun 21, 2016
Severe myoclonic epilepsy in infancy1Sep 13, 2016
Severe postnatal growth retardation1Mar 20, 2018
Smith-Lemli-Opitz syndrome2Mar 2, 2017
Specific learning disability1Sep 13, 2016
Spinocerebellar ataxia type 51May 3, 2016
Spondyloepiphyseal dysplasia congenita1Feb 1, 2019
Stickler syndrome type 23Jul 5, 2021
Storage pool disease of platelets1Jun 29, 2018
Syndromic X-linked intellectual disability Claes-Jensen type1Dec 8, 2016
Syndromic X-linked intellectual disability Najm type1Jun 13, 2017
Synostosis involving bones of the lower limbs1Mar 20, 2018
TNF receptor-associated periodic fever syndrome (TRAPS)1Mar 20, 2018
Telangiectasia, hereditary hemorrhagic, type 12Jul 6, 2017
Telangiectasia, hereditary hemorrhagic, type 23Jul 5, 2019
Thrombocytopenia 21Jul 5, 2019
Tuberous sclerosis 11Feb 14, 2017
Tuberous sclerosis 24Jun 13, 2017
Tyrosinase-negative oculocutaneous albinism3Jun 29, 2018
Usher syndrome type 1D1Jul 5, 2021
Usher syndrome type 1G1Jun 28, 2021
Usher syndrome type 22Jul 5, 2019
Usher syndrome type 2A4Jul 5, 2021
Vertigo1Mar 18, 2016
Wolfram-like syndrome1Jun 28, 2021
X-linked Alport syndrome5Jun 28, 2021
X-linked hydrocephalus syndrome1May 3, 2016
X-linked intellectual disability Cabezas type2Feb 1, 2019
X-linked intellectual disability, Cantagrel type1Mar 2, 2017
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