Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues, CHGLD

General information

Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues, CHGLD

Lochhamer Strasse 29
Martinsried
Bayern
Germany - 82152
http://medizinische-genetik.de/index.php?id=15866
Organization ID: 505944

Personnel

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 692

Gene

GeneSubmissionsLast Updated
ABCA35Dec 30, 2021
ACTB2Jan 22, 2018
ACTN21Sep 28, 2018
ACVRL14Dec 30, 2021
ADGRV13Sep 28, 2018
ADNP1Nov 17, 2016
AGTR12Dec 30, 2021
AGXT1Dec 30, 2021
AHDC11Jul 3, 2019
AKAP92Jul 3, 2019
ANK21Jul 2, 2018
ANKRD112Oct 1, 2021
APC1Oct 1, 2021
ARHGAP241Dec 30, 2021
ARHGEF101Oct 8, 2019
ARID1B2Jul 1, 2020
ARX1Oct 1, 2021
ASPM1Jan 5, 2021
ASXL31Sep 28, 2018
ATP1A21Dec 19, 2018
ATP7A1Dec 30, 2021
ATRX1Jul 2, 2018
AUTS21Dec 30, 2021
AVPR21Nov 17, 2016
B9D21Oct 8, 2019
BAG32Oct 8, 2019
BBS11Apr 17, 2020
BICC11Apr 1, 2021
BMPR21Dec 30, 2021
BRAT11Sep 28, 2018
C10orf1051Jul 2, 2018
CACNA1A8Apr 1, 2021
CACNA1C20Oct 1, 2020
CACNA1C-AS17Mar 6, 2020
CACNA1G2Oct 8, 2019
CACNA1H1Oct 6, 2017
CACNA1S1Jul 3, 2019
CACNA2D12Jul 3, 2019
CACNB21Apr 17, 2020
CALM21Jul 3, 2017
CASK1Dec 30, 2021
CASQ11Dec 30, 2021
CASQ23Apr 10, 2017
CAV32Mar 6, 2020
CC2D2A1Apr 4, 2019
CDH232Jul 2, 2018
CDK5RAP21Oct 6, 2017
CEP2902Apr 17, 2020
CFTR3Apr 4, 2019
CHD22Apr 1, 2021
CHD72Sep 28, 2018
CHD84Dec 30, 2021
CHM2Dec 30, 2021
CLCN12Oct 1, 2021
CLCN21Sep 28, 2018
COL11A11Jan 22, 2018
COL11A23Jul 1, 2020
COL1A14Jan 22, 2018
COL1A22Apr 4, 2019
COL2A11Jan 22, 2018
COL4A311Dec 30, 2021
COL4A42Oct 1, 2021
COL4A55Mar 6, 2020
CREBBP4Dec 30, 2021
CRPPA1Apr 6, 2018
CSF2RA1Apr 1, 2021
CSF2RB2Apr 1, 2021
CTNNB13Oct 1, 2020
DDOST1Apr 4, 2019
DDX3X3Dec 30, 2021
DEAF11Apr 10, 2017
DEPDC52Sep 28, 2018
DIAPH31Oct 8, 2019
DIAPH3-AS11Oct 8, 2019
DIP2B1Dec 30, 2021
DNAH112Apr 1, 2021
DNM11Apr 6, 2018
DNMT3A2Dec 30, 2021
DSP1Oct 6, 2017
DSTYK1Oct 1, 2021
DYNC1H12Dec 30, 2021
DYNC2H12Jul 3, 2019
DYNC2I21Mar 6, 2020
DYRK1A1Jul 3, 2019
EBF31Jul 2, 2018
EED1Oct 1, 2020
EHMT13Oct 1, 2021
ENG1Dec 30, 2021
EP3002Jan 5, 2021
EYS1Jul 3, 2019
F71Dec 30, 2021
F82Dec 30, 2021
FGD11Mar 6, 2020
FLCN1Jul 8, 2021
FOXF11Jul 2, 2018
FOXG11Oct 1, 2020
FOXH11Jul 3, 2019
FOXP12Oct 8, 2019
FTSJ11Apr 10, 2017
FZR11Dec 30, 2021
GARS11Oct 8, 2019
GATAD2B2Apr 4, 2019
GDF21Apr 1, 2021
GJA11Dec 30, 2021
GJB11Oct 8, 2019
GJB21Apr 6, 2018
GLI31Apr 17, 2020
GPD1L1Jul 2, 2018
GRIK21Apr 4, 2019
GRIN11Oct 1, 2021
GRIN2A1Dec 19, 2018
GRIN2B4Jul 8, 2021
HBA-LCR2Oct 1, 2020
HCFC11Dec 30, 2021
HCN43Jul 3, 2019
HDAC82Mar 6, 2020
HERC11Dec 30, 2021
HERC22Dec 30, 2021
HIVEP21Dec 30, 2021
HUWE11Dec 30, 2021
IFT1401Oct 1, 2021
IQSEC22Oct 1, 2020
JAG11Apr 10, 2017
KAT6A1Sep 28, 2018
KCNA11Apr 10, 2017
KCND31Jul 2, 2018
KCNE13Jul 3, 2019
KCNE23Jul 3, 2019
KCNE32Apr 17, 2020
KCNH11Jul 2, 2018
KCNH246Oct 1, 2020
KCNJ181Jul 3, 2017
KCNJ29Oct 1, 2020
KCNJ52Mar 6, 2020
KCNJ81Apr 10, 2017
KCNQ149Oct 1, 2020
KCNQ1-AS11Jul 2, 2018
KCNQ24Apr 1, 2021
KCNQ41Oct 1, 2020
KCNQ51Oct 1, 2020
KDM5C1Jan 22, 2018
KDM6A1Oct 1, 2020
KIF1A3Oct 1, 2020
KIFC21Jul 3, 2019
KMT2A2Dec 30, 2021
KMT2D1Sep 28, 2018
LAMA21Apr 6, 2018
LDB31Apr 10, 2017
LMNA2Jan 22, 2018
LOC1027240582Jan 5, 2021
LOC1101212692Apr 4, 2019
LOC1211753501Jul 3, 2019
LOXHD11Jul 3, 2017
LZTR13Jul 3, 2017
MBD51Jul 2, 2018
MEA11Jul 8, 2021
MECP22Jul 1, 2020
MED121Apr 1, 2021
MED131Sep 28, 2018
MED13L3Dec 30, 2021
MEF2C1Jul 8, 2021
MEN11Jul 8, 2021
MERTK2Dec 30, 2021
MFF-DT11Dec 30, 2021
MITF1Dec 30, 2021
MLH11Jul 8, 2021
MME1Oct 8, 2019
MRAS1Jul 2, 2018
MYBPC33Apr 4, 2019
MYH32Dec 30, 2021
MYH62Jul 3, 2019
MYH72Jul 2, 2018
MYL21Dec 22, 2016
MYO15A2Jul 8, 2021
MYO161Dec 19, 2018
MYO61Jan 5, 2021
NAA151Dec 30, 2021
NALCN1Apr 6, 2018
NIPBL1Oct 6, 2017
NKX2-11Apr 4, 2019
NLGN4X1Dec 30, 2021
NOTCH21Oct 8, 2019
NOTCH31Apr 17, 2020
NPRL21Dec 19, 2018
NPRL32Oct 1, 2020
NR2E31Dec 30, 2021
NR4A21Dec 30, 2021
NRXN13Apr 4, 2019
NSD13Apr 4, 2019
NTHL11Jul 8, 2021
OFD12Oct 1, 2021
OSBPL21Apr 1, 2021
OTOA1Oct 8, 2019
OTOG2Oct 1, 2021
PBX11Sep 28, 2018
PCDH193Jul 3, 2019
PDE2A1Dec 30, 2021
PDZD71Jul 2, 2018
PIGG1Sep 28, 2018
PIK3R21Dec 19, 2018
PKD141Dec 30, 2021
PKD1-AS15Dec 30, 2021
PKD24Apr 17, 2020
PKHD13Apr 1, 2021
PMPCA1Oct 1, 2021
PMS21Jul 8, 2021
PORCN1Oct 1, 2021
POU3F41Jul 2, 2018
PPM1D1Dec 19, 2018
PPP2R5D1Jul 8, 2021
PQBP11Apr 4, 2019
PRKCSH1Apr 1, 2021
PROC9Dec 30, 2021
PROS18Dec 30, 2021
PSEN11Jul 3, 2019
PTCHD11Apr 10, 2017
PTEN1Jul 2, 2018
PUF601Apr 6, 2018
PURA1Jul 2, 2018
RAI11Dec 30, 2021
RBM202Apr 6, 2018
RELN1Jul 2, 2018
RSPH4A1Dec 30, 2021
RYR11Oct 6, 2017
RYR229Oct 1, 2020
SCN10A3Sep 28, 2018
SCN1A3Jan 5, 2021
SCN2A4Oct 1, 2020
SCN4A1Jan 22, 2018
SCN4B3Jul 3, 2019
SCN5A50Oct 1, 2020
SCN8A4Apr 1, 2021
SEC631Apr 1, 2021
SERPINC13Dec 30, 2021
SETBP11Dec 30, 2021
SETD52Oct 8, 2019
SFTA31Apr 4, 2019
SFTPC1Apr 17, 2020
SHANK22Dec 30, 2021
SHROOM41Dec 30, 2021
SLC12A33Dec 30, 2021
SLC1A21Oct 1, 2020
SLC2A11Sep 28, 2018
SLC35A21Jan 5, 2021
SLC4A11Apr 6, 2018
SLC6A11Apr 4, 2019
SLC6A1-AS11Apr 4, 2019
SMAD91Dec 30, 2021
SMARCC21Oct 1, 2020
SNHG141Jul 3, 2019
SNTA14Jul 2, 2018
SOS22Jan 22, 2018
SOX51Oct 1, 2020
SPTAN12Apr 4, 2019
SSUH21Apr 4, 2019
STAG11Jan 5, 2021
STRC3Jul 1, 2020
SYN11Oct 8, 2019
SYNE11Jan 22, 2018
SYNGAP11Mar 6, 2020
TAFAZZIN1Dec 22, 2016
TBCEL-TECTA1Oct 8, 2019
TBL1XR11Dec 30, 2021
TBX41Nov 17, 2016
TCF121Jul 3, 2019
TCF42Dec 19, 2018
TECTA1Oct 8, 2019
TMEM671Apr 17, 2020
TMPRSS31Jul 1, 2020
TRIO2Dec 30, 2021
TRPC61Apr 17, 2020
TRPM43Jul 3, 2019
TTN12Oct 1, 2021
TTN-AS19Oct 1, 2021
TUBB2A1Oct 1, 2020
UBE3A1Jul 3, 2019
USH2A3Oct 1, 2020
USH2A-AS21Oct 1, 2020
VWF3Dec 30, 2021
WDR451Oct 1, 2021
WNK11Jul 3, 2017
ZBTB181Jan 5, 2021
ZDHHC241Apr 17, 2020
ZEB23Jul 1, 2020
ZIC31Nov 17, 2016
ZMYND111Dec 30, 2021
ZNF7111Dec 30, 2021

Condition

NameSubmissionsLast Updated
Aarskog syndrome1Mar 6, 2020
Alagille syndrome 11Apr 10, 2017
Alagille syndrome 21Oct 8, 2019
Alpha thalassemia-X-linked intellectual disability syndrome1Jul 2, 2018
Alport syndrome1Apr 10, 2017
Alport syndrome 1, X-linked recessive5Mar 6, 2020
Alport syndrome 3, autosomal dominant5Dec 30, 2021
Alport syndrome, autosomal recessive3Apr 17, 2020
Alveolar capillary dysplasia with pulmonary venous misalignment1Jul 2, 2018
Alzheimer disease, type 31Jul 3, 2019
Andersen Tawil syndrome9Oct 1, 2020
Angelman syndrome1Jul 3, 2019
Antithrombin III deficiency3Dec 30, 2021
Arboleda-Tham syndrome1Sep 28, 2018
Arrhythmogenic right ventricular dysplasia 81Oct 6, 2017
Arthrogryposis, distal, type 2B31Dec 30, 2021
Atrial septal defect 31Jul 3, 2019
Autism 172Dec 30, 2021
Autism, susceptibility to, 183Dec 30, 2021
Autism, susceptibility to, X-linked 21Dec 30, 2021
Autism, susceptibility to, X-linked 41Apr 10, 2017
Autistic disorder5Dec 30, 2021
Autosomal dominant nonsyndromic hearing loss 2A1Oct 1, 2020
Autosomal recessive polycystic kidney disease2Oct 8, 2019
Bainbridge-Ropers syndrome1Sep 28, 2018
Baraitser-Winter syndrome 12Jan 22, 2018
Bardet-Biedl syndrome 11Apr 17, 2020
Benign familial hematuria4Oct 1, 2021
Benign familial neonatal seizures 11Jan 22, 2018
Brugada syndrome6Jul 3, 2019
Brugada syndrome 126Oct 1, 2020
Brugada syndrome 21Jul 2, 2018
Brugada syndrome 31Jul 2, 2018
Brugada syndrome 41Apr 17, 2020
Brugada syndrome 83Jul 3, 2019
Brugada syndrome 91Jul 2, 2018
CDK8-kinase module-associated disorder1Sep 28, 2018
CHARGE association2Sep 28, 2018
Cardiac arrhythmia, ankyrin B-related1Jul 2, 2018
Catecholaminergic polymorphic ventricular tachycardia type 129Oct 1, 2020
Caused by mutation in the tafazzin gene1Dec 22, 2016
Central core myopathy1Oct 6, 2017
Cerebellar ataxia7Dec 30, 2021
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy type 11Apr 17, 2020
Charcot-Marie-Tooth disease type 2D1Oct 8, 2019
Charcot-Marie-Tooth disease, axonal, type 2T1Oct 8, 2019
Choreoathetosis, hypothyroidism, and neonatal respiratory distress1Apr 4, 2019
Choroideremia2Dec 30, 2021
Ciliary dyskinesia, primary, 111Dec 30, 2021
Ciliary dyskinesia, primary, 72Apr 1, 2021
Coffin-Siris syndrome 12Jul 1, 2020
Coffin-Siris syndrome 81Oct 1, 2020
Cognitive impairment with or without cerebellar ataxia2Jan 5, 2021
Cohen-Gibson syndrome1Oct 1, 2020
Complex neurodevelopmental disorder1Dec 30, 2021
Congenital anomalies of kidney and urinary tract 1, susceptibility to1Oct 1, 2021
Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay1Sep 28, 2018
Congenital bilateral aplasia of vas deferens from CFTR mutation1Apr 10, 2017
Congenital contractures of the limbs and face, hypotonia, and developmental delay1Apr 6, 2018
Congenital factor VII deficiency1Dec 30, 2021
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A71Apr 6, 2018
Congenital myotonia, autosomal dominant form1Oct 8, 2019
Congenital myotonia, autosomal recessive form1Oct 1, 2021
Cornelia de Lange syndrome 11Oct 6, 2017
Cornelia de Lange syndrome 52Mar 6, 2020
Cortical dysplasia, complex, with other brain malformations 51Oct 1, 2020
Craniosynostosis 31Jul 3, 2019
Cystic fibrosis2Apr 4, 2019
Deafness1Jul 3, 2017
Deafness, X-linked 21Jul 2, 2018
Deafness, autosomal dominant 132Jul 1, 2020
Deafness, autosomal dominant 3a1Apr 6, 2018
Deafness, autosomal dominant 671Apr 1, 2021
Deafness, autosomal recessive 122Jul 2, 2018
Deafness, autosomal recessive 162Jul 1, 2020
Deafness, autosomal recessive 18b1Oct 1, 2020
Deafness, autosomal recessive 32Jul 8, 2021
Deafness, autosomal recessive 531Jul 1, 2020
Deafness, autosomal recessive 81Jul 1, 2020
Developmental and epileptic encephalopathy 942Apr 1, 2021
Developmental and epileptic encephalopathy, 422Apr 4, 2019
Developmental delay with autism spectrum disorder and gait instability2Dec 30, 2021
Dilated cardiomyopathy 1A2Jan 22, 2018
Dilated cardiomyopathy 1AA1Sep 28, 2018
Dilated cardiomyopathy 1DD2Apr 6, 2018
Dilated cardiomyopathy 1G12Oct 1, 2021
Dilated cardiomyopathy 1HH2Oct 8, 2019
Distal arthrogryposis1Jan 5, 2021
Early infantile epileptic encephalopathy 114Oct 1, 2020
Early infantile epileptic encephalopathy 132Apr 1, 2021
Early infantile epileptic encephalopathy 52Apr 4, 2019
Early infantile epileptic encephalopathy 73Apr 1, 2021
Early infantile epileptic encephalopathy 93Jul 3, 2019
Epilepsy, X-linked, with variable learning disabilities and behavior disorders1Oct 8, 2019
Epilepsy, childhood absence 61Oct 6, 2017
Epilepsy, familial focal, with variable foci 12Sep 28, 2018
Epilepsy, familial focal, with variable foci 21Dec 19, 2018
Epilepsy, familial focal, with variable foci 32Oct 1, 2020
Epilepsy, familial temporal lobe, 71Jul 2, 2018
Epilepsy, focal, with speech disorder and with or without mental retardation1Dec 19, 2018
Epilepsy, idiopathic generalized, susceptibility to, 111Sep 28, 2018
Epileptic encephalopathy, early infantile, 272Jul 8, 2021
Epileptic encephalopathy, early infantile, 311Apr 6, 2018
Epileptic encephalopathy, early infantile, 411Oct 1, 2020
Episodic ataxia type 11Apr 10, 2017
Episodic ataxia type 24Jul 1, 2020
FG syndrome 41Dec 30, 2021
Familial adenomatous polyposis 11Oct 1, 2021
Familial adenomatous polyposis 31Jul 8, 2021
Familial hemiplegic migraine type 21Dec 19, 2018
Familial hypertrophic cardiomyopathy 12Jul 2, 2018
Familial hypertrophic cardiomyopathy 101Dec 22, 2016
Familial hypertrophic cardiomyopathy 142Jan 22, 2018
Familial hypertrophic cardiomyopathy 43Apr 4, 2019
Familial hypokalemia-hypomagnesemia3Dec 30, 2021
Febrile seizures, familial, 43Sep 28, 2018
Focal dermal hypoplasia1Oct 1, 2021
Focal segmental glomerulosclerosis1Dec 30, 2021
Focal segmental glomerulosclerosis 21Apr 17, 2020
GLUT1 deficiency syndrome 11Sep 28, 2018
Generalized epilepsy with febrile seizures plus, type 21Dec 19, 2018
Global developmental delay1Dec 30, 2021
Greig cephalopolysyndactyly syndrome1Apr 17, 2020
Hearing impairment8Dec 30, 2021
Helsmoortel-Van der Aa Syndrome1Nov 17, 2016
Hereditary factor VIII deficiency disease2Dec 30, 2021
Hereditary hemorrhagic telangiectasia type 11Dec 30, 2021
Hereditary nonpolyposis colorectal cancer type 41Jul 8, 2021
Hereditary sensory and autonomic neuropathy type IIA1Jul 3, 2017
Heterotaxy, visceral, 1, X-linked1Nov 17, 2016
Hypokalemic periodic paralysis 11Jul 3, 2019
Hypotonia1Dec 30, 2021
Hypotonia, ataxia, and delayed development syndrome1Jul 2, 2018
Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold1Dec 19, 2018
Intellectual developmental disorder with paroxysmal dyskinesia or seizures1Dec 30, 2021
Intellectual disability6Apr 1, 2021
Intellectual disability, X-linked syndromic, Turner type1Dec 30, 2021
Intellectual disability, autosomal dominant 461Oct 1, 2020
Intellectual disability, autosomal dominant 471Jan 5, 2021
Intellectual disability, autosomal dominant 92Jul 3, 2019
Joubert syndrome 101Oct 1, 2021
Joubert syndrome 51Jul 3, 2017
Joubert syndrome 91Apr 4, 2019
KBG syndrome2Oct 1, 2021
KCNH1-related phenotype1Jul 2, 2018
Kabuki syndrome 11Sep 28, 2018
Kabuki syndrome 21Oct 1, 2020
Kleefstra syndrome 12Oct 1, 2021
Lamb-shaffer syndrome1Oct 1, 2020
Long QT syndrome1Dec 22, 2016
Long QT syndrome 148Oct 1, 2020
Long QT syndrome 103Jul 3, 2019
Long QT syndrome 112Jul 3, 2019
Long QT syndrome 124Jul 2, 2018
Long QT syndrome 132Mar 6, 2020
Long QT syndrome 151Jul 3, 2017
Long QT syndrome 246Oct 1, 2020
Long QT syndrome 325Oct 1, 2020
Long QT syndrome 53Jul 3, 2019
Long QT syndrome 63Jul 3, 2019
Long QT syndrome 81Oct 1, 2020
Long QT syndrome 92Mar 6, 2020
Lynch syndrome II1Jul 8, 2021
MYO16-associated developmental delay1Dec 19, 2018
Macrocephaly, dysmorphic facies, and psychomotor retardation1Dec 30, 2021
Macrocephaly/autism syndrome1Jul 2, 2018
Marshall syndrome1Jan 22, 2018
Meckel syndrome, type 101Oct 8, 2019
Meckel syndrome, type 31Apr 17, 2020
Meckel syndrome, type 41Apr 17, 2020
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 11Dec 19, 2018
Menkes kinky-hair syndrome1Dec 30, 2021
Mental retardation 3, X-linked1Dec 30, 2021
Mental retardation 9, X-linked1Apr 10, 2017
Mental retardation and distinctive facial features with or without cardiac defects3Dec 30, 2021
Mental retardation with language impairment and with or without autistic features2Oct 8, 2019
Mental retardation, X-linked 11Oct 1, 2020
Mental retardation, X-linked 1023Dec 30, 2021
Mental retardation, autosomal dominant 11Jul 2, 2018
Mental retardation, autosomal dominant 132Dec 30, 2021
Mental retardation, autosomal dominant 182Apr 4, 2019
Mental retardation, autosomal dominant 193Oct 1, 2020
Mental retardation, autosomal dominant 221Jan 5, 2021
Mental retardation, autosomal dominant 232Oct 8, 2019
Mental retardation, autosomal dominant 241Apr 10, 2017
Mental retardation, autosomal dominant 261Dec 30, 2021
Mental retardation, autosomal dominant 291Dec 30, 2021
Mental retardation, autosomal dominant 301Dec 30, 2021
Mental retardation, autosomal dominant 311Jul 2, 2018
Mental retardation, autosomal dominant 351Jul 8, 2021
Mental retardation, autosomal dominant 411Dec 30, 2021
Mental retardation, autosomal dominant 431Dec 30, 2021
Mental retardation, autosomal dominant 442Dec 30, 2021
Mental retardation, autosomal dominant 51Mar 6, 2020
Mental retardation, autosomal dominant 63Jul 8, 2021
Mental retardation, autosomal dominant 71Jul 3, 2019
Mental retardation, autosomal recessive 531Sep 28, 2018
Mental retardation, fra12a type1Dec 30, 2021
Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations1Jul 8, 2021
Mental retardation, syndromic, Claes-Jensen type, X-linked1Jan 22, 2018
Merosin deficient congenital muscular dystrophy1Apr 6, 2018
Microcephaly1Apr 4, 2019
Mowat-Wilson syndrome3Jul 1, 2020
Multiple endocrine neoplasia, type 11Jul 8, 2021
Multiple fibrofolliculomas1Jul 8, 2021
Myoclonic-atonic epilepsy1Apr 4, 2019
Myopathy, vacuolar, with casq1 aggregates1Dec 30, 2021
Nephrogenic diabetes insipidus, X-linked1Nov 17, 2016
Neurodegeneration with brain iron accumulation 51Oct 1, 2021
Noonan syndrome 102Jul 3, 2017
Noonan syndrome 92Jan 22, 2018
Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia1Jul 3, 2019
Oculodentodigital dysplasia1Dec 30, 2021
Orofaciodigital syndrome I1Apr 6, 2018
Osteogenesis imperfecta type I2Apr 10, 2017
Osteogenesis imperfecta type III3Apr 4, 2019
Osteogenesis imperfecta, recessive perinatal lethal1Jan 22, 2018
Paramyotonia congenita of von Eulenburg1Jan 22, 2018
Pitt-Hopkins syndrome2Dec 19, 2018
Pitt-Hopkins-like syndrome 22Apr 6, 2018
Polycystic kidney disease 24Apr 17, 2020
Polycystic kidney disease 41Apr 1, 2021
Polycystic kidney disease, adult type41Dec 30, 2021
Polycystic liver disease 11Apr 1, 2021
Polycystic liver disease 21Apr 1, 2021
Primary autosomal recessive microcephaly 31Oct 6, 2017
Primary autosomal recessive microcephaly 51Jan 5, 2021
Primary hyperoxaluria, type I1Dec 30, 2021
Primary pulmonary hypertension 12Dec 30, 2021
Primary pulmonary hypertension 21Dec 30, 2021
Prolonged QT interval2Apr 17, 2020
Rasopathy2Jul 2, 2018
Renal dysplasia, cystic, susceptibility to1Apr 1, 2021
Renal tubular dysgenesis of genetic origin2Dec 30, 2021
Retinitis pigmentosa 251Jul 3, 2019
Retinitis pigmentosa 371Dec 30, 2021
Retinitis pigmentosa 382Dec 30, 2021
Rett syndrome2Jul 1, 2020
Rett syndrome, congenital variant1Oct 1, 2020
Rigidity and multifocal seizure syndrome, lethal neonatal1Sep 28, 2018
Rubinstein-Taybi syndrome 14Dec 30, 2021
Rubinstein-Taybi syndrome 22Jan 5, 2021
SLC35A2-CDG1Jan 5, 2021
Saldino-Mainzer syndrome1Oct 1, 2021
Seizures1Dec 30, 2021
Severe myoclonic epilepsy in infancy2Jan 5, 2021
Short QT syndrome 21Sep 28, 2018
Short-rib thoracic dysplasia 11 with or without polydactyly1Mar 6, 2020
Short-rib thoracic dysplasia 3 with or without polydactyly2Jul 3, 2019
Simpson-Golabi-Behmel syndrome, type 21Oct 1, 2021
Slowed nerve conduction velocity, autosomal dominant1Oct 8, 2019
Smith-Magenis syndrome1Dec 30, 2021
Sotos syndrome 13Apr 4, 2019
Spastic paraplegia 30, autosomal recessive1Oct 1, 2020
Spherocytosis type 21Apr 6, 2018
Spherocytosis type 41Apr 6, 2018
Spinocerebellar ataxia, autosomal recessive 81Jan 22, 2018
Stickler syndrome type 11Jan 22, 2018
Stocco dos Santos syndrome1Dec 30, 2021
Surfactant metabolism dysfunction, pulmonary, 11Apr 17, 2020
Surfactant metabolism dysfunction, pulmonary, 35Dec 30, 2021
Surfactant metabolism dysfunction, pulmonary, 41Apr 1, 2021
Surfactant metabolism dysfunction, pulmonary, 52Apr 1, 2021
Tatton-Brown-rahman syndrome2Dec 30, 2021
Telangiectasia, hereditary hemorrhagic, type 24Dec 30, 2021
Telangiectasia, hereditary hemorrhagic, type 51Apr 1, 2021
Thrombophilia due to protein S deficiency, autosomal dominant8Dec 30, 2021
Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant9Dec 30, 2021
Thyrotoxic periodic paralysis 21Jul 3, 2017
Timothy syndrome17Mar 6, 2020
Usher syndrome, type 2A4Oct 1, 2020
Ventricular tachycardia, catecholaminergic polymorphic, 23Apr 10, 2017
Verheij syndrome1Apr 6, 2018
Wiedemann-Steiner syndrome2Dec 30, 2021
Xia-Gibbs syndrome1Jul 3, 2019
ZNF711-Related X-linked Mental Retardation1Dec 30, 2021
short QT syndrome2Jul 3, 2019
von Willebrand disease type 11Oct 1, 2021
von Willebrand disease type 22Dec 30, 2021
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