SIB Swiss Institute of Bioinformatics, SIB

General information

SIB Swiss Institute of Bioinformatics, SIB

1, rue Michel Servet
Geneva
Switzerland - 1211
http://www.sib.swiss/
Organization ID: 506146

Personnel

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 861

Gene

GeneSubmissionsLast Updated
AAAS1Jun 13, 2018
ABCB41Jun 13, 2018
ABCD11Jun 13, 2018
ABCG82Jun 13, 2018
ACAD91Jun 13, 2018
ACADVL1Jun 13, 2018
ACAT11Oct 17, 2018
ACTA12Jun 11, 2020
ACTL6B13Aug 12, 2019
ACTN23Jul 27, 2020
ADPRS1Jan 21, 2019
AEBP11Oct 17, 2018
AGRN1Oct 17, 2018
AGXT1Jun 13, 2018
AHI12Jun 13, 2018
AK71Oct 17, 2018
ALDH18A11Jun 13, 2018
ALDOB1Jun 13, 2018
ALG81Jun 13, 2018
ALOX12B1Jun 13, 2018
ALPL1Jun 13, 2018
AMACR1Jun 13, 2018
ANK11Jun 13, 2018
ANO54Jun 13, 2018
AP2M11Dec 18, 2019
AP3B11Jun 13, 2018
APC2Oct 17, 2018
ARID22Oct 17, 2018
ARL31Jan 21, 2019
ARSA1Oct 17, 2018
ARSB4Jun 13, 2018
ASAH11Apr 18, 2018
ASL1Jun 13, 2018
ASPA1Jun 13, 2018
ASPM2Oct 17, 2018
ASS11Jun 13, 2018
ATAD12Oct 17, 2018
ATL11Jun 13, 2018
ATM2Jun 13, 2018
ATP11C1Oct 17, 2018
ATP1A31Jun 13, 2018
ATP6V0A21Jun 13, 2018
ATP7B8Apr 27, 2020
BBS121Jun 13, 2018
BCKDHA3Jun 13, 2018
BEST11Jun 13, 2018
BIN14Mar 27, 2019
BMP23Oct 17, 2018
BRAF1Jun 13, 2018
BSCL21Jun 13, 2018
BSND1Jun 13, 2018
C11orf801Oct 17, 2019
C12orf42Feb 19, 2020
C19orf122Jun 13, 2018
C1QTNF3-AMACR1Jun 13, 2018
C1orf1053Oct 17, 2018
CACNA1A2Oct 17, 2018
CACNA1S2Jun 13, 2018
CALM16Jul 27, 2020
CAPN32Jun 13, 2018
CARMIL24Mar 27, 2019
CAV31Jun 13, 2018
CBS3Jun 13, 2018
CCDC1031Jun 13, 2018
CCDC391Jun 13, 2018
CCN63Mar 27, 2019
CCNH1Jun 13, 2018
CDC14A7Mar 27, 2019
CDC459Oct 17, 2018
CDIN16Aug 12, 2019
CDKL52Jun 13, 2018
CEP2506Feb 19, 2020
CEP250-AS11Feb 19, 2020
CEP2901Jun 13, 2018
CFL21Apr 18, 2018
CFTR2Jun 13, 2018
CHD320Mar 27, 2019
CHD73Jun 13, 2018
CIB21Oct 17, 2018
CLN52Oct 17, 2018
CLN61Jun 13, 2018
CLN81Jun 13, 2018
CLPB1Oct 17, 2018
CLPX1Oct 17, 2018
CNNM21Apr 18, 2018
COG41Aug 12, 2019
COL3A14Aug 12, 2019
COL4A33Oct 17, 2018
COL5A11Jun 13, 2018
COL7A12Jun 13, 2018
CPLANE11Jun 13, 2018
CPLX13Oct 17, 2018
CUL71Oct 17, 2018
CUX21Mar 27, 2019
CYB5A2Oct 17, 2018
CYFIP23Oct 17, 2018
DEGS110Oct 17, 2019
DENND5A1Apr 18, 2018
DES1Apr 18, 2018
DHPS2Dec 18, 2019
DHTKD11Apr 18, 2018
DHX382Jan 21, 2019
DMD1Jun 13, 2018
DNAH173Feb 19, 2020
DNAH17-AS11Feb 19, 2020
DNAJB113Oct 17, 2018
DNMBP1Sep 24, 2019
DNMBP-AS11Sep 24, 2019
DSP1Jun 13, 2018
DYNC1H11Oct 17, 2018
DYSF1Jun 13, 2018
EDAR1Oct 17, 2018
EFL11Oct 17, 2018
EIF3F1Dec 18, 2019
ENG1Jun 13, 2018
EPG522Jan 21, 2019
EPHB428Jun 21, 2019
ESR11Jul 6, 2017
ESRP11Oct 17, 2018
FAT22Oct 17, 2018
FBN13Jun 13, 2018
FBXL31Oct 17, 2018
FDX22Aug 12, 2019
FGFR11Jun 13, 2018
FGFR22Oct 17, 2018
FLNA1Jun 13, 2018
FN16Oct 17, 2018
GAA1Jun 13, 2018
GAB11Oct 17, 2018
GALC1Jun 13, 2018
GALNT31Oct 17, 2018
GALT1Jun 13, 2018
GBA27Mar 27, 2019
GDF62Oct 17, 2018
GGA33Jan 21, 2019
GHR1Jun 13, 2018
GINS12Oct 17, 2018
GLA1Jun 13, 2018
GLI11Oct 17, 2019
GLI31Jun 13, 2018
GP91Jun 13, 2018
GPAA16Oct 17, 2018
GPC42Oct 17, 2019
GRAP1Aug 12, 2019
GUCA1A16Jun 11, 2020
GUCY2D1Oct 17, 2018
HAAO2Apr 18, 2018
HFE1Jun 13, 2018
HFE-AS11Jun 13, 2018
HIBCH1Oct 17, 2018
HMGCS22Oct 17, 2018
HNF1B1Jun 13, 2018
HNRNPUL2-BSCL21Jun 13, 2018
IFT432Oct 17, 2018
IFT814Oct 17, 2018
IKBKB1Jan 21, 2019
INTU3Oct 17, 2018
IREB22Aug 27, 2019
JAG14Oct 17, 2018
KANSL13Jun 21, 2019
KCNE11Jun 13, 2018
KCNH22Jun 13, 2018
KCNQ12Oct 17, 2018
KCNQ21Jun 13, 2018
KDM5B2May 17, 2019
KIF1A37Jun 17, 2020
KIF5C1Jun 13, 2018
KIF71Jun 13, 2018
KL1Oct 17, 2018
KMT2B11Jul 27, 2018
KMT2C3Apr 18, 2018
KMT5B4Jan 21, 2019
LDHD2Aug 27, 2019
LDLR1Jun 13, 2018
LIPT23Apr 18, 2018
LMNA1Jun 13, 2018
LOC1002878962Apr 18, 2018
LOC1019285253Oct 17, 2018
LOC1053710491Jun 13, 2018
LRP51Jun 13, 2018
LTBP31Oct 17, 2018
MAFA1Oct 17, 2018
MAPK8IP38Oct 17, 2019
MBD53Oct 17, 2018
MCCC11Oct 17, 2018
MCCC22Oct 17, 2018
MECP22Jun 13, 2018
MEFV1Jun 13, 2018
MEI11Oct 17, 2019
MFF-DT3Oct 17, 2018
MFN23Jun 13, 2018
MKKS2Jun 13, 2018
MPV1720Sep 24, 2019
MRPS23Oct 17, 2018
MRPS342Apr 18, 2018
MRPS71Apr 18, 2018
MTA32Apr 18, 2018
MTHFD15Oct 17, 2018
MYBPC32Jun 13, 2018
MYH310Sep 24, 2019
MYH71Jun 13, 2018
MYL11Sep 24, 2019
MYLK1Jun 13, 2018
MYO7A3Jun 13, 2018
MYORG24Aug 27, 2019
NARS23Oct 17, 2019
NDUFAF21Mar 27, 2019
NDUFAF31Mar 27, 2019
NDUFAF41Mar 27, 2019
NDUFS33Mar 27, 2019
NF12Jun 13, 2018
NFIB4Oct 17, 2019
NLRP11Apr 18, 2018
NLRP31Oct 17, 2018
NOTCH21Apr 18, 2018
NPC11Jun 13, 2018
NPHS11Jun 13, 2018
NTRK11Jun 13, 2018
NUP1072Jul 9, 2019
NUP1333Jan 21, 2019
NUP1602Jan 21, 2019
NUP371Jan 21, 2019
NUP853Jan 21, 2019
OPA11Jun 13, 2018
ORC41Jun 13, 2018
PAK12Aug 27, 2019
PANK21Jun 13, 2018
PARS26Oct 17, 2019
PATL28Apr 18, 2018
PCGF22Aug 27, 2019
PDGFRB1Jun 13, 2018
PDZD75Oct 17, 2018
PEX12Jun 13, 2018
PEX31Apr 18, 2018
PFKM1Jun 13, 2018
PGM11Jun 13, 2018
PHEX1Jun 13, 2018
PHYH1Jun 13, 2018
PIGC3Oct 17, 2018
PIGS3Aug 27, 2019
PIK3C2A1Oct 17, 2019
PIK3CD1Jun 13, 2018
PKD11Jun 13, 2018
PKHD19Jun 13, 2018
PKP21Jun 13, 2018
PLD31Oct 17, 2018
PMM23Jun 13, 2018
POLG3Jun 13, 2018
POLH1Jun 13, 2018
POLR1C1Jun 13, 2018
POMT22Jun 13, 2018
PPP2CA12Aug 12, 2019
PRICKLE11Jun 13, 2018
PRKAG21Jun 13, 2018
PSEN21Jun 13, 2018
PTCHD1-AS1Jun 13, 2018
PTPRQ1Apr 18, 2018
PUM13Oct 17, 2018
PYGM1Jun 13, 2018
RAB11B2Oct 17, 2018
RAB181Jun 13, 2018
RAD211Jan 21, 2019
RANBP21Oct 17, 2018
RASA11Jun 13, 2018
RHOBTB26Oct 17, 2018
RNASEH2B1Jun 13, 2018
RNASEH2C1Jun 13, 2018
RPE659Feb 19, 2020
RPL36A-HNRNPH21Jun 13, 2018
RS12Jun 13, 2018
RUNX21Jun 13, 2018
RYR11Jun 13, 2018
RYR21Jun 13, 2018
SASH18Dec 18, 2019
SBDS6Jun 13, 2018
SCN1A1Jun 13, 2018
SCN5A2Oct 17, 2018
SCN8A1Jun 13, 2018
SEC61A11Apr 18, 2018
SELENBP13Apr 18, 2018
SEMA4A1Jun 13, 2018
SERAC11Apr 18, 2018
SETBP12Jun 13, 2018
SGCB2Jun 13, 2018
SGCG1Jun 13, 2018
SGSH2Jun 13, 2018
SIX61Jun 13, 2018
SKI1Jun 13, 2018
SLC16A21Jun 13, 2018
SLC17A52Jun 13, 2018
SLC1A21Apr 18, 2018
SLC22A51Jun 13, 2018
SLC25A421Sep 24, 2019
SLC26A41Jun 13, 2018
SLC36A12Oct 17, 2018
SLC39A41Jun 13, 2018
SLC6A62Feb 19, 2020
SLC9A71Aug 12, 2019
SMARCB11Oct 17, 2018
SMPD46Feb 19, 2020
SOHLH11Apr 18, 2018
SPAST2Oct 17, 2018
SPATA221Jun 13, 2018
SPG71Jun 13, 2018
SRD5A21Jun 13, 2018
SRPX21Jun 13, 2018
SSUH21Jun 13, 2018
STAMBP1Jun 13, 2018
SYNE21Jun 13, 2018
SYNGAP11Jun 13, 2018
SYT15Jun 21, 2019
TARDBP1Jun 13, 2018
TBC1D8B2Sep 24, 2019
TBCEL-TECTA1Jun 13, 2018
TBL1X6Feb 19, 2020
TCIRG11Jun 13, 2018
TCN21Jun 13, 2018
TCOF11Jun 13, 2018
TECPR21Jun 13, 2018
TECTA1Jun 13, 2018
TET31Jul 27, 2020
TGFB13Mar 27, 2019
TLK219Oct 17, 2018
TMEM106B1Oct 17, 2018
TMEM171Apr 18, 2018
TMEM671Jun 13, 2018
TNNT32Aug 27, 2019
TRAK11Mar 27, 2019
TREM27Oct 17, 2019
TRHR3Feb 19, 2020
TRIP119Aug 27, 2019
TRIT16Oct 17, 2018
TRPV66Aug 12, 2019
TSC21Jun 13, 2018
TTC21B1Oct 17, 2018
TUBB4B2Oct 17, 2018
TXNRD21Oct 17, 2018
UBTF1Apr 18, 2018
UFSP21Oct 17, 2018
USH2A3Jun 13, 2018
VIM1Apr 18, 2018
WDR353Oct 17, 2018
WFS11Jun 13, 2018
YWHAG5Apr 18, 2018
ZNF3414Aug 12, 2019
ZSWIM61Jun 13, 2018

Condition

NameSubmissionsLast Updated
2-aminoadipic 2-oxoadipic aciduria1Apr 18, 2018
3 Methylcrotonyl-CoA carboxylase 1 deficiency1Oct 17, 2018
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency1Jun 13, 2018
3-methylcrotonyl CoA carboxylase 2 deficiency2Oct 17, 2018
3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia1Oct 17, 2018
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome1Apr 18, 2018
ALG8-CDG1Jun 13, 2018
ARTHROGRYPOSIS, DISTAL, TYPE 2B22Aug 27, 2019
ARTHROGRYPOSIS, DISTAL, TYPE 2B35Sep 24, 2019
Achondrogenesis, type IA4Aug 27, 2019
Acrocephalosyndactyly type I1Oct 17, 2018
Acromelic frontonasal dysostosis1Jun 13, 2018
Acyl-CoA dehydrogenase family, member 9, deficiency of1Jun 13, 2018
Adrenoleukodystrophy1Jun 13, 2018
Adult hypophosphatasia1Jun 13, 2018
Aicardi Goutieres syndrome 21Jun 13, 2018
Aicardi Goutieres syndrome 31Jun 13, 2018
Alagille syndrome 12Oct 17, 2018
Allan-Herndon-Dudley syndrome1Jun 13, 2018
Alport syndrome 3, autosomal dominant1Jun 13, 2018
Alport syndrome, autosomal recessive1Oct 17, 2018
Alternating hemiplegia of childhood 21Jun 13, 2018
Alzheimer disease, type 41Jun 13, 2018
Amyotrophic lateral sclerosis type 101Jun 13, 2018
Aortic aneurysm, familial thoracic 71Jun 13, 2018
Argininosuccinate lyase deficiency1Jun 13, 2018
Arrhythmogenic right ventricular cardiomyopathy, type 81Jun 13, 2018
Arrhythmogenic right ventricular cardiomyopathy, type 91Jun 13, 2018
Ataxia-telangiectasia syndrome2Jun 13, 2018
Autoinflammation with arthritis and dyskeratosis1Apr 18, 2018
Autosomal dominant nonsyndromic deafness 61Jun 13, 2018
Autosomal recessive centronuclear myopathy4Mar 27, 2019
Autosomal recessive congenital ichthyosis 21Jun 13, 2018
Autosomal recessive limb-girdle muscular dystrophy type 2B1Jun 13, 2018
Autosomal recessive limb-girdle muscular dystrophy type 2E2Jun 13, 2018
Autosomal recessive polycystic kidney disease9Jun 13, 2018
BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 7, AUTOSOMAL RECESSIVE24Aug 27, 2019
BECK-FAHRNER SYNDROME1Jul 27, 2020
Bardet-Biedl syndrome 121Jun 13, 2018
Bardet-Biedl syndrome 62Jun 13, 2018
Bernard Soulier syndrome1Jun 13, 2018
Bestrophinopathy, autosomal recessive1Jun 13, 2018
Beta-hydroxyisobutyryl-CoA deacylase deficiency1Oct 17, 2018
Brugada syndrome 11Jun 13, 2018
CATARACT 481Sep 24, 2019
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2EE1Sep 24, 2019
CHARGE association2Jun 13, 2018
COFFIN-SIRIS SYNDROME 62Oct 17, 2018
COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA5Oct 17, 2018
Capillary malformation-arteriovenous malformation 11Jun 13, 2018
Capillary malformation-arteriovenous malformation 228Jun 21, 2019
Cataract 301Apr 18, 2018
Catecholaminergic polymorphic ventricular tachycardia type 11Jun 13, 2018
Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B3Jun 13, 2018
Charcot-Marie-Tooth disease, axonal, type 2O1Oct 17, 2018
Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder1Apr 18, 2018
Choroidal dystrophy, central areolar 11Oct 17, 2018
Ciliary dyskinesia, primary, 141Jun 13, 2018
Ciliary dyskinesia, primary, 171Jun 13, 2018
Citrullinemia type I1Jun 13, 2018
Classic homocystinuria3Jun 13, 2018
Cleidocranial dysostosis1Jun 13, 2018
Combined immunodeficiency due to GINS1 deficiency2Oct 17, 2018
Combined oxidative phosphorylation deficiency 242Oct 17, 2019
Combined oxidative phosphorylation deficiency 322Apr 18, 2018
Combined oxidative phosphorylation deficiency 341Apr 18, 2018
Combined oxidative phosphorylation deficiency 356Oct 17, 2018
Combined oxidative phosphorylation deficiency 363Oct 17, 2018
Cone dystrophy 316Jun 11, 2020
Cone-rod dystrophy and hearing loss 25Feb 19, 2020
Congenital disorder of glycosylation, type Ia3Jun 13, 2018
Congenital dyserythropoietic anemia type type 1B6Aug 12, 2019
Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B21Jun 13, 2018
Congenital myopathy with excess of thin filaments2Jun 11, 2020
Congenital myopathy with reduced type 2 muscle fibers1Sep 24, 2019
Contractures, pterygia, and variable skeletal fusions syndrome 1A3Sep 24, 2019
Cortical dysplasia, complex, with other brain malformations 21Jun 13, 2018
Crouzon syndrome1Apr 18, 2018
Cutis laxa, autosomal recessive IIIA1Jun 13, 2018
Cystic fibrosis2Jun 13, 2018
DEAFNESS, AUTOSOMAL DOMINANT 731Apr 18, 2018
DEAFNESS, AUTOSOMAL RECESSIVE 1091Oct 17, 2018
DEAFNESS, AUTOSOMAL RECESSIVE 1141Aug 12, 2019
DEAFNESS, AUTOSOMAL RECESSIVE 575Oct 17, 2018
DEAFNESS, AUTOSOMAL RECESSIVE 941Oct 17, 2019
Deafness, autosomal recessive 261Oct 17, 2018
Deafness, autosomal recessive 327Mar 27, 2019
Deafness, autosomal recessive 481Oct 17, 2018
Deafness, congenital heart defects, and posterior embryotoxon1Oct 17, 2018
Decreased antibody level in blood1Apr 18, 2018
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase1Jun 13, 2018
Deficiency of acetyl-CoA acetyltransferase1Oct 17, 2018
Dilated cardiomyopathy 1A1Jun 13, 2018
Dilated cardiomyopathy 1S1Jun 13, 2018
Dilated cardiomyopathy 3B1Jun 13, 2018
Dominant hereditary optic atrophy1Jun 13, 2018
Dyschromatosis universalis hereditaria 18Dec 18, 2019
Dystonia 28, childhood-onset11Jul 27, 2018
EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 21Oct 17, 2018
ENCEPHALOPATHY, NEONATAL SEVERE, WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES3Apr 18, 2018
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 565Apr 18, 2018
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 633Oct 17, 2018
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 646Oct 17, 2018
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 653Oct 17, 2018
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 671Mar 27, 2019
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 681Mar 27, 2019
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 756Oct 17, 2019
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7611Aug 12, 2019
Early infantile epileptic encephalopathy 131Jun 13, 2018
Early infantile epileptic encephalopathy 71Jun 13, 2018
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant1Oct 17, 2018
Ehlers-Danlos syndrome, classic type1Jun 13, 2018
Enlarged vestibular aqueduct1Jun 13, 2018
Epileptic encephalopathy, early infantile, 411Apr 18, 2018
Epileptic encephalopathy, early infantile, 491Apr 18, 2018
Episodic ataxia type 21Oct 17, 2018
Estrogen resistance1Jul 6, 2017
Extra oral halitosis3Apr 18, 2018
Exudative vitreoretinopathy 41Jun 13, 2018
Fabry disease1Jun 13, 2018
Familial Mediterranean fever1Jun 13, 2018
Familial X-linked hypophosphatemic vitamin D refractory rickets1Jun 13, 2018
Familial adenomatous polyposis 12Oct 17, 2018
Familial hypercholesterolemia 11Jun 13, 2018
Familial hypertrophic cardiomyopathy 42Jun 13, 2018
Familial hypertrophic cardiomyopathy 61Jun 13, 2018
Familial hypoplastic, glomerulocystic kidney1Jun 13, 2018
Farber disease1Apr 18, 2018
Finnish congenital nephrotic syndrome1Jun 13, 2018
Freeman-Sheldon syndrome2Sep 24, 2019
GALLOWAY-MOWAT SYNDROME 71Jul 9, 2019
GELEOPHYSIC DYSPLASIA 31Oct 17, 2018
GLUCOCORTICOID DEFICIENCY 51Oct 17, 2018
GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 156Oct 17, 2018
GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 163Oct 17, 2018
GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 183Aug 27, 2019
Galactosylceramide beta-galactosidase deficiency1Jun 13, 2018
Glucocorticoid deficiency with achalasia1Jun 13, 2018
Glycogen storage disease, type II1Jun 13, 2018
Glycogen storage disease, type V1Jun 13, 2018
Glycogen storage disease, type VII1Jun 13, 2018
Goldblatt hypertension5Aug 27, 2019
Greig cephalopolysyndactyly syndrome1Jun 13, 2018
HYDATIDIFORM MOLE, RECURRENT, 31Oct 17, 2019
HYDATIDIFORM MOLE, RECURRENT, 41Oct 17, 2019
HYPER-IgE RECURRENT INFECTION SYNDROME 3, AUTOSOMAL RECESSIVE4Aug 12, 2019
HYPEREKPLEXIA 42Oct 17, 2018
HYPERPARATHYROIDISM, TRANSIENT NEONATAL6Aug 12, 2019
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 73Feb 19, 2020
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 86Feb 19, 2020
Hajdu-Cheney syndrome1Apr 18, 2018
Hemochromatosis type 11Jun 13, 2018
Hereditary acrodermatitis enteropathica1Jun 13, 2018
Hereditary fructosuria1Jun 13, 2018
Hereditary hemorrhagic telangiectasia type 11Jun 13, 2018
Hereditary insensitivity to pain with anhidrosis1Jun 13, 2018
Hereditary spastic paraplegia 3A1Jun 13, 2018
Hereditary spastic paraplegia 71Jun 13, 2018
Hydrolethalus syndrome 21Jun 13, 2018
Hyperphosphatemic familial tumoral calcinosis 11Oct 17, 2018
Hyperphosphatemic familial tumoral calcinosis 31Oct 17, 2018
Hypogonadotropic hypogonadism 2 with or without anosmia1Jun 13, 2018
Hypogonadotropic hypogonadism 5 with or without anosmia1Jun 13, 2018
Hypokalemic periodic paralysis 11Jun 13, 2018
Hypomagnesemia, seizures, and mental retardation 11Apr 18, 2018
IMMUNODEFICIENCY 15A1Jan 21, 2019
INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY3Mar 27, 2019
INTELLECTUAL DEVELOPMENTAL DISORDER 60 WITH SEIZURES1Dec 18, 2019
INTELLECTUAL DEVELOPMENTAL DISORDER WITH MACROCEPHALY, SEIZURES, AND SPEECH DELAY2Aug 27, 2019
INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEVERE SPEECH AND AMBULATION DEFECTS2Aug 12, 2019
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 671Dec 18, 2019
INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 1081Aug 12, 2019
Immunodeficiency 141Jun 13, 2018
Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome5Jun 21, 2019
Infantile myofibromatosis 11Jun 13, 2018
Intellectual disability, autosomal dominant 514Jan 21, 2019
Intellectual disability, autosomal dominant 916Jun 17, 2020
Intellectual disability, autosomal recessive 652May 17, 2019
Islet cell adenomatosis1Oct 17, 2018
Joubert syndrome 32Jun 13, 2018
Joubert syndrome 51Jun 13, 2018
Joubert syndrome 61Jun 13, 2018
Juvenile retinoschisis2Jun 13, 2018
Keipert syndrome2Oct 17, 2019
Keratitis fugax hereditaria1Oct 17, 2018
Kleefstra syndrome 23Apr 18, 2018
Koolen-de Vries syndrome3Jun 21, 2019
LEBER CONGENITAL AMAUROSIS WITH EARLY-ONSET DEAFNESS2Oct 17, 2018
LEUKODYSTROPHY, HYPOMYELINATING, 161Oct 17, 2018
LEUKODYSTROPHY, HYPOMYELINATING, 1810Oct 17, 2019
Lactic aciduria due to d-lactic acid2Aug 27, 2019
Laron-type isolated somatotropin defect1Jun 13, 2018
Leber congenital amaurosis 29Feb 19, 2020
Limb-girdle muscular dystrophy, type 2A2Jun 13, 2018
Limb-girdle muscular dystrophy, type 2L3Jun 13, 2018
Long QT syndrome 12Oct 17, 2018
Long QT syndrome 145Jul 27, 2020
Long QT syndrome 22Jun 13, 2018
Long QT syndrome 31Oct 17, 2018
Long QT syndrome 51Jun 13, 2018
MACROCEPHALY, ACQUIRED, WITH IMPAIRED INTELLECTUAL DEVELOPMENT4Oct 17, 2019
MENTAL RETARDATION, AUTOSOMAL DOMINANT 5719Oct 17, 2018
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 662Feb 19, 2020
METABOLIC CRISES, RECURRENT, WITH VARIABLE ENCEPHALOMYOPATHIC FEATURES AND NEUROLOGIC REGRESSION1Sep 24, 2019
MICROCEPHALY 24, PRIMARY, AUTOSOMAL RECESSIVE1Jan 21, 2019
MULTIPLE SYNOSTOSES SYNDROME 42Oct 17, 2018
MYOPATHY, CONGENITAL, WITH STRUCTURED CORES AND Z-LINE ABNORMALITIES1Jul 27, 2020
MYOPATHY, DISTAL, 6, ADULT-ONSET, AUTOSOMAL DOMINANT2Jul 27, 2020
Malignant hyperthermia, susceptibility to, 11Jun 13, 2018
Maple syrup urine disease2Jun 13, 2018
Marfan syndrome3Jun 13, 2018
Meier-Gorlin syndrome 21Jun 13, 2018
Meier-gorlin syndrome 79Oct 17, 2018
Mental retardation, autosomal dominant 13Oct 17, 2018
Mental retardation, autosomal dominant 151Oct 17, 2018
Mental retardation, autosomal dominant 51Jun 13, 2018
Metachromatic leukodystrophy1Oct 17, 2018
Methemoglobinemia type 42Oct 17, 2018
Microcephalic osteodysplastic dysplasia, Saul-Wilson type1Aug 12, 2019
Microcephaly-capillary malformation syndrome1Jun 13, 2018
Mitochondrial complex 1 deficiency, nuclear type 101Mar 27, 2019
Mitochondrial complex 1 deficiency, nuclear type 151Mar 27, 2019
Mitochondrial complex 1 deficiency, nuclear type 181Mar 27, 2019
Mitochondrial complex 1 deficiency, nuclear type 83Mar 27, 2019
Mitochondrial myopathy2Aug 12, 2019
Mucopolysaccharidosis type 64Jun 13, 2018
Mucopolysaccharidosis, MPS-III-A1Jun 13, 2018
Mungan syndrome1Jan 21, 2019
Muscular dystrophy1Apr 18, 2018
Myasthenic syndrome, congenital, 81Oct 17, 2018
Myofibrillar myopathy 11Apr 18, 2018
NEPHROTIC SYNDROME, TYPE 173Jan 21, 2019
NEPHROTIC SYNDROME, TYPE 183Jan 21, 2019
NEPHROTIC SYNDROME, TYPE 192Jan 21, 2019
NEPHROTIC SYNDROME, TYPE 202Sep 24, 2019
NEURODEGENERATION, CHILDHOOD-ONSET, STRESS-INDUCED, WITH VARIABLE ATAXIA AND SEIZURES1Jan 21, 2019
NEURODEGENERATION, EARLY-ONSET, WITH CHOREOATHETOID MOVEMENTS AND MICROCYTIC ANEMIA2Aug 27, 2019
NEURODEVELOPMENTAL DISORDER AND LANGUAGE DELAY WITH OR WITHOUT STRUCTURAL BRAIN ABNORMALITIES12Aug 12, 2019
NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER2Oct 17, 2018
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES6Feb 19, 2020
NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND SPEECH AND WALKING IMPAIRMENT2Dec 18, 2019
Navajo neurohepatopathy19Sep 24, 2019
Nemaline myopathy 71Apr 18, 2018
Nephronophthisis 121Oct 17, 2018
Nephrotic syndrome, type 111Jan 21, 2019
Neurodegeneration with brain iron accumulation 41Jun 13, 2018
Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA8Oct 17, 2019
Neurofibromatosis, type 12Jun 13, 2018
Neuronal ceroid lipofuscinosis 52Oct 17, 2018
Neuronal ceroid lipofuscinosis 61Jun 13, 2018
Neuronal ceroid lipofuscinosis 81Jun 13, 2018
Niemann-Pick disease type C11Jun 13, 2018
Noonan syndrome 71Jun 13, 2018
OCULOSKELETODENTAL SYNDROME1Oct 17, 2019
OOCYTE MATURATION DEFECT 48Apr 18, 2018
OVARIAN DYSGENESIS 51Apr 18, 2018
Orofaciodigital syndrome I1Apr 18, 2018
Orofaciodigital syndrome type 61Jun 13, 2018
POLYCYSTIC KIDNEY DISEASE 6 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE3Oct 17, 2018
POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 27Oct 17, 2019
POLYMICROGYRIA WITH OR WITHOUT VASCULAR-TYPE EHLERS-DANLOS SYNDROME4Aug 12, 2019
Periventricular nodular heterotopia 11Jun 13, 2018
Peroxisome biogenesis disorder 10b1Apr 18, 2018
Peroxisome biogenesis disorder 1A (Zellweger)2Jun 13, 2018
Phytanic acid storage disease1Jun 13, 2018
Pigmentary pallidal degeneration1Jun 13, 2018
Polycystic kidney disease, adult type1Jun 13, 2018
Polydactyly, preaxial I1Oct 17, 2019
Primary autosomal recessive microcephaly 51Oct 17, 2018
Primary hyperoxaluria, type I1Jun 13, 2018
Progressive familial intrahepatic cholestasis 31Jun 13, 2018
Progressive pseudorheumatoid dysplasia3Mar 27, 2019
Progressive sclerosing poliodystrophy1Jun 13, 2018
Protoporphyria, erythropoietic, 21Oct 17, 2018
Recessive dystrophic epidermolysis bullosa2Jun 13, 2018
Retinal degeneration2Feb 19, 2020
Retinal dystrophy1Feb 19, 2020
Retinitis pigmentosa 391Jun 13, 2018
Retinitis pigmentosa 811Oct 17, 2018
Retinitis pigmentosa 831Jan 21, 2019
Retinitis pigmentosa 842Jan 21, 2019
Rett syndrome2Jun 13, 2018
Rippling muscle disease 21Jun 13, 2018
Rolandic epilepsy with mental retardation and speech dyspraxia, X-linked1Jun 13, 2018
SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES3Oct 17, 2018
SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY1Oct 17, 2018
SHORT-RIB THORACIC DYSPLASIA 19 WITH OR WITHOUT POLYDACTYLY4Oct 17, 2018
SHORT-RIB THORACIC DYSPLASIA 20 WITH POLYDACTYLY3Oct 17, 2018
SHWACHMAN-DIAMOND SYNDROME 21Oct 17, 2018
SNIJDERS BLOK-CAMPEAU SYNDROME20Mar 27, 2019
SPERMATOGENIC FAILURE 271Oct 17, 2018
SPERMATOGENIC FAILURE 393Feb 19, 2020
SPINOCEREBELLAR ATAXIA 452Oct 17, 2018
SPINOCEREBELLAR ATAXIA 461Oct 17, 2018
SPINOCEREBELLAR ATAXIA 473Oct 17, 2018
SPONDYLOEPIMETAPHYSEAL DYSPLASIA, DI ROCCO TYPE1Oct 17, 2018
Salla disease1Jun 13, 2018
Schinzel-Giedion syndrome1Jun 13, 2018
Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome1Jun 13, 2018
Severe autosomal recessive muscular dystrophy of childhood - North African type1Jun 13, 2018
Severe combined immunodeficiency due to CARMIL2 deficiency4Mar 27, 2019
Severe myoclonic epilepsy in infancy1Jun 13, 2018
Short rib polydactyly syndrome 53Oct 17, 2018
Shprintzen-Goldberg syndrome1Jun 13, 2018
Shwachman-Diamond syndrome 16Jun 13, 2018
Sitosterolemia2Jun 13, 2018
Spastic paraplegia 171Jun 13, 2018
Spastic paraplegia 30, autosomal recessive21Jun 17, 2020
Spastic paraplegia 4, autosomal dominant2Oct 17, 2018
Spastic paraplegia 46, autosomal recessive7Mar 27, 2019
Spinocerebellar ataxia type 61Oct 17, 2018
Spondylometaphyseal dysplasia - Sutcliffe type6Oct 17, 2018
Spongy degeneration of central nervous system1Jun 13, 2018
TURNPENNY-FRY SYNDROME2Aug 27, 2019
Tetralogy of Fallot1Oct 17, 2018
Three M syndrome 11Oct 17, 2018
Treacher Collins syndrome 31Jun 13, 2018
Tuberous sclerosis 21Jun 13, 2018
Usher syndrome type 13Jun 13, 2018
Usher syndrome, type 2A2Jun 13, 2018
VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 12Apr 18, 2018
Ventricular tachycardia, catecholaminergic polymorphic, 41Jul 27, 2020
Very long chain acyl-CoA dehydrogenase deficiency1Jun 13, 2018
Vici syndrome22Jan 21, 2019
Wilson disease8Apr 27, 2020
X-linked congenital hemolytic anemia1Oct 17, 2018
Xeroderma pigmentosum variant type1Jun 13, 2018
mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency2Oct 17, 2018
not specified27Jun 13, 2018
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