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Institute for Medical Genetics and Human Genetics (Charité - Universitätsmedizin Berlin), Charité - Universitätsmedizin

General information

Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin
Charité - Universitätsmedizin Berlin
Augustenburger Platz 1
Berlin
Berlin
Germany - 13353
http://genetik.charite.de/
Organization ID: 505735

Personnel

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 534

Gene

GeneSubmissionsLast Updated
ABCA21Oct 2, 2023
ABCB41Dec 16, 2025
ABCC61Dec 16, 2025
ABCC91Sep 22, 2022
ABCF31Oct 23, 2024
ACADS2Dec 16, 2025
ACE1Oct 23, 2024
ACO11Dec 16, 2025
ACOX11Jun 21, 2020
ACTB1Oct 2, 2023
ACTC11Dec 16, 2025
ACTN21Dec 16, 2025
ADA21Dec 16, 2025
ADAMTS151Dec 16, 2025
ADCY31Dec 16, 2025
AGK2Oct 2, 2023
AHI11Jun 21, 2020
AIFM11Sep 23, 2022
ALDH6A11Oct 7, 2022
ANKRD114Dec 16, 2025
ANKS1B1Oct 7, 2022
AP4M11Dec 16, 2025
ARID1B3Oct 7, 2022
ARID5B1Dec 16, 2025
ARNT21Oct 8, 2020
ARSA1Oct 23, 2024
ASS11Oct 2, 2023
ATL12Dec 16, 2025
ATM4Dec 16, 2025
ATP2B11Oct 2, 2023
ATP6AP11Oct 2, 2023
ATP6V1A1Dec 16, 2025
ATP7A2Oct 2, 2023
ATP9A1Sep 22, 2022
ATRIP2Dec 16, 2025
ATRIP-TREX12Dec 16, 2025
ATRX1Oct 7, 2022
AUTS22Oct 2, 2023
BAZ2B1Dec 16, 2025
BBOF11Oct 7, 2022
BCS1L1Sep 22, 2022
BICD21Oct 7, 2022
BRAT11Sep 23, 2022
BRCA24Dec 16, 2025
BRD41Oct 7, 2022
BRIP11Oct 7, 2022
BTK1Sep 22, 2022
C11orf653Dec 16, 2025
C1orf1221Dec 16, 2025
CA21Jun 21, 2020
CACNA1A1Dec 16, 2025
CACNA1G1Oct 7, 2022
CACNA1S2Oct 7, 2022
CACNA2D21Sep 22, 2022
CAPN32Sep 22, 2022
CAPRIN11Oct 2, 2023
CARD112Sep 23, 2022
CARD11-AS11Sep 22, 2022
CASK1Oct 2, 2023
CBL1Dec 16, 2025
CCDC221Oct 23, 2024
CCNH1Sep 22, 2022
CD40LG1Sep 23, 2022
CDC421Dec 16, 2025
CDH21Oct 2, 2023
CELSR12Dec 16, 2025
CERT11Oct 2, 2023
CFTR1Dec 16, 2025
CFTR-AS21Dec 16, 2025
CHD11Sep 23, 2022
CHD21Oct 7, 2022
CHD31Oct 7, 2022
CHD72Dec 16, 2025
CHD81Oct 7, 2022
CHEK21Oct 7, 2022
CLASP12Dec 16, 2025
CLASP1-AS12Dec 16, 2025
CLTC2Sep 22, 2022
CNGA32Dec 16, 2025
CNKSR22Oct 23, 2024
COA61Oct 2, 2023
COG11Sep 22, 2022
COL11A22Oct 2, 2023
COL17A11Sep 22, 2022
COL1A13Oct 7, 2022
COL1A21Jun 14, 2021
COL2A13Oct 7, 2022
COL3A11Sep 22, 2022
COL4A11Oct 7, 2022
COL6A21Oct 2, 2023
CREBBP4Dec 16, 2025
CRLF11Sep 22, 2022
CSNK2A11Oct 2, 2023
CTNNB11Oct 7, 2022
CYB561D21Sep 22, 2022
CYBB1Sep 22, 2022
DCDC21Oct 7, 2022
DCLRE1C1Oct 7, 2022
DCX1Sep 22, 2022
DDX3X4Oct 2, 2023
DHPS2Oct 23, 2024
DHX301Oct 23, 2024
DICER11Oct 7, 2022
DLG31Oct 23, 2024
DLL11Oct 23, 2024
DNAAF11Dec 16, 2025
DNAAF112Dec 16, 2025
DNAAF191Dec 16, 2025
DNAI11Dec 16, 2025
DNMT3A2Oct 23, 2024
DOK72Oct 7, 2022
DOT1L1Dec 16, 2025
DOT1L-AS11Dec 16, 2025
DSP2Dec 16, 2025
DYNC1H14Dec 16, 2025
DYRK1A1Oct 7, 2022
EBF31Sep 22, 2022
ECEL11Sep 22, 2022
EFTUD22Oct 7, 2022
EGR21Oct 2, 2023
EMD1Oct 23, 2024
EP3001Dec 16, 2025
ERCC62Oct 23, 2024
ERCC6L21Oct 7, 2022
FA2H1Oct 2, 2023
FANCA2Sep 22, 2022
FANCD22Oct 7, 2022
FANCD2OS1Oct 7, 2022
FBN11Dec 16, 2025
FBXL41Dec 16, 2025
FBXO111Sep 22, 2022
FDX21Dec 16, 2025
FDX2-ZGLP11Dec 16, 2025
FENDRR1Jun 21, 2020
FGFR11Oct 23, 2024
FGFR31Dec 16, 2025
FLAD12Dec 16, 2025
FLII1Dec 16, 2025
FLNB1Dec 16, 2025
FLNC1Oct 2, 2023
FLNC-AS11Oct 2, 2023
FOXC21Dec 16, 2025
FOXF11Jun 21, 2020
FRMPD41Sep 23, 2022
FTL1Dec 16, 2025
FZD41Sep 22, 2022
GALNS3Dec 16, 2025
GBA22Jul 27, 2020
GDF111Dec 16, 2025
GJB11Dec 16, 2025
GJB31Oct 2, 2023
GJD2-DT1Dec 16, 2025
GLI315Jun 2, 2021
GLMN1Dec 16, 2025
GLUL1Oct 2, 2023
GNAI11Dec 16, 2025
GNAO11Oct 7, 2022
GNAS1Dec 16, 2025
GNB21Sep 22, 2022
GNE2Sep 22, 2022
GP1BA1Oct 7, 2022
GRIN11Sep 22, 2022
GYG11Oct 7, 2022
HBB1Dec 16, 2025
HECTD42Oct 23, 2024
HK12Dec 16, 2025
HNRNPK3Oct 2, 2023
HNRNPK-AS11Oct 2, 2023
HPS11Dec 16, 2025
HSALR11Dec 16, 2025
HSD17B41Sep 23, 2022
HUWE13Oct 23, 2024
IDH11Dec 16, 2025
IFIH12Oct 23, 2024
IFITM51Jun 14, 2021
IGHMBP22Sep 22, 2022
IQSEC21Sep 23, 2022
IRF2BPL1Oct 7, 2022
ITGA81Sep 22, 2022
ITPR33Dec 16, 2025
JAGN11Oct 23, 2024
KANSL11Oct 23, 2024
KCNA21Dec 16, 2025
KCNB11Dec 16, 2025
KCNC21Oct 7, 2022
KCNH21Dec 16, 2025
KCNJ21Dec 16, 2025
KCNT12Oct 2, 2023
KDM3B1Sep 22, 2022
KDM5C1Oct 2, 2023
KIF5A1Jun 21, 2020
KLHL151Sep 23, 2022
KMT2B1Oct 7, 2022
KMT2D3Oct 23, 2024
KMT2E2Oct 7, 2022
KMT5B1Dec 16, 2025
KPTN1Sep 22, 2022
KSR21Oct 2, 2023
KYNU4May 11, 2020
LARP72Oct 7, 2022
LARS12Dec 16, 2025
LDLR3Dec 16, 2025
LIG41Sep 22, 2022
LMNA1Oct 2, 2023
LOC1027240581Oct 2, 2023
LOC1060990621Dec 16, 2025
LOC1067217851Oct 2, 2023
LOC1071335101Dec 16, 2025
LOC1073033381Oct 7, 2022
LOC1073033401Oct 2, 2023
LOC1116744721Dec 16, 2025
LOC1140227061Sep 23, 2022
LOC1148278501Dec 16, 2025
LOC1254677681Oct 23, 2024
LOC1268068781Oct 7, 2022
LOC1268608021Oct 2, 2023
LOC1268615201Jun 21, 2020
LOC1268616152Dec 16, 2025
LOC1268620601Oct 7, 2022
LOC1268626341Sep 22, 2022
LOC1278985641Sep 22, 2022
LOC1284623771Dec 16, 2025
LOC1299944601Sep 23, 2022
LOC1300008321Dec 16, 2025
LOC1300047753Nov 18, 2022
LOC1300634861Dec 16, 2025
LOC1300637171Dec 16, 2025
LRSAM11Oct 23, 2024
LZTR12Jul 27, 2020
MAN2C13Dec 16, 2025
MAPKAPK51Sep 22, 2022
MAST12Oct 2, 2023
MCCC21Dec 16, 2025
MED121Oct 2, 2023
MED13L1Dec 16, 2025
MEIS21Sep 22, 2022
MHRT1Dec 16, 2025
MIR302CHG2Oct 7, 2022
MPV171Sep 22, 2022
MPZ1Dec 16, 2025
MRPL421Jul 31, 2025
MSL31Oct 7, 2022
MT-ATP61Sep 23, 2022
MT-ATP81Sep 23, 2022
MT-CO11Sep 23, 2022
MT-CO21Sep 23, 2022
MT-CO31Sep 23, 2022
MT-CYB1Oct 7, 2022
MT-ND12Sep 23, 2022
MT-ND21Sep 23, 2022
MT-ND32Sep 23, 2022
MT-ND42Sep 23, 2022
MT-ND4L1Sep 23, 2022
MT-ND52Sep 23, 2022
MT-TA1Sep 23, 2022
MT-TC1Sep 23, 2022
MT-TD1Sep 23, 2022
MT-TG1Sep 23, 2022
MT-TH1Sep 23, 2022
MT-TI1Sep 23, 2022
MT-TK1Sep 23, 2022
MT-TL11Sep 23, 2022
MT-TM1Sep 23, 2022
MT-TN1Sep 23, 2022
MT-TQ1Sep 23, 2022
MT-TR1Sep 23, 2022
MT-TS11Sep 23, 2022
MT-TS21Sep 23, 2022
MT-TW1Sep 23, 2022
MT-TY1Sep 23, 2022
MTOR1Dec 16, 2025
MYBPC32Oct 23, 2024
MYCBP21Oct 2, 2023
MYH73Dec 16, 2025
MYL21Dec 16, 2025
MYO5B2Dec 16, 2025
MYRF1Dec 16, 2025
NALCN1Sep 22, 2022
NAXE1Oct 2, 2023
NBEA1Oct 7, 2022
NCAPG21Dec 16, 2025
NCDN1Dec 16, 2025
NECAP11Dec 16, 2025
NF11Dec 16, 2025
NHLRC28Nov 18, 2022
NLRC41Dec 16, 2025
NOTCH21Jun 21, 2020
NOTCH31Dec 16, 2025
NPC12Dec 16, 2025
NR2F11Sep 22, 2022
NR2F1-AS11Sep 22, 2022
NRAS1Dec 16, 2025
NSD13Dec 16, 2025
NSD21Dec 16, 2025
NSRP11Sep 22, 2022
OFD11Sep 23, 2022
PADI61Dec 16, 2025
PAH3Dec 16, 2025
PAK31Sep 22, 2022
PAX31Dec 16, 2025
PCDH192Oct 23, 2024
PDE10A1Oct 7, 2022
PDHA11Dec 16, 2025
PEX11Aug 31, 2020
PEX132Sep 23, 2022
PEX261Dec 16, 2025
PGAP39Mar 15, 2016
PGGHG1Jun 14, 2021
PHIP1Sep 22, 2022
PHKA11Oct 23, 2024
PI4KA2Sep 22, 2022
PIEZO12Dec 16, 2025
PIEZO21Oct 2, 2023
PIGT2Jan 4, 2019
PIK3R21Dec 16, 2025
PITX21Oct 23, 2024
PKP21Dec 16, 2025
PLA2G61Jul 27, 2020
PLCB41Sep 23, 2022
PLS32Sep 23, 2022
PMM22Sep 22, 2022
PMS21Oct 7, 2022
POLA11Dec 16, 2025
POLR1A1Dec 16, 2025
POLR1C1Oct 2, 2023
POLR3B5Dec 16, 2025
PORCN1Oct 2, 2023
POT11Dec 16, 2025
PPA22Dec 16, 2025
PPP1R13L1Dec 16, 2025
PREP2Dec 12, 2025
PRKACB1Dec 16, 2025
PRSS231Sep 22, 2022
PSME41Dec 16, 2025
PTEN3Dec 16, 2025
PTPN114Dec 16, 2025
PTPRA1Oct 2, 2023
PUM11Oct 2, 2023
RAB33A1Sep 23, 2022
RAB3GAP11Sep 22, 2022
RARB1Sep 23, 2022
RASA11Sep 22, 2022
RNASEH2B2Dec 16, 2025
RNU4-11Dec 16, 2025
RNU4-21Dec 16, 2025
RNU4ATAC2Dec 16, 2025
RSPH11Sep 22, 2022
RSPRY11Sep 23, 2022
RUNX11Sep 23, 2022
RUNX1-AS11Sep 23, 2022
RYR12Dec 16, 2025
SALL41Oct 2, 2023
SAMD91Oct 23, 2024
SATB11Oct 7, 2022
SATB21Dec 16, 2025
SCN1A2Oct 2, 2023
SCN2A2Oct 2, 2023
SCN3A1Oct 7, 2022
SCN8A1Oct 2, 2023
SDHA1Dec 16, 2025
SERPINC11Sep 22, 2022
SETBP11Oct 7, 2022
SETD1A1Oct 7, 2022
SETD53Dec 16, 2025
SGMS13Dec 4, 2025
SHANK31Dec 16, 2025
SHOC21Oct 2, 2023
SIRT41Dec 16, 2025
SLC11A21Oct 7, 2022
SLC12A52Sep 22, 2022
SLC12A61Dec 16, 2025
SLC25A261Sep 22, 2022
SLC25A361Oct 7, 2022
SLC26A41Oct 2, 2023
SLC2A11Oct 7, 2022
SLC31A11Nov 14, 2022
SLC34A32Sep 22, 2022
SLC35A21Dec 16, 2025
SMAD41Dec 16, 2025
SMARCA21Oct 2, 2023
SMARCAL12Dec 16, 2025
SOCS12Sep 23, 2022
SOS11Sep 22, 2022
SPAG12Dec 16, 2025
SPEN1Dec 16, 2025
SPG112Oct 23, 2024
SPG72Sep 22, 2022
SPTA11Dec 16, 2025
SRCAP1Dec 16, 2025
STK111Oct 2, 2023
STXBP11Oct 7, 2022
SUCLG11Sep 22, 2022
SURF12Oct 2, 2023
SUZ121Sep 23, 2022
TAF11Oct 23, 2024
TBK11Dec 16, 2025
TBL1XR12Oct 2, 2023
TBL1XR1-AS11Oct 7, 2022
TBX21Oct 7, 2022
TCEAL11Oct 2, 2023
TCF41Dec 16, 2025
TCOF11Oct 23, 2024
TCTN11Sep 23, 2022
TERT2Dec 16, 2025
THSD11Sep 22, 2022
TMEM2371Dec 16, 2025
TMEM2401Dec 16, 2025
TMEM63B1Oct 2, 2023
TMEM701Sep 22, 2022
TP531Oct 2, 2023
TRAPPC21Sep 23, 2022
TRAPPC41Oct 2, 2023
TRDN1Oct 7, 2022
TREX12Dec 16, 2025
TRIO1Oct 2, 2023
TRPM31Oct 2, 2023
TRPM62Sep 23, 2022
TSPAN121Oct 23, 2024
TTN6Dec 16, 2025
TTN-AS12Dec 16, 2025
TTR1Dec 16, 2025
TUBA1A1Oct 2, 2023
TUBB2B1Oct 23, 2024
TUBB4B1Oct 23, 2024
TUSC32Jun 14, 2021
UBQLN41Dec 16, 2025
UNG1Apr 7, 2021
USP9X2Oct 2, 2023
VANGL11Dec 16, 2025
VCP1Feb 16, 2023
VHL1Oct 2, 2023
VIPAS391Oct 23, 2024
VPS13B2Mar 31, 2021
VPS161Oct 2, 2023
VWF2Oct 23, 2024
WDFY31Dec 16, 2025
YRDC1Dec 16, 2025
ZBTB201Sep 22, 2022
ZFHX42Dec 16, 2025
ZMYND112Oct 2, 2023
ZNF1481Dec 16, 2025
ZNF2761Sep 22, 2022
ZNF2921Oct 2, 2023
ZNF3352Oct 2, 2023
ZNF4621Sep 23, 2022

Condition

NameSubmissionsLast Updated
Achromatopsia 21Oct 2, 2023
Acyl-CoA oxidase deficiency1Jun 21, 2020
Agenesis of corpus callosum, cardiac, ocular, and genital syndrome1Oct 2, 2023
Aicardi-Goutieres syndrome 11Sep 22, 2022
Aicardi-Goutieres syndrome 72Oct 23, 2024
Alpha thalassemia-X-linked intellectual disability syndrome1Oct 7, 2022
Alveolar capillary dysplasia with pulmonary venous misalignment1Jun 21, 2020
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma2Dec 16, 2025
Arrhythmogenic right ventricular dysplasia 81Dec 16, 2025
Arthrogryposis, distal, with impaired proprioception and touch2Oct 2, 2023
Arthrogryposis, renal dysfunction, and cholestasis 21Oct 23, 2024
Ataxia-telangiectasia syndrome2Oct 23, 2024
Au-Kline syndrome5Oct 2, 2023
Auriculocondylar syndrome 21Sep 23, 2022
Autism1Jul 27, 2020
Autism spectrum disorder due to AUTS2 deficiency4Oct 2, 2023
Autoinflammatory syndrome with immunodeficiency1Sep 23, 2022
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures1Oct 7, 2022
Autosomal dominant nocturnal frontal lobe epilepsy 51Oct 2, 2023
Autosomal recessive distal spinal muscular atrophy 12Sep 22, 2022
Autosomal recessive hypophosphatemic bone disease2Sep 22, 2022
Autosomal recessive limb-girdle muscular dystrophy type 2A2Sep 22, 2022
Autosomal recessive limb-girdle muscular dystrophy type 2J2Oct 7, 2022
Autosomal recessive nonsyndromic hearing loss 41Oct 2, 2023
Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency1Oct 23, 2024
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 191Dec 16, 2025
Baraitser-Winter syndrome 11Oct 2, 2023
Basilicata-Akhtar syndrome1Oct 7, 2022
Bernard-Soulier syndrome, type A2, autosomal dominant1Oct 7, 2022
Bifunctional peroxisomal enzyme deficiency1Sep 23, 2022
Brain small vessel disease 1 with or without ocular anomalies1Oct 7, 2022
Breast-ovarian cancer, familial, susceptibility to, 21Oct 23, 2024
CBL-related disorder1Dec 16, 2025
CHARGE syndrome1Jan 19, 2023
CHD7-related CHARGE syndrome1Dec 16, 2025
COG1 congenital disorder of glycosylation1Sep 22, 2022
Capillary malformation-arteriovenous malformation 11Sep 22, 2022
Cardiac anomalies - developmental delay - facial dysmorphism syndrome1Dec 16, 2025
Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies1Sep 22, 2022
Cardiac-urogenital syndrome1Dec 16, 2025
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 41Oct 2, 2023
Catecholaminergic polymorphic ventricular tachycardia 51Oct 7, 2022
Catel-Manzke syndrome4May 11, 2020
Cerebellar ataxia1Jul 27, 2020
Cerebellar atrophy with seizures and variable developmental delay1Sep 22, 2022
Charcot-Marie-Tooth disease X-linked dominant 11Dec 16, 2025
Charcot-Marie-Tooth disease axonal type 2P1Oct 23, 2024
Charcot-Marie-Tooth disease type 1D1Oct 2, 2023
Charcot-Marie-Tooth disease, demyelinating, type 1J1Dec 16, 2025
Chromosome 2q32-q33 deletion syndrome1Dec 16, 2025
Citrullinemia type I1Oct 2, 2023
Cockayne syndrome type 22Oct 23, 2024
Coffin-Siris syndrome 13Oct 7, 2022
Cohen syndrome2Mar 31, 2021
Cold-induced sweating syndrome 11Sep 22, 2022
Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 11Oct 7, 2022
Complex cortical dysplasia with other brain malformations 72Oct 23, 2024
Congenital brain dysgenesis due to glutamine synthetase deficiency1Oct 2, 2023
Congenital disorder of deglycosylation 23Dec 16, 2025
Congenital microvillous atrophy2Dec 16, 2025
Congenital myasthenic syndrome 102Oct 7, 2022
Cowden syndrome 12Dec 16, 2025
Cystic fibrosis1Dec 16, 2025
DNA ligase IV deficiency1Sep 22, 2022
DYRK1A-related intellectual disability syndrome1Oct 7, 2022
Deficiency of butyryl-CoA dehydrogenase1Oct 7, 2022
Developmental and epileptic encephalopathy 931Dec 16, 2025
Developmental and epileptic encephalopathy, 131Oct 2, 2023
Developmental and epileptic encephalopathy, 141Oct 7, 2022
Developmental and epileptic encephalopathy, 261Dec 16, 2025
Developmental and epileptic encephalopathy, 321Dec 16, 2025
Developmental and epileptic encephalopathy, 342Sep 22, 2022
Developmental and epileptic encephalopathy, 41Oct 7, 2022
Developmental and epileptic encephalopathy, 91Oct 2, 2023
Diets-Jongmans syndrome1Sep 22, 2022
Dilated cardiomyopathy 1A1Oct 2, 2023
Dilated cardiomyopathy 1G1Oct 2, 2023
Distal arthrogryposis type 5D1Sep 22, 2022
Distal myopathy with posterior leg and anterior hand involvement1Oct 2, 2023
Distichiasis-lymphedema syndrome1Dec 16, 2025
Duane-radial ray syndrome1Oct 2, 2023
Dyskeratosis congenita, autosomal dominant 22Dec 16, 2025
Dystonia 28, childhood-onset1Oct 7, 2022
Dystonia 301Oct 2, 2023
Ehlers-Danlos syndrome, type 41Sep 22, 2022
Emery-Dreifuss muscular dystrophy 1, X-linked1Oct 23, 2024
Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 11Oct 2, 2023
Epidermolysis bullosa, junctional 4, intermediate1Sep 22, 2022
Epilepsy, familial focal, with variable foci 41Oct 7, 2022
Epilepsy, idiopathic generalized, susceptibility to, 121Oct 7, 2022
Erythrokeratodermia variabilis et progressiva 11Oct 2, 2023
Exudative vitreoretinopathy 11Sep 22, 2022
Exudative vitreoretinopathy 51Oct 23, 2024
Familial cancer of breast1Oct 7, 2022
Familial cold autoinflammatory syndrome 41Dec 16, 2025
Fanconi anemia complementation group A2Sep 22, 2022
Fanconi anemia complementation group D12Oct 2, 2023
Fanconi anemia complementation group D22Oct 7, 2022
Fibrosis, neurodegeneration, and cerebral angiomatosis8Nov 18, 2022
Focal dermal hypoplasia1Oct 2, 2023
Frontotemporal dementia and/or amyotrophic lateral sclerosis 41Dec 16, 2025
GNE myopathy2Sep 22, 2022
Generalized epilepsy with febrile seizures plus, type 22Oct 2, 2023
Generalized-onset seizure1Jul 27, 2020
Global developmental delay2Aug 31, 2020
Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies1Dec 16, 2025
Glycogen storage disease IXd1Oct 23, 2024
Glycogen storage disease XV1Oct 7, 2022
Granulomatous disease, chronic, X-linked1Sep 22, 2022
Greig cephalopolysyndactyly syndrome6Jun 2, 2021
Hajdu-Cheney syndrome1Jun 21, 2020
Hemolytic anemia due to hexokinase deficiency1Dec 15, 2025
Hereditary antithrombin deficiency1Sep 22, 2022
Hereditary hyperferritinemia with congenital cataracts1Dec 16, 2025
Hereditary spastic paraplegia 101Jun 21, 2020
Hereditary spastic paraplegia 112Oct 23, 2024
Hereditary spastic paraplegia 351Oct 2, 2023
Hereditary spastic paraplegia 3A1Dec 16, 2025
Hereditary spastic paraplegia 502Dec 16, 2025
Hereditary spastic paraplegia 72Sep 22, 2022
Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX11Sep 23, 2022
Hyper-IgM syndrome type 51Apr 7, 2021
Hyperphosphatasia with intellectual disability syndrome 49Mar 15, 2016
Hypertrichotic osteochondrodysplasia Cantu type1Sep 22, 2022
Hypochondroplasia1Dec 16, 2025
Hypokalemic periodic paralysis, type 12Sep 22, 2022
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism3Dec 16, 2025
Hypotonia, ataxia, and delayed development syndrome1Sep 22, 2022
Immunodeficiency 11b with atopic dermatitis1Sep 22, 2022
Immunodeficiency 471Oct 2, 2023
Infantile liver failure syndrome 11Dec 16, 2025
Intellectual developmental disorder with autism and macrocephaly1Oct 7, 2022
Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities1Sep 22, 2022
Intellectual developmental disorder with poor growth and with or without seizures or ataxia1Oct 2, 2023
Intellectual developmental disorder, autosomal dominant 641Oct 2, 2023
Intellectual disability2Jul 27, 2020
Intellectual disability, X-linked 11Sep 23, 2022
Intellectual disability, X-linked 1024Oct 2, 2023
Intellectual disability, X-linked 1041Sep 23, 2022
Intellectual disability, X-linked 301Sep 22, 2022
Intellectual disability, X-linked 901Oct 23, 2024
Intellectual disability, X-linked 993Oct 2, 2023
Intellectual disability, X-linked syndromic, Turner type2Oct 23, 2024
Intellectual disability, X-linked, syndromic 331Oct 23, 2024
Intellectual disability, X-linked, syndromic, Houge type1Oct 7, 2022
Intellectual disability, autosomal dominant 133Dec 16, 2025
Intellectual disability, autosomal dominant 291Oct 7, 2022
Intellectual disability, autosomal dominant 303Oct 2, 2023
Intellectual disability, autosomal dominant 341Oct 2, 2023
Intellectual disability, autosomal dominant 412Oct 2, 2023
Intellectual disability, autosomal dominant 511Dec 16, 2025
Intellectual disability, autosomal dominant 562Sep 22, 2022
Intellectual disability, autosomal recessive 72Jun 14, 2021
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency3Dec 16, 2025
Intestinal hypomagnesemia 12Sep 23, 2022
Joubert syndrome 131Sep 23, 2022
Joubert syndrome 31Jun 21, 2020
Juvenile myoclonic epilepsy1Oct 2, 2023
KBG syndrome3Sep 23, 2022
Kabuki syndrome 13Oct 23, 2024
Kartagener syndrome1Dec 16, 2025
Koolen-de Vries syndrome2Oct 23, 2024
Leber optic atrophy1Oct 7, 2022
Left ventricular noncompaction 101Oct 7, 2022
Leigh syndrome1Sep 23, 2022
Lethal acantholytic epidermolysis bullosa1Dec 16, 2025
Li-Fraumeni syndrome 11Oct 2, 2023
Lissencephaly due to TUBA1A mutation1Oct 2, 2023
Lissencephaly type 1 due to doublecortin gene mutation1Sep 22, 2022
Lymphatic malformation 62Dec 16, 2025
Lymphatic malformation 92Dec 16, 2025
MIRAGE syndrome1Oct 23, 2024
Macrocephaly-autism syndrome2Dec 16, 2025
Macrocephaly-developmental delay syndrome1Sep 22, 2022
Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome1Dec 16, 2025
Malignant hyperthermia, susceptibility to, 51Oct 7, 2022
Mandibulofacial dysostosis-microcephaly syndrome2Oct 7, 2022
Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations1Oct 7, 2022
Menke-Hennekam syndrome 12Oct 2, 2023
Menke-Hennekam syndrome 21Dec 16, 2025
Menkes kinky-hair syndrome1Oct 2, 2023
Metachondromatosis1Oct 7, 2022
Metachromatic leukodystrophy, adult type1Oct 23, 2024
Methylmalonate semialdehyde dehydrogenase deficiency1Oct 7, 2022
Microcephalic primordial dwarfism due to ZNF335 deficiency2Oct 2, 2023
Microcephalic primordial dwarfism, Alazami type2Oct 7, 2022
Microcytic anemia with liver iron overload1Oct 7, 2022
Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome1Oct 2, 2023
Microphthalmia, syndromic 121Sep 23, 2022
Migraine, familial hemiplegic, 11Dec 16, 2025
Mitochondrial DNA depletion syndrome 131Dec 16, 2025
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)1Sep 22, 2022
Mitochondrial DNA depletion syndrome 91Sep 22, 2022
Mitochondrial complex III deficiency nuclear type 11Sep 22, 2022
Mitochondrial complex IV deficiency, nuclear type 12Oct 2, 2023
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 21Sep 22, 2022
Myhre syndrome1Dec 16, 2025
Myopathy with abnormal lipid metabolism2Dec 16, 2025
Myosin storage myopathy1Dec 16, 2025
Nephronophthisis 191Oct 7, 2022
Neurocardiofaciodigital syndrome1Sep 22, 2022
Neurodegeneration with ataxia and late-onset optic atrophy1Dec 16, 2025
Neurodevelopmental disorder with cerebellar atrophy and with or without seizures1Sep 23, 2022
Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy1Oct 2, 2023
Neurodevelopmental disorder with gait disturbance, dysmorphic facies, and behavioral abnormalities, X-linked1Oct 2, 2023
Neurodevelopmental disorder with hypotonia and dysmorphic facies1Sep 22, 2022
Neurodevelopmental disorder with infantile epileptic spasms1Dec 16, 2025
Neurodevelopmental disorder with involuntary movements1Oct 7, 2022
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant1Sep 22, 2022
Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures1Oct 7, 2022
Neurodevelopmental disorder with severe motor impairment and absent language1Oct 23, 2024
Neurodevelopmental disorder with speech impairment and dysmorphic facies1Oct 7, 2022
Neurofibromatosis, type 11Dec 16, 2025
Nicolaides-Baraitser syndrome1Oct 2, 2023
Noonan syndrome 12Oct 7, 2022
Noonan syndrome 22Jul 27, 2020
Noonan syndrome 41Sep 22, 2022
Noonan syndrome-like disorder with loose anagen hair 11Oct 2, 2023
Normochromic microcytic anemia1Jul 27, 2020
O'Donnell-Luria-Rodan syndrome2Oct 7, 2022
Okur-Chung neurodevelopmental syndrome1Oct 2, 2023
Osteopetrosis with renal tubular acidosis1Jun 21, 2020
Otospondylomegaepiphyseal dysplasia, autosomal dominant2Oct 2, 2023
PMM2-congenital disorder of glycosylation2Sep 22, 2022
Pancytopenia-developmental delay syndrome1Oct 7, 2022
Paroxysmal nocturnal hemoglobinuria 22Jan 4, 2019
Pectus excavatum1Oct 2, 2023
Penile hypospadias1Aug 31, 2020
Peroxisome biogenesis disorder 11B2Sep 23, 2022
Peroxisome biogenesis disorder 7A (Zellweger)1Dec 16, 2025
Phelan-McDermid syndrome1Dec 16, 2025
Phenylketonuria3Dec 16, 2025
Pierpont syndrome2Oct 2, 2023
Polydactyly, postaxial, type A110Jun 2, 2021
Polymicrogyria1Aug 31, 2020
Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis2Sep 22, 2022
Polyneuropathy2Jul 27, 2020
Postmenopausal osteoporosis5Jun 14, 2021
Primary ciliary dyskinesia 131Dec 16, 2025
Primary ciliary dyskinesia 192Dec 16, 2025
Primary ciliary dyskinesia 241Sep 22, 2022
Primary dilated cardiomyopathy2Jul 27, 2020
Primrose syndrome1Sep 22, 2022
Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome1Sep 23, 2022
Pyruvate dehydrogenase E1-alpha deficiency1Dec 16, 2025
Radio-Tartaglia syndrome1Dec 16, 2025
Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome1Oct 7, 2022
Renal hypodysplasia/aplasia 11Sep 22, 2022
Renal tubular dysgenesis of genetic origin1Oct 23, 2024
Rubinstein-Taybi syndrome due to CREBBP mutations2Dec 16, 2025
Seizure2Aug 31, 2020
Seizures, benign familial infantile, 32Oct 2, 2023
Sengers syndrome2Oct 2, 2023
Sensorineural hearing loss disorder1Jul 27, 2020
Severe combined immunodeficiency due to CARD11 deficiency1Sep 23, 2022
Severe combined immunodeficiency due to DCLRE1C deficiency1Oct 7, 2022
Severe intellectual disability-progressive spastic diplegia syndrome1Oct 7, 2022
Snijders Blok-Campeau syndrome1Oct 7, 2022
Sotos syndrome2Dec 16, 2025
Spastic paraparesis2Jul 27, 2020
Spinocerebellar ataxia type 211Dec 16, 2025
Spinocerebellar ataxia type 421Oct 7, 2022
Spondyloepiphyseal dysplasia tarda, X-linked1Sep 23, 2022
Spondyloepiphyseal dysplasia with metatarsal shortening1Sep 22, 2022
Spondyloepiphyseal dysplasia, Stanescu type1Oct 7, 2022
Striatal degeneration, autosomal dominant 21Oct 7, 2022
Sudden cardiac failure, infantile2Dec 16, 2025
Syndromic X-linked intellectual disability Claes-Jensen type1Oct 2, 2023
Syndromic X-linked intellectual disability Najm type2Oct 2, 2023
Tatton-Brown-Rahman overgrowth syndrome1Oct 2, 2023
Treacher Collins syndrome 11Oct 23, 2024
Ullrich congenital muscular dystrophy 1A1Oct 2, 2023
Vertebral anomalies and variable endocrine and T-cell dysfunction2Oct 7, 2022
Vertebral hypersegmentation and orofacial anomalies1Dec 16, 2025
Very long chain fatty acid accumulation1Aug 31, 2020
Warburg micro syndrome 11Sep 22, 2022
Webb-Dattani syndrome1Oct 8, 2020
X-linked agammaglobulinemia1Sep 22, 2022
not provided113Dec 16, 2025
not specified34Oct 7, 2022
von Willebrand disease type 11Oct 23, 2024