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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
https://www.medicover-diagnostics.de
Organization ID: 505944

Personnel

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 1119

Gene

GeneSubmissionsLast Updated
AARS12Jul 14, 2023
ABCA36Apr 1, 2022
ABCC91Jan 23, 2023
ABCD11Jul 14, 2023
ACADSB1Jan 23, 2023
ACAN1Jan 23, 2023
ACSL41Jan 23, 2023
ACTB2Jan 22, 2018
ACTN22Jul 14, 2023
ACVRL16Jan 11, 2024
ADA21Mar 15, 2024
ADGRV13Sep 28, 2018
ADNP4Jul 14, 2023
AFF21Jul 14, 2023
AGO21Jan 23, 2023
AGTR12Dec 30, 2021
AGXT1Dec 30, 2021
AHDC11Jul 3, 2019
AKAP92Jul 3, 2019
ALDH18A11Jul 14, 2023
ALDH5A11Jan 23, 2023
ALG81Jan 11, 2024
ALKBH82Apr 1, 2022
ALPK31Jul 14, 2023
ANK21Jul 2, 2018
ANKRD115Jan 23, 2023
ANO101Jul 14, 2023
APC3Jan 11, 2024
ARHGAP241Dec 30, 2021
ARHGEF101Oct 8, 2019
ARID1B3Apr 1, 2022
ARX1Oct 1, 2021
ASH1L1Jan 11, 2024
ASPM1Jan 5, 2021
ASXL21Jan 23, 2023
ASXL33Jul 14, 2023
ATP1A21Dec 19, 2018
ATP1A31Apr 1, 2022
ATP6V1B21Jan 11, 2024
ATP7A2Jan 23, 2023
ATRX4Mar 15, 2024
AUTS24Jan 23, 2023
AVPR22Jan 11, 2024
B4GALNT11Mar 15, 2024
B9D21Oct 8, 2019
BAG32Oct 8, 2019
BBS11Apr 17, 2020
BCOR1Jan 23, 2023
BICC11Apr 1, 2021
BLK1Sep 12, 2023
BMPR21Dec 30, 2021
BRAT11Sep 28, 2018
BRCA12Jan 11, 2024
BRD42Jan 23, 2023
BRWD32Jan 11, 2024
C10orf1051Jul 2, 2018
C1S1Jul 14, 2023
CACNA1A10Jan 11, 2024
CACNA1C21Jan 23, 2023
CACNA1C-AS17Mar 6, 2020
CACNA1G2Oct 8, 2019
CACNA1H1Oct 6, 2017
CACNA1S1Jul 14, 2023
CACNA2D12Jul 3, 2019
CACNB21Apr 17, 2020
CALM21Jul 3, 2017
CAMTA11Jan 23, 2023
CAPN31Jan 23, 2023
CASK1Dec 30, 2021
CASQ11Dec 30, 2021
CASQ23Apr 10, 2017
CASR1Jul 14, 2023
CAV32Mar 6, 2020
CBL1Jul 14, 2023
CC2D2A2Jan 23, 2023
CD361Sep 12, 2023
CDH21Jan 11, 2024
CDH234Jan 23, 2023
CDK5RAP21Oct 6, 2017
CEP2902Apr 17, 2020
CFTR3Apr 4, 2019
CHD23Jan 11, 2024
CHD31Jan 23, 2023
CHD72Sep 28, 2018
CHD86Jan 11, 2024
CHM2Dec 30, 2021
CLCN12Oct 1, 2021
CLCN21Sep 28, 2018
CLTC3Jul 14, 2023
CNOT31Mar 15, 2024
COL11A11Jan 22, 2018
COL11A23Jul 1, 2020
COL12A11Jul 14, 2023
COL1A15May 21, 2024
COL1A22Apr 4, 2019
COL2A11Jan 22, 2018
COL4A12Mar 15, 2024
COL4A23Sep 12, 2023
COL4A312Jan 11, 2024
COL4A43Jan 11, 2024
COL4A511Jan 11, 2024
COPB21Jul 14, 2023
CPLANE12Apr 1, 2022
CREBBP8Jan 11, 2024
CRPPA1Apr 6, 2018
CSF2RA1Apr 1, 2021
CSF2RB2Apr 1, 2021
CSNK2A12Jan 23, 2023
CTBP11Mar 15, 2024
CTCF1Jul 14, 2023
CTNNB13Oct 1, 2020
CUL4B1Jan 11, 2024
CUX11Jan 23, 2023
CYFIP21Apr 1, 2022
CYP21A22Jul 14, 2023
CYP24A11Jul 14, 2023
D2HGDH1Jul 14, 2023
DCC1Jan 23, 2023
DDOST1Apr 4, 2019
DDX3X6Mar 15, 2024
DEAF11Apr 10, 2017
DEPDC52Sep 28, 2018
DES1Jul 14, 2023
DIAPH31Oct 8, 2019
DIAPH3-AS11Oct 8, 2019
DIP2B1Dec 30, 2021
DLL11Jan 23, 2023
DNAAF21Jan 11, 2024
DNAH112Apr 1, 2021
DNM12Jul 14, 2023
DNM21Jan 23, 2023
DNMT3A2Dec 30, 2021
DOCK31Jul 14, 2023
DPP61Jan 23, 2023
DPYD1Jul 14, 2023
DSG11Mar 15, 2024
DSG21Jul 14, 2023
DSP1Oct 6, 2017
DSTYK1Oct 1, 2021
DYNC1H14Jan 11, 2024
DYNC2H12Jul 3, 2019
DYNC2I21Mar 6, 2020
DYRK1A1Jul 3, 2019
EBF31Jul 2, 2018
EED1Oct 1, 2020
EFHC21Sep 12, 2023
EGFR1Jul 14, 2023
EGFR-AS11Jul 14, 2023
EHMT14Jul 14, 2023
ELP22Jul 14, 2023
EME21Apr 1, 2022
ENG3Jan 11, 2024
EP3002Jan 5, 2021
ERAL11Apr 1, 2022
ERBB31Jan 23, 2023
EYS1Jul 3, 2019
F13A11Jan 11, 2024
F21Jan 11, 2024
F51Jan 11, 2024
F74Apr 1, 2022
F86Jan 11, 2024
F94Jan 11, 2024
FAT31Apr 1, 2022
FBN11Jan 23, 2023
FBN21Jan 23, 2023
FBXO111Jan 11, 2024
FBXO381Jan 23, 2023
FGD12Apr 1, 2022
FGF141Mar 15, 2024
FGFR11Mar 15, 2024
FGFR31Jul 14, 2023
FLCN1Jul 8, 2021
FLNA1Jan 23, 2023
FLNB1Jul 14, 2023
FLNC1Jul 14, 2023
FN11Apr 1, 2022
FOXF11Jul 2, 2018
FOXG11Oct 1, 2020
FOXH11Jul 3, 2019
FOXP13Jul 14, 2023
FTSJ11Apr 10, 2017
FZR11Dec 30, 2021
GABRA11Jul 14, 2023
GARS12Jan 23, 2023
GATA61Jul 14, 2023
GATAD2B2Apr 4, 2019
GCDH1Jan 23, 2023
GCM22Jan 23, 2023
GDF21Apr 1, 2021
GJA11Dec 30, 2021
GJB11Oct 8, 2019
GJB21Apr 6, 2018
GLA1Jan 11, 2024
GLI21Sep 12, 2023
GLI31Apr 17, 2020
GNAI11Sep 12, 2023
GPD1L1Jul 2, 2018
GRIA31Jan 23, 2023
GRIK21Apr 4, 2019
GRIN11Oct 1, 2021
GRIN2A2Jan 23, 2023
GRIN2B5Apr 1, 2022
H3-3B1Jul 14, 2023
HBA-LCR2Oct 1, 2020
HCFC11Dec 30, 2021
HCN43Jul 3, 2019
HDAC82Mar 6, 2020
HERC12Jan 23, 2023
HERC22Dec 30, 2021
HIVEP22Jan 23, 2023
HNF1B1Jan 23, 2023
HSPG21Jul 14, 2023
HUWE11Dec 30, 2021
IFT1401Oct 1, 2021
IGF1R1Apr 1, 2022
IQSEC22Oct 1, 2020
IRAK1BP11Jan 23, 2023
ITPR12Mar 15, 2024
JAG12Jul 14, 2023
JAG22Apr 1, 2022
KAT6A1Sep 28, 2018
KAT6B1Jan 23, 2023
KCNA11Apr 10, 2017
KCND31Jul 2, 2018
KCNE14Apr 1, 2022
KCNE23Jul 3, 2019
KCNE32Apr 17, 2020
KCNH11Jul 2, 2018
KCNH250Apr 1, 2022
KCNJ181Jul 3, 2017
KCNJ211Apr 1, 2022
KCNJ52Mar 6, 2020
KCNJ81Apr 10, 2017
KCNQ153Feb 19, 2024
KCNQ1-AS11Jul 2, 2018
KCNQ26Jan 23, 2023
KCNQ41Oct 1, 2020
KCNQ51Oct 1, 2020
KDM4B1Jan 23, 2023
KDM5B1Jan 23, 2023
KDM5C2Apr 1, 2022
KDM6A2Jan 23, 2023
KIF111Mar 15, 2024
KIF1A3Oct 1, 2020
KIF4A1Jul 14, 2023
KIFC21Jul 3, 2019
KLHL151Jan 23, 2023
KLHL71Apr 1, 2022
KMT2A6Jan 11, 2024
KMT2C1Jan 23, 2023
KMT2D3Jan 11, 2024
KMT5B1Jan 11, 2024
LAGE31Jul 14, 2023
LAMA21Apr 6, 2018
LDB31Apr 10, 2017
LHX41Jul 14, 2023
LINS11Jan 11, 2024
LMNA2Jan 22, 2018
LOC1027235661Jan 11, 2024
LOC1027240582Jan 5, 2021
LOC1053727913Jul 3, 2019
LOC1067808002Jul 14, 2023
LOC1082811771Jan 23, 2023
LOC1101212692Apr 4, 2019
LOC1140227061Jan 23, 2023
LOC1148034701Jul 14, 2023
LOC1211753501Jul 3, 2019
LOC1268060685Apr 1, 2022
LOC1268064261Apr 6, 2018
LOC1268064981Apr 1, 2022
LOC1268066581Oct 1, 2020
LOC1268066592Sep 28, 2018
LOC1268071371Jul 2, 2018
LOC1268597121Jul 14, 2023
LOC1268613561Apr 4, 2019
LOC1268618311Jan 23, 2023
LOC1268618971Jul 14, 2023
LOC1268625261Apr 1, 2022
LOC1268632391Jan 23, 2023
LOC1268632621Dec 30, 2021
LOC1299928131Jan 11, 2024
LOC1299967831Jul 14, 2023
LOC1300030791Jan 23, 2023
LOXHD11Jul 3, 2017
LRRK21Jul 14, 2023
LZTFL11Jul 14, 2023
LZTR15Jan 23, 2023
MAN1B11Jan 23, 2023
MAN2B11Jan 23, 2023
MANBA1Jan 23, 2023
MAPT1Jul 14, 2023
MBD51Jul 2, 2018
MEA11Jul 8, 2021
MECP24Mar 15, 2024
MED121Apr 1, 2021
MED133Sep 12, 2023
MED13L4Sep 12, 2023
MEF2C1Jul 8, 2021
MEIS21Jan 23, 2023
MEN12Jan 23, 2023
MERTK2Dec 30, 2021
METTL51Jan 23, 2023
MFF-DT12Jan 11, 2024
MFN22Jan 11, 2024
MHRT1Jul 14, 2023
MITF1Dec 30, 2021
MLH11Jul 8, 2021
MME1Oct 8, 2019
MPDZ1Jul 14, 2023
MPZ2Jan 11, 2024
MRAS1Jul 2, 2018
MRPS342Apr 1, 2022
MSH62Jan 11, 2024
MTMR21Jan 23, 2023
MYBPC33Apr 4, 2019
MYCBP21Sep 14, 2023
MYH142Jan 23, 2023
MYH32Dec 30, 2021
MYH62Jul 3, 2019
MYH73Jul 14, 2023
MYH91Jan 11, 2024
MYL21Dec 22, 2016
MYO15A4Jan 11, 2024
MYO161Dec 19, 2018
MYO61Jan 5, 2021
MYRF1Apr 1, 2022
MYT1L1Apr 1, 2022
NAA153Jan 23, 2023
NALCN2Jan 23, 2023
NDUFAF52Sep 12, 2023
NDUFB71Jul 14, 2023
NEFL1Jan 23, 2023
NFIB1Jul 14, 2023
NFIX2Jan 11, 2024
NIPAL4-DT1Apr 1, 2022
NIPBL3Mar 15, 2024
NKX2-11Apr 4, 2019
NKX2-51Jul 14, 2023
NLGN4X1Dec 30, 2021
NOTCH21Oct 8, 2019
NOTCH31Apr 17, 2020
NPHP3-ACAD111Jul 14, 2023
NPRL21Dec 19, 2018
NPRL32Oct 1, 2020
NR2E31Dec 30, 2021
NR2F11Jan 23, 2023
NR2F1-AS11Jan 23, 2023
NR4A23Jul 14, 2023
NRXN13Apr 4, 2019
NSD15Sep 12, 2023
NTHL11Jul 8, 2021
OFD12Oct 1, 2021
OGT1Jan 23, 2023
OSBPL21Apr 1, 2021
OTC1Jan 11, 2024
OTOA1Oct 8, 2019
OTOG2Oct 1, 2021
OXTR1Mar 6, 2020
P2RX21Sep 12, 2023
PALB21Jan 11, 2024
PAN21Sep 14, 2023
PAX21Jan 11, 2024
PBX11Sep 28, 2018
PCDH193Jul 3, 2019
PDE2A1Dec 30, 2021
PDE6B1Jan 11, 2024
PDZD71Jul 2, 2018
PGK11Jul 14, 2023
PHF21A2Jan 23, 2023
PHIP1Jan 23, 2023
PHKA21Mar 15, 2024
PIGG1Sep 28, 2018
PIK3R21Dec 19, 2018
PITX11Jul 14, 2023
PKD159Mar 15, 2024
PKD1-AS16Jan 11, 2024
PKD26Jan 11, 2024
PKHD13Apr 1, 2021
PLCE11Jan 11, 2024
PMPCA1Oct 1, 2021
PMS21Jul 8, 2021
POLG1Jan 23, 2023
POLGARF1Jan 23, 2023
POLR2F1Jul 14, 2023
PORCN1Oct 1, 2021
POU3F41Jul 2, 2018
PPM1D1Dec 19, 2018
PPP2R5D1Jul 8, 2021
PQBP11Apr 4, 2019
PRICKLE21Jul 14, 2023
PRKCG1Apr 1, 2022
PRKCSH1Apr 1, 2021
PROC15Jan 11, 2024
PROS113Jan 11, 2024
PSEN11Jul 3, 2019
PSMD121Jan 23, 2023
PTCHD11Apr 10, 2017
PTEN1Jul 2, 2018
PTPN111Sep 12, 2023
PUF601Apr 6, 2018
PURA1Jul 2, 2018
RAI11Dec 30, 2021
RASA11Jan 23, 2023
RBBP81Jan 23, 2023
RBL21Jan 11, 2024
RBM203Apr 1, 2022
RELN1Jul 2, 2018
RPGR1Jan 11, 2024
RPGRIP1L1Jan 23, 2023
RPL36A-HNRNPH21Jan 11, 2024
RSPH4A1Dec 30, 2021
RSRC11Mar 15, 2024
RYR12Jan 23, 2023
RYR234Apr 1, 2022
SATB21Jul 14, 2023
SCN10A3Sep 28, 2018
SCN1A3Jan 5, 2021
SCN1B1Jan 23, 2023
SCN2A5Sep 12, 2023
SCN4A1Jan 22, 2018
SCN4B3Jul 3, 2019
SCN5A53Jan 23, 2023
SCN8A9Jul 14, 2023
SEC631Apr 1, 2021
SERPINC19Jan 11, 2024
SETBP11Dec 30, 2021
SETD1B1Jan 11, 2024
SETD22Jul 14, 2023
SETD57Jul 14, 2023
SETX2Jul 14, 2023
SFTA31Apr 4, 2019
SFTPC1Apr 17, 2020
SH2B11Apr 1, 2022
SHANK23Jul 14, 2023
SHANK32Mar 15, 2024
SHH1Sep 12, 2023
SHROOM41Dec 30, 2021
SLC12A21Sep 12, 2023
SLC12A33Dec 30, 2021
SLC1A21Oct 1, 2020
SLC2A12Jul 14, 2023
SLC35A22Mar 15, 2024
SLC4A11Apr 6, 2018
SLC6A12Jan 23, 2023
SLC6A1-AS12Jan 23, 2023
SMAD91Dec 30, 2021
SMARCA21Jan 23, 2023
SMARCC23Jul 14, 2023
SNHG143Mar 15, 2024
SNTA14Jul 2, 2018
SON1Jan 23, 2023
SOS22Jan 22, 2018
SOX101Jul 14, 2023
SOX111Jan 11, 2024
SOX172Jan 11, 2024
SOX21Jan 23, 2023
SOX2-OT1Jan 23, 2023
SOX51Oct 1, 2020
SPAST1Jan 23, 2023
SPTAN12Apr 4, 2019
SRCAP2Jul 14, 2023
SRRM21Mar 15, 2024
SSUH21Apr 4, 2019
STAG11Jan 5, 2021
STAG21Jan 11, 2024
STRC3Jul 1, 2020
STXBP12Mar 15, 2024
SUCLA21Jan 23, 2023
SYN11Oct 8, 2019
SYNE11Jan 22, 2018
SYNGAP11Mar 6, 2020
TAFAZZIN1Dec 22, 2016
TAPBPL1Sep 12, 2023
TBCEL-TECTA1Oct 8, 2019
TBL1XR11Dec 30, 2021
TBR12Jan 11, 2024
TBX43Jan 23, 2023
TCF121Jul 3, 2019
TCF43Jan 23, 2023
TECTA1Oct 8, 2019
TET32Mar 15, 2024
TGFBR21Jan 11, 2024
TMEM2602Jan 23, 2023
TMEM671Apr 17, 2020
TMEM942Jul 14, 2023
TMPRSS31Jul 1, 2020
TP632Jul 14, 2023
TRIO2Dec 30, 2021
TRIP122Sep 12, 2023
TRPC62Jan 11, 2024
TRPM43Jul 3, 2019
TRRAP2Jul 14, 2023
TSEN22Jul 14, 2023
TTC36-AS11Jan 23, 2023
TTN13Jan 23, 2023
TTN-AS110Jan 23, 2023
TUBA1A1Jan 23, 2023
TUBB2A1Oct 1, 2020
UBA51Jul 14, 2023
UBE3A3Mar 15, 2024
UPF3B1Jan 23, 2023
USH2A5Jul 14, 2023
USH2A-AS22Jan 23, 2023
USP9X1Jul 14, 2023
VAMP11Sep 12, 2023
VWF5Jul 14, 2023
WAC1Jul 14, 2023
WDR451Oct 1, 2021
WNK11Jul 3, 2017
XYLT21Mar 15, 2024
YWHAZ1Mar 15, 2024
ZBTB181Jan 5, 2021
ZDHHC241Apr 17, 2020
ZEB23Jul 1, 2020
ZIC31Nov 17, 2016
ZMYM21Sep 12, 2023
ZMYND111Dec 30, 2021
ZNF2922Sep 12, 2023
ZNF4621Jan 23, 2023
ZNF7111Dec 30, 2021
ZNF811Jan 23, 2023

Condition

NameSubmissionsLast Updated
8q24.3 microdeletion syndrome1Apr 6, 2018
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder4Jul 14, 2023
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome1Jul 3, 2019
Aarskog syndrome2Apr 1, 2022
Adrenoleukodystrophy1Jul 14, 2023
Agenesis of corpus callosum, cardiac, ocular, and genital syndrome1Jan 11, 2024
Alagille syndrome due to a JAG1 point mutation2Jul 14, 2023
Alagille syndrome due to a NOTCH2 point mutation1Oct 8, 2019
Alpha thalassemia-X-linked intellectual disability syndrome3Mar 15, 2024
Alport syndrome1Apr 10, 2017
Alveolar capillary dysplasia with pulmonary venous misalignment1Jul 2, 2018
Alzheimer disease 31Jul 3, 2019
Amyotrophic lateral sclerosis type 42Jul 14, 2023
Andersen Tawil syndrome11Apr 1, 2022
Angelman syndrome3Mar 15, 2024
Anophthalmia/microphthalmia-esophageal atresia syndrome1Jan 23, 2023
Arrhythmogenic right ventricular dysplasia 101Jul 14, 2023
Arrhythmogenic right ventricular dysplasia 81Oct 6, 2017
Arthrogryposis, distal, type 2B31Dec 30, 2021
Asphyxiating thoracic dystrophy 32Jul 3, 2019
Atrial septal defect 31Jul 3, 2019
Autism5Dec 30, 2021
Autism spectrum disorder due to AUTS2 deficiency4Jan 23, 2023
Autism, susceptibility to, 173Jul 14, 2023
Autism, susceptibility to, 52Jan 11, 2024
Autism, susceptibility to, X-linked 21Dec 30, 2021
Autism, susceptibility to, X-linked 41Apr 10, 2017
Autosomal dominant Alport syndrome6Jan 11, 2024
Autosomal dominant Parkinson disease 81Jul 14, 2023
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome1Sep 28, 2018
Autosomal dominant non-syndromic intellectual disability1Jul 14, 2023
Autosomal dominant nonsyndromic hearing loss 132Jul 1, 2020
Autosomal dominant nonsyndromic hearing loss 2A1Oct 1, 2020
Autosomal dominant nonsyndromic hearing loss 3A1Apr 6, 2018
Autosomal dominant nonsyndromic hearing loss 411Sep 12, 2023
Autosomal dominant nonsyndromic hearing loss 671Apr 1, 2021
Autosomal dominant slowed nerve conduction velocity1Oct 8, 2019
Autosomal recessive Alport syndrome4Jan 11, 2024
Autosomal recessive ataxia, Beauce type1Jan 22, 2018
Autosomal recessive nonsyndromic hearing loss 123Apr 1, 2022
Autosomal recessive nonsyndromic hearing loss 162Jul 1, 2020
Autosomal recessive nonsyndromic hearing loss 18B1Oct 1, 2020
Autosomal recessive nonsyndromic hearing loss 34Jan 11, 2024
Autosomal recessive nonsyndromic hearing loss 531Jul 1, 2020
Autosomal recessive nonsyndromic hearing loss 81Jul 1, 2020
Autosomal recessive polycystic kidney disease2Oct 8, 2019
Autosomal recessive spinocerebellar ataxia 101Jul 14, 2023
Baraitser-Winter syndrome 12Jan 22, 2018
Bardet-Biedl syndrome 11Apr 17, 2020
Bardet-Biedl syndrome 171Jul 14, 2023
Beck-Fahrner syndrome1Mar 15, 2024
Benign familial hematuria4Oct 1, 2021
Beta-D-mannosidosis1Jan 23, 2023
Bethlem myopathy 21Jul 14, 2023
Birt-Hogg-Dube syndrome1Jul 8, 2021
Blepharophimosis - intellectual disability syndrome, SBBYS type1Jan 23, 2023
Blepharophimosis-impaired intellectual development syndrome1Jan 23, 2023
Bosch-Boonstra-Schaaf optic atrophy syndrome1Jan 23, 2023
Brain small vessel disease 1 with or without ocular anomalies2Mar 15, 2024
Brain-lung-thyroid syndrome1Apr 4, 2019
Breast-ovarian cancer, familial, susceptibility to, 12Jan 11, 2024
Breast-ovarian cancer, familial, susceptibility to, 51Jan 11, 2024
Brugada syndrome6Jul 3, 2019
Brugada syndrome 128Apr 1, 2022
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
Brunet-Wagner neurodevelopmental syndrome1Jan 11, 2024
Bryant-Li-Bhoj neurodevelopmental syndrome 21Jul 14, 2023
CBL-related disorder2Jul 14, 2023
CDK8-kinase module-associated disorder1Sep 28, 2018
CHARGE syndrome2Sep 28, 2018
Capillary malformation-arteriovenous malformation 11Jan 23, 2023
Cardiac anomalies - developmental delay - facial dysmorphism syndrome4Sep 12, 2023
Cardiac arrhythmia, ankyrin-B-related1Jul 2, 2018
Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies1Jan 23, 2023
Cardiac valvular dysplasia, X-linked1Jan 23, 2023
Cardiac-urogenital syndrome1Apr 1, 2022
Cardiomyopathy, familial hypertrophic 271Jul 14, 2023
Catecholaminergic polymorphic ventricular tachycardia 133Apr 1, 2022
Catecholaminergic polymorphic ventricular tachycardia 23Apr 10, 2017
Caused by mutation in the tafazzin gene1Dec 22, 2016
Central core myopathy1Oct 6, 2017
Cerebellar ataxia7Dec 30, 2021
Cerebellar dysfunction with variable cognitive and behavioral abnormalities1Jan 23, 2023
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 11Apr 17, 2020
Charcot-Marie-Tooth disease axonal type 2T1Oct 8, 2019
Charcot-Marie-Tooth disease axonal type 2U1Jan 23, 2023
Charcot-Marie-Tooth disease dominant intermediate B1Jan 23, 2023
Charcot-Marie-Tooth disease dominant intermediate D1Jan 11, 2024
Charcot-Marie-Tooth disease type 2A22Jan 11, 2024
Charcot-Marie-Tooth disease type 2D1Oct 8, 2019
Charcot-Marie-Tooth disease type 2E1Jan 23, 2023
Charcot-Marie-Tooth disease type 2J1Sep 12, 2023
Charcot-Marie-Tooth disease type 4B11Jan 23, 2023
Childhood onset GLUT1 deficiency syndrome 21Jul 14, 2023
Choroideremia2Dec 30, 2021
Chromosome 2q32-q33 deletion syndrome1Jul 14, 2023
Clark-Baraitser syndrome2Sep 12, 2023
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency2Jul 14, 2023
Clubfoot1Jul 14, 2023
Coffin-Siris syndrome 13Apr 1, 2022
Coffin-Siris syndrome 83Jul 14, 2023
Cognitive impairment with or without cerebellar ataxia7Jul 14, 2023
Cohen-Gibson syndrome1Oct 1, 2020
Colorectal cancer, hereditary nonpolyposis, type 21Jul 8, 2021
Combined oxidative phosphorylation deficiency 322Apr 1, 2022
Complex cortical dysplasia with other brain malformations 51Oct 1, 2020
Complex neurodevelopmental disorder3Sep 12, 2023
Congenital anomalies of kidney and urinary tract 11Oct 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 contractural arachnodactyly1Jan 23, 2023
Congenital contractures of the limbs and face, hypotonia, and developmental delay1Apr 6, 2018
Congenital factor V deficiency1Jan 11, 2024
Congenital factor VII deficiency4Apr 1, 2022
Congenital myotonia, autosomal dominant form1Oct 8, 2019
Congenital myotonia, autosomal recessive form1Oct 1, 2021
Congenital prothrombin deficiency1Jan 11, 2024
Cornelia de Lange syndrome 13Mar 15, 2024
Cornelia de Lange syndrome 52Mar 6, 2020
Coxopodopatellar syndrome2Jan 23, 2023
Cutis laxa, autosomal dominant 31Jul 14, 2023
Cystic fibrosis2Apr 4, 2019
D-2-hydroxyglutaric aciduria 11Jul 14, 2023
DYRK1A-related intellectual disability syndrome1Jul 3, 2019
De Lange syndrome2Jan 23, 2023
DeSanto-Shinawi syndrome due to WAC point mutation1Jul 14, 2023
Deafness1Jul 3, 2017
Deficiency of 2-methylbutyryl-CoA dehydrogenase1Jan 23, 2023
Deficiency of alpha-mannosidase1Jan 23, 2023
Delpire-McNeill syndrome1Sep 12, 2023
Developmental and epileptic encephalopathy 943Jan 11, 2024
Developmental and epileptic encephalopathy 991Apr 1, 2022
Developmental and epileptic encephalopathy, 114Oct 1, 2020
Developmental and epileptic encephalopathy, 132Apr 1, 2021
Developmental and epileptic encephalopathy, 272Jul 8, 2021
Developmental and epileptic encephalopathy, 292Jul 14, 2023
Developmental and epileptic encephalopathy, 312Jul 14, 2023
Developmental and epileptic encephalopathy, 42Mar 15, 2024
Developmental and epileptic encephalopathy, 411Oct 1, 2020
Developmental and epileptic encephalopathy, 423Jan 11, 2024
Developmental and epileptic encephalopathy, 441Jul 14, 2023
Developmental and epileptic encephalopathy, 52Apr 4, 2019
Developmental and epileptic encephalopathy, 651Apr 1, 2022
Developmental and epileptic encephalopathy, 75Jan 23, 2023
Developmental and epileptic encephalopathy, 93Jul 3, 2019
Developmental delay with autism spectrum disorder and gait instability2Dec 30, 2021
Developmental delay with or without dysmorphic facies and autism2Jul 14, 2023
Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities2Jul 14, 2023
Diabetes insipidus, nephrogenic, X-linked2Jan 11, 2024
Dihydropyrimidine dehydrogenase deficiency1Jul 14, 2023
Dilated cardiomyopathy 1A2Jan 22, 2018
Dilated cardiomyopathy 1AA2Jul 14, 2023
Dilated cardiomyopathy 1DD3Apr 1, 2022
Dilated cardiomyopathy 1G13Jan 23, 2023
Dilated cardiomyopathy 1HH2Oct 8, 2019
Dilated cardiomyopathy 1I1Jul 14, 2023
Dilated cardiomyopathy 1S1Jul 14, 2023
Distal arthrogryposis1Jan 5, 2021
Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 31Jul 14, 2023
Ehlers-Danlos syndrome, periodontal type 21Jul 14, 2023
Encephalopathy due to GLUT1 deficiency1Sep 28, 2018
Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders1Oct 8, 2019
Epilepsy, childhood absence, susceptibility to, 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, idiopathic generalized, susceptibility to, 111Sep 28, 2018
Epilepsy, idiopathic generalized, susceptibility to, 131Jul 14, 2023
Episodic ataxia type 11Apr 10, 2017
Episodic ataxia type 25Jan 11, 2024
FG syndrome 41Dec 30, 2021
FRAXE1Jul 14, 2023
Fabry disease1Jan 11, 2024
Factor XIII, A subunit, deficiency of1Jan 11, 2024
Familial adenomatous polyposis 13Jan 11, 2024
Familial adenomatous polyposis 31Jul 8, 2021
Familial hypocalciuric hypercalcemia 11Jul 14, 2023
Familial hypokalemia-hypomagnesemia3Dec 30, 2021
Familial temporal lobe epilepsy 71Jul 2, 2018
Febrile seizures, familial, 43Sep 28, 2018
Focal dermal hypoplasia1Oct 1, 2021
Focal segmental glomerulosclerosis1Dec 30, 2021
Focal segmental glomerulosclerosis 22Jan 11, 2024
Focal segmental glomerulosclerosis 71Jan 11, 2024
Frontotemporal dementia1Jul 14, 2023
Galloway-Mowat syndrome 2, X-linked1Jul 14, 2023
Generalized epilepsy with febrile seizures plus, type 11Jan 23, 2023
Generalized epilepsy with febrile seizures plus, type 21Dec 19, 2018
Gillespie syndrome2Mar 15, 2024
Global developmental delay2Apr 1, 2022
Global developmental delay with or without impaired intellectual development1Jan 23, 2023
Glomerulopathy with fibronectin deposits 21Apr 1, 2022
Glutaric aciduria, type 11Jan 23, 2023
Glycogen storage disease IXa11Mar 15, 2024
Glycogen storage disease due to phosphoglycerate kinase 1 deficiency1Jul 14, 2023
Greig cephalopolysyndactyly syndrome1Apr 17, 2020
Growth delay due to insulin-like growth factor I resistance1Apr 1, 2022
Hearing impairment9Apr 1, 2022
Hereditary antithrombin deficiency9Jan 11, 2024
Hereditary factor IX deficiency disease4Jan 11, 2024
Hereditary factor VIII deficiency disease6Jan 11, 2024
Hereditary spastic paraplegia 261Mar 15, 2024
Hereditary spastic paraplegia 301Oct 1, 2020
Hereditary spastic paraplegia 41Jan 23, 2023
Hereditary spherocytosis type 21Apr 6, 2018
Hereditary spherocytosis type 41Apr 6, 2018
Heterotaxy, visceral, 1, X-linked1Nov 17, 2016
Hogue-Janssens syndrome 11Jul 8, 2021
Holoprosencephaly 31Sep 12, 2023
Holoprosencephaly 91Sep 12, 2023
Hydrocephalus, nonsyndromic, autosomal recessive 21Jul 14, 2023
Hypercalcemia, infantile, 11Jul 14, 2023
Hyperparathyroidism 42Jan 23, 2023
Hyperphosphatasia with intellectual disability syndrome 41Jan 23, 2023
Hypertrophic cardiomyopathy 12Jul 2, 2018
Hypertrophic cardiomyopathy 101Dec 22, 2016
Hypertrophic cardiomyopathy 142Jan 22, 2018
Hypertrophic cardiomyopathy 261Jul 14, 2023
Hypertrophic cardiomyopathy 43Apr 4, 2019
Hypogonadotropic hypogonadism 2 with or without anosmia1Mar 15, 2024
Hypokalemic periodic paralysis, type 11Jul 14, 2023
Hypotonia1Dec 30, 2021
Hypotonia, ataxia, and delayed development syndrome1Jul 2, 2018
Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome1Mar 15, 2024
Hypotonia, infantile, with psychomotor retardation and characteristic facies 11Jan 23, 2023
Intellectual developmental disorder 612Sep 12, 2023
Intellectual developmental disorder with autism and macrocephaly5Jan 11, 2024
Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures2Jan 23, 2023
Intellectual developmental disorder with cardiac defects and dysmorphic facies2Jul 14, 2023
Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities1Jan 11, 2024
Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold1Dec 19, 2018
Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism1Jul 14, 2023
Intellectual developmental disorder with paroxysmal dyskinesia or seizures1Dec 30, 2021
Intellectual developmental disorder with seizures and language delay1Jan 11, 2024
Intellectual developmental disorder with speech delay, autism, and dysmorphic facies1Mar 15, 2024
Intellectual developmental disorder, autosomal dominant 642Sep 12, 2023
Intellectual developmental disorder, autosomal dominant 651Jan 23, 2023
Intellectual developmental disorder, autosomal dominant 721Mar 15, 2024
Intellectual developmental disorder, autosomal recessive 701Mar 15, 2024
Intellectual developmental disorder, autosomal recessive 712Apr 1, 2022
Intellectual developmental disorder, autosomal recessive 721Jan 23, 2023
Intellectual disability6Apr 1, 2021
Intellectual disability and myopathy syndrome1Jan 23, 2023
Intellectual disability, FRA12A type1Dec 30, 2021
Intellectual disability, X-linked 11Oct 1, 2020
Intellectual disability, X-linked 1001Jul 14, 2023
Intellectual disability, X-linked 1026Mar 15, 2024
Intellectual disability, X-linked 1031Jan 23, 2023
Intellectual disability, X-linked 1061Jan 23, 2023
Intellectual disability, X-linked 631Jan 23, 2023
Intellectual disability, X-linked 91Apr 10, 2017
Intellectual disability, X-linked 932Jan 11, 2024
Intellectual disability, X-linked 971Dec 30, 2021
Intellectual disability, X-linked 991Jul 14, 2023
Intellectual disability, X-linked syndromic, Turner type1Dec 30, 2021
Intellectual disability, autosomal dominant 11Jul 2, 2018
Intellectual disability, autosomal dominant 134Jan 11, 2024
Intellectual disability, autosomal dominant 201Jul 8, 2021
Intellectual disability, autosomal dominant 221Jan 5, 2021
Intellectual disability, autosomal dominant 241Apr 10, 2017
Intellectual disability, autosomal dominant 271Jan 11, 2024
Intellectual disability, autosomal dominant 291Dec 30, 2021
Intellectual disability, autosomal dominant 301Dec 30, 2021
Intellectual disability, autosomal dominant 331Jan 23, 2023
Intellectual disability, autosomal dominant 391Apr 1, 2022
Intellectual disability, autosomal dominant 411Dec 30, 2021
Intellectual disability, autosomal dominant 432Jan 23, 2023
Intellectual disability, autosomal dominant 461Oct 1, 2020
Intellectual disability, autosomal dominant 471Jan 5, 2021
Intellectual disability, autosomal dominant 51Mar 6, 2020
Intellectual disability, autosomal dominant 502Jan 23, 2023
Intellectual disability, autosomal dominant 511Jan 11, 2024
Intellectual disability, autosomal dominant 521Jan 11, 2024
Intellectual disability, autosomal dominant 563Jul 14, 2023
Intellectual disability, autosomal dominant 64Apr 1, 2022
Intellectual disability, autosomal dominant 92Jul 3, 2019
Intellectual disability, autosomal recessive 271Jan 11, 2024
Intellectual disability, autosomal recessive 531Sep 28, 2018
Intellectual disability, autosomal recessive 582Jul 14, 2023
Intellectual disability, autosomal recessive 651Jan 23, 2023
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency6Jul 14, 2023
Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome1Jul 14, 2023
Intellectual disability-hypotonic facies syndrome, X-linked, 11Jan 23, 2023
Intellectual disability-severe speech delay-mild dysmorphism syndrome3Jul 14, 2023
Interstitial lung disease due to ABCA3 deficiency6Apr 1, 2022
Joubert syndrome 101Oct 1, 2021
Joubert syndrome 172Apr 1, 2022
Joubert syndrome 51Jul 3, 2017
Joubert syndrome 71Jan 23, 2023
Joubert syndrome 92Jan 23, 2023
KBG syndrome5Jan 23, 2023
KCNH1-related phenotype1Jul 2, 2018
Kabuki syndrome 13Jan 11, 2024
Kabuki syndrome 22Jan 23, 2023
Kleefstra syndrome 13Jul 14, 2023
Kleefstra syndrome 21Jan 23, 2023
Lacrimoauriculodentodigital syndrome 21Jul 14, 2023
Lamb-Shaffer syndrome1Oct 1, 2020
Landau-Kleffner syndrome2Jan 23, 2023
Larsen syndrome1Jul 14, 2023
Lessel-Kreienkamp syndrome1Jan 23, 2023
Lethal congenital contracture syndrome 21Jan 23, 2023
Lissencephaly due to TUBA1A mutation1Jan 23, 2023
Loeys-Dietz syndrome 21Jan 11, 2024
Long QT syndrome1Dec 22, 2016
Long QT syndrome 152Feb 19, 2024
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 250Apr 1, 2022
Long QT syndrome 326Jan 23, 2023
Long QT syndrome 54Apr 1, 2022
Long QT syndrome 63Jul 3, 2019
Long QT syndrome 92Mar 6, 2020
Long qt syndrome 81Oct 1, 2020
Lung cancer1Jul 14, 2023
Luscan-Lumish syndrome2Jul 14, 2023
Lynch syndrome 41Jul 8, 2021
Lynch syndrome 52Jan 11, 2024
MYO16-associated developmental delay1Dec 19, 2018
Macrocephaly, acquired, with impaired intellectual development1Jul 14, 2023
Macrocephaly, dysmorphic facies, and psychomotor retardation2Jan 23, 2023
Macrocephaly-autism syndrome1Jul 2, 2018
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss1Jan 11, 2024
Malan overgrowth syndrome1Jan 23, 2023
Malignant hyperthermia, susceptibility to, 11Jan 23, 2023
Marfan syndrome1Jan 23, 2023
Marshall syndrome1Jan 22, 2018
Marshall-Smith syndrome1Jan 11, 2024
Maturity-onset diabetes of the young type 111Sep 12, 2023
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
Merosin deficient congenital muscular dystrophy1Apr 6, 2018
Methylmalonic acidemia with homocystinuria, type cblX1Dec 30, 2021
Microcephaly1Apr 4, 2019
Microcephaly 3, primary, autosomal recessive1Oct 6, 2017
Microcephaly 5, primary, autosomal recessive1Jan 5, 2021
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability1Mar 15, 2024
Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome2Dec 30, 2021
Migraine, familial hemiplegic, 21Dec 19, 2018
Mirror movements 11Jan 23, 2023
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria1Jan 23, 2023
Mitochondrial complex 1 deficiency, nuclear type 162Sep 12, 2023
Mitochondrial complex I deficiency, nuclear type 391Jul 14, 2023
Mowat-Wilson syndrome3Jul 1, 2020
Mullegama-Klein-Martinez syndrome1Jan 11, 2024
Multiple endocrine neoplasia, type 12Jan 23, 2023
Muscular dystrophy, limb-girdle, autosomal dominant 41Jan 23, 2023
Muscular dystrophy, limb-girdle, autosomal recessive 272Apr 1, 2022
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 71Apr 6, 2018
Myasthenic syndrome, congenital, 25, presynaptic1Sep 12, 2023
Myoclonic-astatic epilepsy2Jan 23, 2023
Myopathy due to calsequestrin and SERCA1 protein overload1Dec 30, 2021
Neonatal-onset encephalopathy with rigidity and seizures1Sep 28, 2018
Nephrotic syndrome, type 31Jan 11, 2024
Neurodegeneration with brain iron accumulation 51Oct 1, 2021
Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities1Sep 12, 2023
Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures1Jan 23, 2023
Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia1Jul 14, 2023
Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures1Jan 23, 2023
Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities2Sep 12, 2023
Neuronopathy, distal hereditary motor, type 2D1Jan 23, 2023
Neuronopathy, distal hereditary motor, type 5A1Jan 23, 2023
Neuropathy, hereditary motor and sensory, type 6A1Jan 11, 2024
Neuropathy, hereditary sensory and autonomic, type 2A1Jul 3, 2017
Non-syndromic X-linked intellectual disability1Jan 23, 2023
Noonan syndrome 11Sep 12, 2023
Noonan syndrome 103Jan 23, 2023
Noonan syndrome 21Jan 23, 2023
Noonan syndrome 92Jan 22, 2018
Noonan-like disorder1Mar 15, 2024
Oculodentodigital dysplasia1Dec 30, 2021
Oculofaciocardiodental syndrome1Jan 23, 2023
Okur-Chung neurodevelopmental syndrome2Jan 23, 2023
Ornithine carbamoyltransferase deficiency2Jan 11, 2024
Orofaciodigital syndrome I1Apr 6, 2018
Osteogenesis imperfecta type I2May 21, 2024
Osteogenesis imperfecta type III4Jul 14, 2023
Osteogenesis imperfecta, perinatal lethal1Jan 22, 2018
Osteoporosis, childhood- or juvenile-onset, with developmental delay1Jul 14, 2023
PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome1Jan 23, 2023
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome1Jul 2, 2018
Palmoplantar keratoderma i, striate, focal, or diffuse1Mar 15, 2024
Pancreatic hypoplasia-diabetes-congenital heart disease syndrome1Jul 14, 2023
Paramyotonia congenita of Von Eulenburg1Jan 22, 2018
Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome2Jan 23, 2023
Phelan-McDermid syndrome2Mar 15, 2024
Pitt-Hopkins syndrome3Jan 23, 2023
Pitt-Hopkins-like syndrome 22Apr 6, 2018
Platelet-type bleeding disorder 101Sep 12, 2023
Polycystic kidney disease 26Jan 11, 2024
Polycystic kidney disease 41Apr 1, 2021
Polycystic kidney disease, adult type59Mar 15, 2024
Polycystic liver disease 11Apr 1, 2021
Polycystic liver disease 21Apr 1, 2021
Polycystic liver disease 3 with or without kidney cysts1Jan 11, 2024
Pontocerebellar hypoplasia type 2B2Jul 14, 2023
Porencephaly 23Sep 12, 2023
Primary ciliary dyskinesia 101Jan 11, 2024
Primary ciliary dyskinesia 111Dec 30, 2021
Primary ciliary dyskinesia 72Apr 1, 2021
Primary hyperoxaluria, type I1Dec 30, 2021
Prolonged QT interval2Apr 17, 2020
Pulmonary arterial hypertension1Apr 1, 2022
Pulmonary hypertension, primary, 12Dec 30, 2021
Pulmonary hypertension, primary, 21Dec 30, 2021
RASopathy2Jul 2, 2018
Rafiq syndrome1Jan 23, 2023
Renal cysts and diabetes syndrome1Jan 23, 2023
Renal dysplasia, cystic, susceptibility to1Apr 1, 2021
Renal tubular dysgenesis of genetic origin2Dec 30, 2021
Retinitis pigmentosa 251Jul 3, 2019
Retinitis pigmentosa 31Jan 11, 2024
Retinitis pigmentosa 371Dec 30, 2021
Retinitis pigmentosa 382Dec 30, 2021
Retinitis pigmentosa 391Jul 14, 2023
Retinitis pigmentosa 401Jan 11, 2024
Retinitis pigmentosa 421Apr 1, 2022
Rett syndrome2Jul 1, 2020
Rett syndrome, congenital variant1Oct 1, 2020
Rubinstein-Taybi syndrome due to CREBBP mutations8Jan 11, 2024
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency2Jan 5, 2021
SLC35A2-congenital disorder of glycosylation2Mar 15, 2024
Saldino-Mainzer syndrome1Oct 1, 2021
Schwartz-Jampel syndrome type 11Jul 14, 2023
Seckel syndrome 21Jan 23, 2023
See cases3Sep 14, 2023
Seizure1Dec 30, 2021
Seizures, benign familial neonatal, 11Jan 22, 2018
Sensorineural hearing loss disorder1Jan 23, 2023
Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency1Apr 1, 2022
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome3Jul 14, 2023
Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome2Apr 4, 2019
Severe intellectual disability-progressive spastic diplegia syndrome3Oct 1, 2020
Severe myoclonic epilepsy in infancy2Jan 5, 2021
Severe neonatal-onset encephalopathy with microcephaly1Mar 15, 2024
Shashi-Pena syndrome1Jan 23, 2023
Short QT syndrome2Jul 3, 2019
Short QT syndrome type 21Sep 28, 2018
Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans1Jan 23, 2023
Short stature-pituitary and cerebellar defects-small sella turcica syndrome1Jul 14, 2023
Short-rib thoracic dysplasia 11 with or without polydactyly1Mar 6, 2020
Simpson-Golabi-Behmel syndrome type 21Oct 1, 2021
Smith-Magenis syndrome1Dec 30, 2021
Snijders Blok-Campeau syndrome1Jan 23, 2023
Sotos syndrome5Sep 12, 2023
Spinocerebellar ataxia 27A1Mar 15, 2024
Spinocerebellar ataxia type 141Apr 1, 2022
Spondylo-ocular syndrome1Mar 15, 2024
Stankiewicz-Isidor syndrome1Jan 23, 2023
Stickler syndrome type 11Jan 22, 2018
Structural heart defects and renal anomalies syndrome2Jan 23, 2023
Succinate-semialdehyde dehydrogenase deficiency1Jan 23, 2023
Surfactant metabolism dysfunction, pulmonary, 11Apr 17, 2020
Surfactant metabolism dysfunction, pulmonary, 41Apr 1, 2021
Surfactant metabolism dysfunction, pulmonary, 52Apr 1, 2021
Syndromic X-linked intellectual disability 141Jan 23, 2023
Syndromic X-linked intellectual disability 941Jan 23, 2023
Syndromic X-linked intellectual disability Claes-Jensen type2Apr 1, 2022
TCF12-related craniosynostosis1Jul 3, 2019
TP63-Related Spectrum Disorders1Jan 23, 2023
Tatton-Brown-Rahman overgrowth syndrome2Dec 30, 2021
Telangiectasia, hereditary hemorrhagic, type 13Jan 11, 2024
Telangiectasia, hereditary hemorrhagic, type 26Jan 11, 2024
Telangiectasia, hereditary hemorrhagic, type 51Apr 1, 2021
Tetralogy of Fallot1Jul 14, 2023
Thrombophilia due to protein C deficiency, autosomal dominant15Jan 11, 2024
Thrombophilia due to protein S deficiency, autosomal dominant13Jan 11, 2024
Thyrotoxic periodic paralysis, susceptibility to, 21Jul 3, 2017
Timothy syndrome17Mar 6, 2020
Usher syndrome type 1D1Jan 23, 2023
Usher syndrome type 2A4Oct 1, 2020
Vasculitis due to ADA2 deficiency1Mar 15, 2024
Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome1Apr 1, 2022
Vesicoureteral reflux 31Jan 11, 2024
Waardenburg syndrome type 2E1Jul 14, 2023
Weiss-kruszka syndrome1Jan 23, 2023
Wiedemann-Steiner syndrome6Jan 11, 2024
X-linked Alport syndrome11Jan 11, 2024
X-linked distal spinal muscular atrophy type 31Jan 23, 2023
X-linked intellectual disability Cabezas type1Jan 11, 2024
X-linked intellectual disability, Stocco dos Santos type1Dec 30, 2021
X-linked intellectual disability-psychosis-macroorchidism syndrome1Jan 23, 2023
X-linked mixed hearing loss with perilymphatic gusher1Jul 2, 2018
ZTTK syndrome1Jan 23, 2023
Zimmermann-Laband syndrome 21Jan 11, 2024
von Willebrand disease type 13Jul 14, 2023
von Willebrand disease type 22Dec 30, 2021