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Institute of Human Genetics (University Hospital Muenster), IHG

General information

Institute of Human Genetics, IHG
University Hospital Muenster
Vesaliusweg 12-14
Muenster
Nordrhein-Westfalen
Germany - 48149
https://www.ukm.de/index.php?id=humangenetik_start
Organization ID: 507439

Personnel

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 878

Gene

GeneSubmissionsLast Updated
ABCA32Jun 28, 2024
ABCA46Jun 28, 2024
ABCB41Feb 21, 2023
ABCC62Jun 28, 2024
ABCC81Jun 28, 2024
ABCC91Feb 21, 2023
ABHD14A-ACY12Jun 14, 2022
ACAD91Jun 28, 2024
ACADM4Jun 28, 2024
ACADVL3Jun 28, 2024
ACAN3May 22, 2023
ACP51Oct 4, 2022
ACSL41Mar 30, 2022
ACTA21Aug 16, 2022
ACTB1Jun 28, 2024
ACVRL11Jun 28, 2024
ACY12Jun 14, 2022
ADA21Jun 28, 2024
ADAMTS133Jun 28, 2024
ADCY51Feb 21, 2023
ADNP1Mar 19, 2024
AHDC11Oct 4, 2022
AHI14May 22, 2023
AKT11Jun 28, 2024
ALAS21Jun 28, 2024
ALDH5A12Mar 19, 2024
ALDH7A12Jun 28, 2024
ALG142Jun 28, 2024
ALG14-AS11Jun 28, 2024
ALPL2Jun 28, 2024
ANKRD114Jun 28, 2024
ANOS12Jun 28, 2024
AP1G11Jun 28, 2024
APOB3Jun 28, 2024
AR2Feb 21, 2023
ARCN11Feb 21, 2023
ARF31Mar 19, 2024
ARFGEF11Feb 21, 2023
ARFGEF1-DT1Oct 4, 2022
ARHGAP311May 22, 2023
ARID1B2Jun 28, 2024
ARID22Feb 21, 2023
ARX1May 22, 2023
ASH1L2May 22, 2023
ASPA1Oct 4, 2022
ASPM3Oct 4, 2022
ASS13Jun 28, 2024
ASXL32Oct 4, 2022
ATIC2Jun 28, 2024
ATL11Jun 28, 2024
ATP1A21Jun 28, 2024
ATP1A31Feb 22, 2022
ATP2B31May 22, 2023
ATP7A1Oct 4, 2022
ATP7B1Oct 4, 2022
ATRX1Oct 4, 2022
ATXN71Jun 14, 2022
AUTS22Mar 19, 2024
B3GAT31Feb 21, 2023
BAG31Mar 19, 2024
BAP11Mar 19, 2024
BCKDHB1Oct 4, 2022
BCL11B3Oct 4, 2022
BCOR1Apr 14, 2022
BCORL11Oct 4, 2022
BEST12Oct 4, 2022
BICC11Oct 4, 2022
BPTF1Mar 19, 2024
BRSK21Feb 21, 2023
BSCL21May 22, 2023
BSND1Mar 30, 2022
BTD2Apr 14, 2022
C1R1Jun 28, 2024
C1S1Oct 4, 2022
CACNA1A1Feb 21, 2023
CACNA1E2May 22, 2023
CACNA1H1Oct 4, 2022
CASR1Jun 28, 2024
CAVIN11Feb 21, 2023
CBL8Jun 28, 2024
CBS3Feb 21, 2023
CC2D2A1May 4, 2022
CCDC402Feb 21, 2023
CD362Jun 28, 2024
CDC42BPB4Mar 19, 2024
CDHR11Mar 30, 2022
CDK131Jun 14, 2022
CDK5RAP22Jun 28, 2024
CEP2901Jun 28, 2024
CFTR3Oct 4, 2022
CHAMP11Feb 21, 2023
CHD21Jun 28, 2024
CHD32Jun 28, 2024
CHD41Mar 30, 2022
CHD51May 22, 2023
CHD73Jun 28, 2024
CHD81Feb 21, 2023
CHM1Mar 30, 2022
CIC4May 22, 2023
CIT1Feb 21, 2023
CLCN61Oct 4, 2022
CLIC21Mar 30, 2022
CNOT12May 22, 2023
CNOT31Jun 28, 2024
CNTNAP11Aug 16, 2022
COL10A11Feb 21, 2023
COL11A21Oct 4, 2022
COL1A19Jun 28, 2024
COL1A24Jun 28, 2024
COL2A13May 22, 2023
COL3A14Oct 4, 2022
COL4A11Aug 16, 2022
COL4A24Jun 28, 2024
COL4A2-AS11Apr 14, 2022
COL4A41Feb 21, 2023
COL4A52Jun 28, 2024
COL5A12Jun 28, 2024
COL7A11Jun 28, 2024
COMP1Aug 16, 2022
COPA1Jun 28, 2024
COQ8B1Jun 28, 2024
CPA61Oct 4, 2022
CPAMD81Oct 4, 2022
CPLANE14Oct 4, 2022
CPT1A2Mar 30, 2022
CPT22Jun 28, 2024
CRADD1Dec 29, 2021
CREBBP2Jun 28, 2024
CRX1Jun 28, 2024
CSRP31May 22, 2023
CTCF1Feb 21, 2023
CTU22Oct 4, 2022
CUX11Mar 19, 2024
CYFIP22Jun 28, 2024
CYP21A22Jun 28, 2024
DARS21Jun 14, 2022
DDX3X1Feb 24, 2023
DEAF11Mar 19, 2024
DEPDC51May 22, 2023
DHCR72Mar 19, 2024
DHX301Feb 21, 2023
DIS3L21Mar 30, 2022
DLL12Feb 21, 2023
DMD6Jun 28, 2024
DNAH52Jun 28, 2024
DNAI12Jun 28, 2024
DNM11Oct 4, 2022
DNM21Mar 30, 2022
DNMT3A2Oct 4, 2022
DSP1Jun 28, 2024
DUOX21Jun 28, 2024
DVL11Oct 4, 2022
DYNC1H12Jun 28, 2024
EDA2Jun 28, 2024
EEF1A21Jan 8, 2022
EIF1AX1Jun 28, 2024
ELN1Jun 28, 2024
ENG2Jun 28, 2024
EP3001Oct 4, 2022
EPHB42Jun 28, 2024
EXOSC31Apr 14, 2022
F13A11Feb 21, 2023
F71Feb 21, 2023
F82Mar 19, 2024
F91Feb 22, 2022
FAH1May 22, 2023
FAM111A1Jun 28, 2024
FBN115Jun 28, 2024
FBXO111Oct 4, 2022
FECH3Jun 28, 2024
FGA4Jun 28, 2024
FGB3Jun 28, 2024
FGF231Jun 28, 2024
FGFR14Jun 28, 2024
FGFR22Feb 21, 2023
FGG1Jun 28, 2024
FH1Feb 21, 2023
FIG41Oct 4, 2022
FKRP1Mar 30, 2022
FLCN1May 22, 2023
FLNA4Jun 28, 2024
FLNC1Jun 28, 2024
FMR11Apr 14, 2022
FN12Aug 16, 2022
FOXF12Jun 28, 2024
FOXL21Jun 28, 2024
FOXP11Jun 14, 2022
FRA10AC11Feb 21, 2023
G6PD2Jun 28, 2024
GABRG21Jun 14, 2022
GALC2Mar 19, 2024
GAN1Oct 4, 2022
GAS81Oct 4, 2022
GATAD2B1Jun 14, 2022
GJB11Feb 21, 2023
GJB22May 4, 2022
GJC21Oct 4, 2022
GK2Jun 28, 2024
GLA1Jun 28, 2024
GLI21Mar 30, 2022
GNA111Feb 21, 2023
GNAS1Apr 14, 2022
GNB11Jun 28, 2024
GNB41Jun 28, 2024
GNRHR3Jun 28, 2024
GPC41Aug 16, 2022
GPHN1Jun 28, 2024
GRIA31Oct 4, 2022
GRIA43Jun 28, 2024
GRIK22Feb 21, 2023
GRIN12Oct 4, 2022
GRIN2A3Feb 21, 2023
GRIN2B1Mar 19, 2024
GRIN2D4Feb 21, 2023
GRM71Apr 14, 2022
HEXA1Jun 14, 2022
HFE1Jun 28, 2024
HFE-AS11Jun 28, 2024
HGD2Jun 28, 2024
HIVEP21Oct 4, 2022
HK12Jun 28, 2024
HNF4A1Mar 30, 2022
HNRNPDL1May 22, 2023
HNRNPU1Oct 4, 2022
HNRNPUL2-BSCL21May 22, 2023
HPS42Jun 28, 2024
HS6ST11Jun 28, 2024
HSD17B31Feb 21, 2023
HUWE11Feb 21, 2023
IDS1Jun 28, 2024
IDUA2Jun 28, 2024
IFIH14Jun 28, 2024
IL1RAPL11Feb 21, 2023
INSL61May 22, 2023
INSR2May 22, 2023
IQSEC21Oct 4, 2022
IRF2BPL1Feb 21, 2023
JAG12Jun 28, 2024
JAK21May 22, 2023
JUP1Jun 28, 2024
KANSL11Jun 14, 2022
KARS11Mar 30, 2022
KAT6A1Feb 21, 2023
KAT6B1Oct 4, 2022
KCNC11Feb 21, 2023
KCNH21Apr 14, 2022
KCNJ61May 22, 2023
KCNJ6-AS11May 22, 2023
KCNMA12Feb 21, 2023
KCNMA1-AS12Feb 21, 2023
KCNQ23Jun 28, 2024
KCNQ31Jun 28, 2024
KCNQ51Mar 30, 2022
KCNT11Jun 28, 2024
KDM1A1Oct 4, 2022
KDM3B4Feb 21, 2023
KDM4B1Feb 21, 2023
KDM5C1May 22, 2023
KDM6A2Jun 28, 2024
KDM6B1Feb 21, 2023
KIDINS2201May 22, 2023
KIF221May 22, 2023
KISS1R1Jun 28, 2024
KMT2A3Oct 4, 2022
KMT2B2Mar 19, 2024
KMT2C4Jun 28, 2024
KMT2E3May 22, 2023
KMT5B2May 22, 2023
KRAS2Oct 4, 2022
KRIT11Feb 21, 2023
LAMA11Apr 14, 2022
LDLR13Jun 28, 2024
LDLRAP11Jun 28, 2024
LHCGR1Jun 28, 2024
LIPE1Feb 21, 2023
LIPE-AS11Feb 21, 2023
LMNB21Mar 19, 2024
LOC1019300711Feb 21, 2023
LOC1027240581Feb 21, 2023
LOC1053691491Jun 14, 2022
LOC1067808002Jun 28, 2024
LOC1073033401Jun 28, 2024
LOC1118119651Oct 4, 2022
LOC1125336721Apr 14, 2022
LOC1216278321May 22, 2023
LOC1268076191Oct 4, 2022
LOC1268596901Jun 28, 2024
LOC1268598071Feb 21, 2023
LOC1268612441Mar 30, 2022
LOC1268632391Apr 14, 2022
LOC1299309891Jun 28, 2024
LOC1299360561Oct 4, 2022
LOC1299959651Feb 21, 2023
LOC1300039801Jun 28, 2024
LOC1300053681Feb 21, 2023
LOC1300571041May 22, 2023
LOC1300625551Mar 30, 2022
LOC1300648551Apr 14, 2022
LONP11Feb 21, 2023
LOX1Mar 30, 2022
LRP51Feb 21, 2023
LRP61Jun 28, 2024
LZTR12Jun 28, 2024
MACF12Oct 4, 2022
MAN1B11Jun 28, 2024
MAP3K11Feb 21, 2023
MAPK8IP32Jun 28, 2024
MARVELD21Feb 21, 2023
MAT1A1Jun 28, 2024
MC3R2Jun 28, 2024
MCPH12Oct 4, 2022
MECP23Feb 21, 2023
MED122Feb 21, 2023
MED133May 22, 2023
MED13L3May 22, 2023
MED271Feb 21, 2023
MEN11Apr 14, 2022
MIR4733HG1Oct 4, 2022
MIR5551Feb 21, 2023
MIR68861Jun 28, 2024
MLH12Jun 28, 2024
MMAA1Feb 21, 2023
MORC21Feb 21, 2023
MSH61Oct 4, 2022
MSX11Apr 14, 2022
MT-TL11Oct 4, 2022
MTHFR3Jun 28, 2024
MTOR1May 22, 2023
MUTYH1Jun 28, 2024
MVP-DT1Jun 28, 2024
MYBPC31Oct 4, 2022
MYH116Jun 28, 2024
MYH141Oct 4, 2022
MYH72Oct 4, 2022
MYLK1Mar 30, 2022
MYLK21Jun 28, 2024
MYO7A1Feb 21, 2023
MYPN1Feb 21, 2023
MYT1L2Jun 28, 2024
NAA151Feb 21, 2023
NAGLU1Oct 4, 2022
NBEA2Jun 28, 2024
NDE13Jun 28, 2024
NDST11Feb 21, 2023
NEDD4L1Oct 4, 2022
NF19Jun 28, 2024
NFIB1Feb 21, 2023
NIPA21Feb 21, 2023
NIPAL4-DT1Oct 4, 2022
NIPBL1Oct 4, 2022
NKX2-11Jun 28, 2024
NLGN11Feb 21, 2023
NLRP31Jun 28, 2024
NONO1May 22, 2023
NOTCH21Jun 28, 2024
NOTCH36Jun 28, 2024
NPC11May 22, 2023
NPHP11Mar 30, 2022
NPHS21Jun 28, 2024
NR5A11Jun 28, 2024
NRAS1Oct 4, 2022
NSD12Oct 4, 2022
NT5DC11Feb 21, 2023
NTRK21Oct 4, 2022
OCA21Mar 19, 2024
OPA12Jun 28, 2024
OPLAH1Jun 28, 2024
OTC1Jun 28, 2024
OXCT11Jun 14, 2022
PACS11May 22, 2023
PACS21Oct 4, 2022
PAFAH1B11Feb 21, 2023
PAH5Jun 28, 2024
PAK12Mar 19, 2024
PAX31Oct 4, 2022
PAX71Jun 28, 2024
PCDH191Jun 28, 2024
PCNT2Oct 4, 2022
PCSK91Jun 28, 2024
PDE6B1Jun 28, 2024
PDE6B-AS11Jun 28, 2024
PDGFRB1May 22, 2023
PDHA12Jun 28, 2024
PGAP12Oct 4, 2022
PHEX3Jun 28, 2024
PHIP2Feb 21, 2023
PI4KA1Apr 14, 2022
PIEZO11Jun 28, 2024
PIGB1May 22, 2023
PIGN1Oct 4, 2022
PIK3CA1Oct 4, 2022
PIK3CG2Feb 21, 2023
PKD11Feb 21, 2023
PKHD111Jun 28, 2024
PLCB41Mar 30, 2022
PLVAP1May 22, 2023
POGZ1Feb 21, 2023
POLD11Feb 21, 2023
POLG3Jun 28, 2024
POLGARF3Jun 28, 2024
POLR2A1May 22, 2023
POMGNT11Feb 21, 2023
POT11Mar 19, 2024
POU3F31Mar 30, 2022
PPP2R1A1Feb 21, 2023
PPT11Jun 28, 2024
PROK21Jun 28, 2024
PROP11Jun 28, 2024
PRPF311May 22, 2023
PRPF31-AS11May 22, 2023
PRRT21Jun 28, 2024
PSMD121Mar 19, 2024
PTCH12Jun 28, 2024
PTCHD1-AS1Oct 4, 2022
PTEN1Feb 21, 2023
PTH1R2Jun 28, 2024
PTPN115Mar 19, 2024
QARS11Jun 28, 2024
RAB231Oct 4, 2022
RAB33B1Jun 28, 2024
RAB3GAP21Dec 29, 2021
RAF12Jun 28, 2024
RANBP21May 22, 2023
RDH121Jun 28, 2024
RELN2Feb 21, 2023
RERE1Jun 28, 2024
RHO1Jun 28, 2024
RNF2137Jun 28, 2024
RNF213-AS15Jun 28, 2024
RORA1Oct 4, 2022
RORA-AS11Oct 4, 2022
RP11Oct 4, 2022
RP1L11Jun 28, 2024
RPGR4Jun 28, 2024
RPL36A-HNRNPH21Jun 28, 2024
RPS281Jun 14, 2022
RRAGC1Feb 21, 2023
RRAS21Feb 21, 2023
RTEL12Apr 14, 2022
RTEL1-TNFRSF6B2Apr 14, 2022
RTN4IP11Jun 28, 2024
RYR11Jun 28, 2024
SAMD93Jun 28, 2024
SATB21Feb 21, 2023
SBF11Feb 21, 2023
SBF21Jun 14, 2022
SBF2-AS11Jun 14, 2022
SCN11A1Mar 30, 2022
SCN1A2Jun 28, 2024
SCN2A2Jun 14, 2022
SCN4A1May 22, 2023
SCN8A3Jun 28, 2024
SCNN1B1Oct 4, 2022
SDHA1Mar 30, 2022
SEC23B1Oct 4, 2022
SELENON2Mar 19, 2024
SEMA3A1Feb 21, 2023
SEMA6B1Oct 4, 2022
SERPINA11Jun 28, 2024
SERPINC12Jun 28, 2024
SERPIND11Apr 14, 2022
SERPINF11Feb 21, 2023
SETBP14May 22, 2023
SETD1A2Jun 28, 2024
SETD1B1Oct 4, 2022
SETD22Jun 28, 2024
SETD53Jun 28, 2024
SETX1Oct 4, 2022
SF3B11Jun 28, 2024
SFTA31Jun 28, 2024
SGSH2Jun 28, 2024
SHANK31Feb 21, 2023
SIK11Jan 8, 2022
SIN3A2Feb 21, 2023
SKIC21Feb 21, 2023
SKIC32Mar 30, 2022
SLC12A12Jun 28, 2024
SLC12A21Feb 21, 2023
SLC22A51Jun 28, 2024
SLC25A101Oct 4, 2022
SLC26A11Jun 28, 2024
SLC26A41Jun 28, 2024
SLC2A102Feb 22, 2022
SLC35D2-HSD17B31Feb 21, 2023
SLC9A71Feb 21, 2023
SMAD31May 4, 2022
SMARCA21Oct 4, 2022
SMARCA42Jun 28, 2024
SMARCAL13Jun 28, 2024
SMARCD11Jun 28, 2024
SNHG141Aug 16, 2022
SON1Jun 28, 2024
SOS14Jun 28, 2024
SOS22Feb 21, 2023
SOX41Feb 21, 2023
SOX91Jun 28, 2024
SPAG11Feb 21, 2023
SPATA221Oct 4, 2022
SPECC1L1Jun 28, 2024
SPECC1L-ADORA2A1Jun 28, 2024
SPEN2Oct 4, 2022
SPG112Oct 4, 2022
SPRED11Jun 28, 2024
SPRY41Jun 28, 2024
SPTB1Oct 4, 2022
SPTBN12Mar 19, 2024
SPTBN21Mar 19, 2024
SPTBN52May 22, 2023
SQSTM11Feb 21, 2023
SRCAP2Mar 19, 2024
SRD5A21Jun 28, 2024
SRFBP11Mar 30, 2022
STAG11Mar 19, 2024
STAG32Jun 28, 2024
STAT31Oct 4, 2022
STK112Jun 28, 2024
STK362May 22, 2023
STON1-GTF2A1L1Jun 28, 2024
STX1B1Feb 21, 2023
STXBP11Jan 8, 2022
SUMF11Oct 4, 2022
SUPT16H1Mar 19, 2024
SURF13Feb 21, 2023
SYN11Oct 4, 2022
SYNE11Aug 16, 2022
SYNGAP11Feb 21, 2023
SYNGAP1-AS11Feb 21, 2023
TACR31Jun 28, 2024
TAF11Feb 21, 2023
TANC21May 22, 2023
TAOK11Jun 28, 2024
TBCEL-TECTA1Jun 28, 2024
TBR11Aug 16, 2022
TBX191Oct 4, 2022
TCF203Feb 21, 2023
TCF41May 22, 2023
TCTN31Jun 28, 2024
TECTA1Jun 28, 2024
TET32Jun 28, 2024
TFE31Apr 14, 2022
TG1Jun 28, 2024
TGFB32Oct 4, 2022
TGFBR12Jun 28, 2024
THPO1Jun 28, 2024
THRB1Oct 4, 2022
TJP11Jun 28, 2024
TLR31Jun 28, 2024
TMEM701Feb 21, 2023
TNFAIP32Mar 19, 2024
TNNT21Mar 19, 2024
TNXB1Feb 21, 2023
TONSL1Jun 28, 2024
TONSL-AS11Jun 28, 2024
TPP11Feb 21, 2023
TRIM631Jun 14, 2022
TRIO2Oct 4, 2022
TRIP111Feb 21, 2023
TRIP122May 22, 2023
TRPC61Mar 30, 2022
TRPS11Oct 4, 2022
TRRAP5May 22, 2023
TSC13Jun 28, 2024
TSC24Jun 28, 2024
TSPAN11Feb 21, 2023
TUBB31Oct 4, 2022
TULP11Jun 28, 2024
TYR1Jun 28, 2024
UBE3A1Aug 16, 2022
UNC13D1Apr 14, 2022
USH2A9Jun 28, 2024
USH2A-AS13Jun 28, 2024
USP141Oct 4, 2022
USP9X1Oct 4, 2022
VHL1Jun 28, 2024
VPS13D1May 22, 2023
VWF2Jun 28, 2024
WARS11Oct 4, 2022
WDFY31Feb 21, 2023
WDR111Jun 28, 2024
WNT11Jun 28, 2024
WNT10A1Jun 28, 2024
WT11Oct 4, 2022
WWOX2Feb 21, 2023
YWHAG1Apr 14, 2022
ZBTB181Mar 30, 2022
ZEB23Oct 4, 2022
ZMIZ13Feb 21, 2023
ZMPSTE241Feb 22, 2022
ZMYM22May 22, 2023
ZMYND112Feb 21, 2023
ZNF2922Feb 21, 2023

Condition

NameSubmissionsLast Updated
Abnormal cardiovascular system morphology1Dec 29, 2021
Abnormal lymph node morphology1Dec 29, 2021
Abnormal pinna morphology1Dec 29, 2021
Achondrogenesis type II1Apr 14, 2022
Alagille syndrome due to a JAG1 point mutation1Mar 30, 2022
Aminoacylase 1 deficiency2Jun 14, 2022
Aortic aneurysm1Dec 29, 2021
Aortic aneurysm, familial thoracic 101Mar 30, 2022
Aortic aneurysm, familial thoracic 41Oct 4, 2022
Aortic aneurysm, familial thoracic 71Mar 30, 2022
Arachnodactyly1Dec 29, 2021
Arterial tortuosity syndrome2Feb 22, 2022
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome1Apr 14, 2022
Auriculocondylar syndrome 21Mar 30, 2022
Autism1Jan 8, 2022
Autism spectrum disorder due to AUTS2 deficiency1Feb 21, 2023
Autosomal dominant centronuclear myopathy1Mar 30, 2022
Autosomal dominant optic atrophy classic form1Oct 4, 2022
Autosomal recessive limb-girdle muscular dystrophy type 2I1Mar 30, 2022
Autosomal recessive nonsyndromic hearing loss 891Mar 30, 2022
Autosomal recessive spinocerebellar ataxia 121Apr 14, 2022
Bartter disease type 4A1Mar 30, 2022
Beck-Fahrner syndrome1Jun 28, 2024
Biotinidase deficiency2Apr 14, 2022
CBL-related disorder1Apr 14, 2022
CHARGE syndrome1May 4, 2022
Carnitine palmitoyl transferase 1A deficiency2Mar 30, 2022
Cerebellar ataxia1Jan 8, 2022
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 11Mar 30, 2022
Cervical lymphadenopathy1Dec 29, 2021
Charcot-Marie-Tooth disease X-linked dominant 12Feb 21, 2023
Charcot-Marie-Tooth disease type 4B21Jun 14, 2022
Choroideremia1Mar 30, 2022
Coffin-Siris syndrome 11Jun 28, 2024
Cone-rod dystrophy 151Mar 30, 2022
Congenital dyserythropoietic anemia, type II1Oct 4, 2022
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder1Jun 14, 2022
Crouzon syndrome1Feb 21, 2023
Cystic fibrosis3Feb 21, 2023
Depressed nasal ridge1Dec 29, 2021
Developmental and epileptic encephalopathy, 281Apr 14, 2022
Developmental and epileptic encephalopathy, 462Feb 21, 2023
Developmental and epileptic encephalopathy, 561Apr 14, 2022
Developmental cataract1Dec 29, 2021
Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities1Mar 30, 2022
Diamond-Blackfan anemia 15 with mandibulofacial dysostosis1Jun 14, 2022
Duchenne muscular dystrophy1Mar 30, 2022
Dystonia 122Feb 22, 2022
Ehlers-Danlos syndrome due to tenascin-X deficiency1Feb 21, 2023
Ehlers-Danlos syndrome, type 41Apr 14, 2022
Epicanthus1Dec 29, 2021
Factor XIII, A subunit, deficiency of1Feb 21, 2023
Familial dysfibrinogenemia3Apr 14, 2022
Familial episodic pain syndrome with predominantly lower limb involvement1Mar 30, 2022
Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young2Oct 4, 2022
Febrile seizures, familial, 81Jun 14, 2022
Floating-Harbor syndrome1Mar 30, 2022
Focal segmental glomerulosclerosis 21Mar 30, 2022
Fragile X syndrome1Apr 14, 2022
Galactosylceramide beta-galactosidase deficiency1Apr 14, 2022
Global developmental delay4Jan 8, 2022
Heparin cofactor II deficiency1Apr 14, 2022
Hereditary factor IX deficiency disease1Feb 22, 2022
Hereditary factor VIII deficiency disease2Mar 19, 2024
Holoprosencephaly 91Mar 30, 2022
Homocystinuria due to methylene tetrahydrofolate reductase deficiency1Dec 6, 2023
Hypercholesterolemia, familial, 12Dec 31, 2023
Hypogonadotropic hypogonadism 7 with or without anosmia2Mar 30, 2022
Hypoplastic aortic arch3Dec 29, 2021
Immunodeficiency 491Mar 30, 2022
Inborn glycerol kinase deficiency1Jun 28, 2024
Increased nuchal translucency1Dec 29, 2021
Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies1Apr 14, 2022
Intellectual developmental disorder, autosomal dominant 641Jun 14, 2022
Intellectual disability, X-linked 631Mar 30, 2022
Intellectual disability, X-linked syndromic, Turner type1Feb 21, 2023
Intellectual disability, autosomal dominant 221Mar 30, 2022
Intellectual disability, autosomal dominant 461Mar 30, 2022
Intellectual disability, autosomal dominant 511Oct 4, 2022
Intellectual disability-severe speech delay-mild dysmorphism syndrome1Jun 14, 2022
Kniest dysplasia1Apr 14, 2022
Language disorder1Jan 8, 2022
Large for gestational age1Jan 8, 2022
Lens luxation1Dec 29, 2021
Lethal tight skin contracture syndrome1Feb 22, 2022
Lissencephaly1Jan 8, 2022
Loeys-Dietz syndrome 11Jun 28, 2024
Macrocephaly1Jan 8, 2022
Marfan syndrome9Feb 21, 2023
Medium-chain acyl-coenzyme A dehydrogenase deficiency1Jun 28, 2024
Microcephaly3Jan 8, 2022
Microcephaly 5, primary, autosomal recessive1Mar 30, 2022
Microphthalmia1Dec 29, 2021
Mitochondrial DNA depletion syndrome 4b1Mar 30, 2022
Mitral valve prolapse1Dec 29, 2021
Moderate global developmental delay1Jan 8, 2022
Mowat-Wilson syndrome1Apr 14, 2022
Moyamoya disease 22Feb 21, 2023
Mucopolysaccharidosis, MPS-III-B1Oct 4, 2022
Multiple congenital anomalies-hypotonia-seizures syndrome 11Oct 4, 2022
Multiple endocrine neoplasia, type 11Apr 14, 2022
Namaqualand hip dysplasia1Apr 14, 2022
Nephronophthisis 11Mar 30, 2022
Nephrotic syndrome, type 41Oct 4, 2022
Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset1Feb 21, 2023
Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies1Feb 21, 2023
Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures1Apr 14, 2022
Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities1Apr 14, 2022
Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities1Apr 14, 2022
Neurofibromatosis, type 14Oct 4, 2022
Noonan syndrome 11Oct 4, 2022
Noonan syndrome 31Apr 14, 2022
Noonan syndrome 91Apr 14, 2022
Obesity1Jan 8, 2022
Oculofaciocardiodental syndrome1Apr 14, 2022
Optic disc pallor1Jan 8, 2022
Osteogenesis imperfecta type I2Jun 28, 2024
Osteogenesis imperfecta type III1Apr 14, 2022
Osteogenesis imperfecta with normal sclerae, dominant form1Apr 14, 2022
Osteogenesis imperfecta, perinatal lethal1Apr 14, 2022
PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome1Jun 14, 2022
Paragangliomas 51Mar 30, 2022
Perlman syndrome1Mar 30, 2022
Persistent pupillary membrane1Dec 29, 2021
Pes planus1Dec 29, 2021
Phenylketonuria2Feb 21, 2023
Platyspondylic dysplasia, Torrance type1Apr 14, 2022
Polycystic kidney disease3Dec 29, 2021
Pontocerebellar hypoplasia type 1B1Apr 14, 2022
Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome1Mar 30, 2022
Primary ciliary dyskinesia 31Mar 30, 2022
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 11Mar 30, 2022
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 11Mar 30, 2022
Progressive sclerosing poliodystrophy1Mar 30, 2022
Protoporphyria, erythropoietic, 12Mar 30, 2022
Retinitis pigmentosa 11Oct 4, 2022
Retinitis pigmentosa 32Oct 4, 2022
Retinitis pigmentosa 393Mar 30, 2022
Rubinstein-Taybi syndrome due to CREBBP mutations1Mar 30, 2022
See cases706Jun 28, 2024
Seizure2Jan 8, 2022
Severe early-childhood-onset retinal dystrophy2Mar 30, 2022
Short stature1Dec 29, 2021
Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans1Feb 22, 2022
Sifrim-Hitz-Weiss syndrome1Mar 30, 2022
Singleton-Merten syndrome 11Apr 14, 2022
Snijders Blok-Campeau syndrome1Mar 30, 2022
Snijders blok-fisher syndrome1Mar 30, 2022
Specific learning disability1Jan 8, 2022
Spermatogenic failure, Y-linked, 22Oct 4, 2022
Spinocerebellar ataxia 71Jun 14, 2022
Spondyloepimetaphyseal dysplasia, Strudwick type1Apr 14, 2022
Spondyloperipheral dysplasia1Apr 14, 2022
Spongy degeneration of central nervous system1Oct 4, 2022
Succinyl-CoA acetoacetate transferase deficiency1Jun 14, 2022
Tay-Sachs disease1Jun 14, 2022
Tooth agenesis, selective, 11Apr 14, 2022
Tooth agenesis, selective, X-linked, 11Mar 30, 2022
Tremor1Jan 8, 2022
Trichohepatoenteric syndrome 12Mar 30, 2022
Tuberous sclerosis 11Apr 14, 2022
Usher syndrome type 2A1Mar 30, 2022
Very long chain acyl-CoA dehydrogenase deficiency1Apr 14, 2022
Vitelliform macular dystrophy 22Oct 4, 2022
Wide nasal bridge1Dec 29, 2021
Wiedemann-Steiner syndrome1Jun 14, 2022
Wilson disease1Oct 4, 2022
X-linked Alport syndrome1Feb 22, 2022
X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome1Mar 30, 2022
von Willebrand disease type 11Feb 22, 2022