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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: 825

Gene

GeneSubmissionsLast Updated
ABCA32Feb 21, 2023
ABCA46Oct 4, 2022
ABCB41Feb 21, 2023
ABCC62Oct 4, 2022
ABCC81Oct 4, 2022
ABCC91Feb 21, 2023
ABHD14A-ACY12Jun 14, 2022
ACADM4Oct 4, 2022
ACADVL3Apr 14, 2022
ACAN3May 22, 2023
ACP51Oct 4, 2022
ACSL41Mar 30, 2022
ACTA21Aug 16, 2022
ACTB1Oct 4, 2022
ACVRL11Oct 4, 2022
ACY12Jun 14, 2022
ADA21Oct 4, 2022
ADAMTS133Feb 21, 2023
ADCY51Feb 21, 2023
AHDC11Oct 4, 2022
AHI14May 22, 2023
AKT11Oct 4, 2022
ALAS21Oct 4, 2022
ALDH5A11Oct 4, 2022
ALDH7A12Jun 14, 2022
ALPL2Oct 4, 2022
ANKRD114May 22, 2023
ANOS12Oct 4, 2022
APOB3Oct 4, 2022
AR2Feb 21, 2023
ARCN11Feb 21, 2023
ARFGEF11Feb 21, 2023
ARFGEF1-DT1Oct 4, 2022
ARHGAP311May 22, 2023
ARID1B1Oct 4, 2022
ARID22Feb 21, 2023
ARX1May 22, 2023
ASH1L2May 22, 2023
ASPA1Oct 4, 2022
ASPM3Oct 4, 2022
ASS13Jan 8, 2022
ASXL32Oct 4, 2022
ATIC2Oct 4, 2022
ATL11Jan 8, 2022
ATP1A21Oct 4, 2022
ATP1A31Feb 22, 2022
ATP2B31May 22, 2023
ATP7A1Oct 4, 2022
ATP7B1Oct 4, 2022
ATRX1Oct 4, 2022
ATXN71Jun 14, 2022
AUTS21Feb 21, 2023
B3GAT31Feb 21, 2023
BCKDHB1Oct 4, 2022
BCL11B3Oct 4, 2022
BCOR1Apr 14, 2022
BCORL11Oct 4, 2022
BEST12Oct 4, 2022
BICC11Oct 4, 2022
BRSK21Feb 21, 2023
BSCL21May 22, 2023
BSND1Mar 30, 2022
BTD2Apr 14, 2022
C1R1Oct 4, 2022
C1S1Oct 4, 2022
CACNA1A1Feb 21, 2023
CACNA1E2May 22, 2023
CACNA1H1Oct 4, 2022
CASR1Apr 14, 2022
CAVIN11Feb 21, 2023
CBL8Oct 4, 2022
CBS3Feb 21, 2023
CC2D2A1May 4, 2022
CCDC402Feb 21, 2023
CD362Oct 4, 2022
CDC42BPB3May 22, 2023
CDHR11Mar 30, 2022
CDK131Jun 14, 2022
CDK5RAP22Apr 14, 2022
CEP2901Oct 4, 2022
CFTR3Oct 4, 2022
CHAMP11Feb 21, 2023
CHD21Oct 4, 2022
CHD32Apr 14, 2022
CHD41Mar 30, 2022
CHD51May 22, 2023
CHD72Oct 4, 2022
CHD81Feb 21, 2023
CHM1Mar 30, 2022
CIC4May 22, 2023
CIT1Feb 21, 2023
CLCN61Oct 4, 2022
CLIC21Mar 30, 2022
CNOT12May 22, 2023
CNOT31Oct 4, 2022
CNTNAP11Aug 16, 2022
COL10A11Feb 21, 2023
COL11A21Oct 4, 2022
COL1A18Feb 21, 2023
COL1A24Oct 4, 2022
COL2A13May 22, 2023
COL3A14Oct 4, 2022
COL4A11Aug 16, 2022
COL4A24Oct 4, 2022
COL4A2-AS11Apr 14, 2022
COL4A41Feb 21, 2023
COL4A52Oct 4, 2022
COL5A12Feb 21, 2023
COL7A11May 4, 2022
COMP1Aug 16, 2022
COPA1Oct 4, 2022
COQ8B1Oct 4, 2022
CPA61Oct 4, 2022
CPAMD81Oct 4, 2022
CPLANE14Oct 4, 2022
CPT1A2Mar 30, 2022
CPT22Oct 4, 2022
CRADD1Dec 29, 2021
CREBBP2Apr 14, 2022
CRX1Oct 4, 2022
CSRP31May 22, 2023
CTCF1Feb 21, 2023
CTU22Oct 4, 2022
CYFIP22Jan 27, 2023
CYP21A21May 4, 2022
DARS21Jun 14, 2022
DDX3X1Feb 24, 2023
DEPDC51May 22, 2023
DHX301Feb 21, 2023
DIS3L21Mar 30, 2022
DLL12Feb 21, 2023
DMD6May 22, 2023
DNAH52May 4, 2022
DNAI12Oct 4, 2022
DNM11Oct 4, 2022
DNM21Mar 30, 2022
DNMT3A2Oct 4, 2022
DSP1Oct 4, 2022
DUOX21Oct 4, 2022
DVL11Oct 4, 2022
DYNC1H12Oct 4, 2022
EDA2Oct 4, 2022
EEF1A21Jan 8, 2022
EIF1AX1Oct 4, 2022
ELN1May 4, 2022
ENG2Feb 21, 2023
EP3001Oct 4, 2022
EPHB42Feb 21, 2023
EXOSC31Apr 14, 2022
F13A11Feb 21, 2023
F71Feb 21, 2023
F81Feb 22, 2022
F91Feb 22, 2022
FAH1May 22, 2023
FAM111A1Oct 4, 2022
FBN115Feb 21, 2023
FBXO111Oct 4, 2022
FECH3Oct 4, 2022
FGA4Oct 4, 2022
FGB3Oct 4, 2022
FGF231Jun 14, 2022
FGFR14Oct 4, 2022
FGFR22Feb 21, 2023
FGG1Oct 4, 2022
FH1Feb 21, 2023
FIG41Oct 4, 2022
FKRP1Mar 30, 2022
FLCN1May 22, 2023
FLNA4Oct 4, 2022
FLNC1Oct 4, 2022
FMR11Apr 14, 2022
FN12Aug 16, 2022
FOXF12Oct 4, 2022
FOXL21Oct 4, 2022
FOXP11Jun 14, 2022
FRA10AC11Feb 21, 2023
G6PD2Oct 4, 2022
GABRG21Jun 14, 2022
GALC1Apr 14, 2022
GAN1Oct 4, 2022
GAS81Oct 4, 2022
GATAD2B1Jun 14, 2022
GJB11Feb 21, 2023
GJB22May 4, 2022
GJC21Oct 4, 2022
GK1May 22, 2023
GLA1Oct 4, 2022
GLI21Mar 30, 2022
GNA111Feb 21, 2023
GNAS1Apr 14, 2022
GNB11Apr 14, 2022
GNB41Oct 4, 2022
GNRHR3Oct 4, 2022
GPC41Aug 16, 2022
GPHN1Oct 4, 2022
GRIA31Oct 4, 2022
GRIA43Feb 21, 2023
GRIK22Feb 21, 2023
GRIN12Oct 4, 2022
GRIN2A3Feb 21, 2023
GRIN2D4Feb 21, 2023
GRM71Apr 14, 2022
HEXA1Jun 14, 2022
HFE1May 4, 2022
HFE-AS11May 4, 2022
HGD2Oct 4, 2022
HIVEP21Oct 4, 2022
HK12Oct 4, 2022
HNF4A1Mar 30, 2022
HNRNPDL1May 22, 2023
HNRNPU1Oct 4, 2022
HNRNPUL2-BSCL21May 22, 2023
HPS42Oct 4, 2022
HS6ST11Oct 4, 2022
HSD17B31Feb 21, 2023
HUWE11Feb 21, 2023
IDS1Oct 4, 2022
IDUA2Oct 4, 2022
IFIH14Oct 4, 2022
IL1RAPL11Feb 21, 2023
INSL61May 22, 2023
INSR2May 22, 2023
IQSEC21Oct 4, 2022
IRF2BPL1Feb 21, 2023
JAG12Oct 4, 2022
JAK21May 22, 2023
JUP1Aug 16, 2022
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
KCNQ23Feb 21, 2023
KCNQ31Oct 4, 2022
KCNQ51Mar 30, 2022
KCNT11Apr 14, 2022
KDM1A1Oct 4, 2022
KDM3B4Feb 21, 2023
KDM4B1Feb 21, 2023
KDM5C1May 22, 2023
KDM6A2Oct 4, 2022
KDM6B1Feb 21, 2023
KIDINS2201May 22, 2023
KIF221May 22, 2023
KISS1R1Oct 4, 2022
KMT2A3Oct 4, 2022
KMT2B1Oct 4, 2022
KMT2C4Feb 21, 2023
KMT2E3May 22, 2023
KMT5B2May 22, 2023
KRAS2Oct 4, 2022
KRIT11Feb 21, 2023
LAMA11Apr 14, 2022
LDLR13Dec 31, 2023
LDLRAP11Oct 4, 2022
LHCGR1May 4, 2022
LIPE1Feb 21, 2023
LIPE-AS11Feb 21, 2023
LOC1019300711Feb 21, 2023
LOC1027240581Feb 21, 2023
LOC1053691491Jun 14, 2022
LOC1067808001May 4, 2022
LOC1073033401Oct 4, 2022
LOC1118119651Oct 4, 2022
LOC1125336721Apr 14, 2022
LOC1216278321May 22, 2023
LOC1268076191Oct 4, 2022
LOC1268596901Oct 4, 2022
LOC1268598071Feb 21, 2023
LOC1268612441Mar 30, 2022
LOC1268632391Apr 14, 2022
LOC1299360561Oct 4, 2022
LOC1299959651Feb 21, 2023
LOC1300039801Oct 4, 2022
LOC1300053681Feb 21, 2023
LOC1300571041May 22, 2023
LOC1300625551Mar 30, 2022
LOC1300648551Apr 14, 2022
LONP11Feb 21, 2023
LOX1Mar 30, 2022
LRP51Feb 21, 2023
LRP61Oct 4, 2022
LZTR12Oct 4, 2022
MACF12Oct 4, 2022
MAN1B11Oct 4, 2022
MAP3K11Feb 21, 2023
MAPK8IP32Oct 4, 2022
MARVELD21Feb 21, 2023
MAT1A1Oct 4, 2022
MC3R2Oct 4, 2022
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
MIR68861Oct 4, 2022
MLH12Oct 4, 2022
MMAA1Feb 21, 2023
MORC21Feb 21, 2023
MSH61Oct 4, 2022
MSX11Apr 14, 2022
MT-TL11Oct 4, 2022
MTHFR3Dec 6, 2023
MTOR1May 22, 2023
MUTYH1Oct 4, 2022
MVP-DT1Oct 4, 2022
MYBPC31Oct 4, 2022
MYH116Oct 4, 2022
MYH141Oct 4, 2022
MYH72Oct 4, 2022
MYLK1Mar 30, 2022
MYLK21Apr 14, 2022
MYO7A1Feb 21, 2023
MYPN1Feb 21, 2023
MYT1L2Oct 4, 2022
NAA151Feb 21, 2023
NAGLU1Oct 4, 2022
NBEA2Feb 21, 2023
NDE13Oct 4, 2022
NDST11Feb 21, 2023
NEDD4L1Oct 4, 2022
NF18May 22, 2023
NFIB1Feb 21, 2023
NIPA21Feb 21, 2023
NIPAL4-DT1Oct 4, 2022
NIPBL1Oct 4, 2022
NKX2-11Oct 4, 2022
NLGN11Feb 21, 2023
NLRP31Aug 16, 2022
NONO1May 22, 2023
NOTCH36Feb 21, 2023
NPC11May 22, 2023
NPHP11Mar 30, 2022
NPHS21May 4, 2022
NR5A11Aug 16, 2022
NRAS1Oct 4, 2022
NSD12Oct 4, 2022
NT5DC11Feb 21, 2023
NTRK21Oct 4, 2022
OPA12Oct 4, 2022
OPLAH1Jan 8, 2022
OTC1Oct 4, 2022
OXCT11Jun 14, 2022
PACS11May 22, 2023
PACS21Oct 4, 2022
PAFAH1B11Feb 21, 2023
PAH5Oct 4, 2022
PAK11Oct 4, 2022
PAX31Oct 4, 2022
PAX71Jan 11, 2022
PCDH191Oct 4, 2022
PCNT2Oct 4, 2022
PCSK91Oct 4, 2022
PDE6B1Jul 28, 2021
PDE6B-AS11Jul 28, 2021
PDGFRB1May 22, 2023
PDHA11Oct 4, 2022
PGAP12Oct 4, 2022
PHEX3Oct 4, 2022
PHIP2Feb 21, 2023
PI4KA1Apr 14, 2022
PIEZO11Apr 14, 2022
PIGB1May 22, 2023
PIGN1Oct 4, 2022
PIK3CA1Oct 4, 2022
PIK3CG2Feb 21, 2023
PKD11Feb 21, 2023
PKHD19Oct 4, 2022
PLCB41Mar 30, 2022
PLVAP1May 22, 2023
POGZ1Feb 21, 2023
POLD11Feb 21, 2023
POLG3Oct 4, 2022
POLGARF3Oct 4, 2022
POLR2A1May 22, 2023
POMGNT11Feb 21, 2023
POU3F31Mar 30, 2022
PPP2R1A1Feb 21, 2023
PPT11Apr 14, 2022
PROK21Jun 14, 2022
PROP11May 4, 2022
PRPF311May 22, 2023
PRPF31-AS11May 22, 2023
PRRT21Oct 4, 2022
PTCH12Aug 16, 2022
PTCHD1-AS1Oct 4, 2022
PTEN1Feb 21, 2023
PTH1R2Mar 2, 2023
PTPN114Oct 4, 2022
QARS11May 4, 2022
RAB231Oct 4, 2022
RAB33B1Oct 4, 2022
RAB3GAP21Dec 29, 2021
RAF12May 22, 2023
RANBP21May 22, 2023
RDH121Oct 4, 2022
RELN2Feb 21, 2023
RERE1Oct 4, 2022
RHO1Oct 4, 2022
RNF2137Feb 21, 2023
RNF213-AS15Feb 21, 2023
RORA1Oct 4, 2022
RORA-AS11Oct 4, 2022
RP11Oct 4, 2022
RP1L11Oct 4, 2022
RPGR4Oct 4, 2022
RPL36A-HNRNPH21Oct 4, 2022
RPS281Jun 14, 2022
RRAGC1Feb 21, 2023
RRAS21Feb 21, 2023
RTEL12Apr 14, 2022
RTEL1-TNFRSF6B2Apr 14, 2022
RTN4IP11Oct 4, 2022
RYR11Apr 14, 2022
SAMD93May 22, 2023
SATB21Feb 21, 2023
SBF11Feb 21, 2023
SBF21Jun 14, 2022
SBF2-AS11Jun 14, 2022
SCN11A1Mar 30, 2022
SCN1A2Feb 21, 2023
SCN2A2Jun 14, 2022
SCN4A1May 22, 2023
SCN8A3May 22, 2023
SCNN1B1Oct 4, 2022
SDHA1Mar 30, 2022
SEC23B1Oct 4, 2022
SEMA3A1Feb 21, 2023
SEMA6B1Oct 4, 2022
SERPINA11Jan 8, 2022
SERPINC12Oct 4, 2022
SERPIND11Apr 14, 2022
SERPINF11Feb 21, 2023
SETBP14May 22, 2023
SETD1A2May 22, 2023
SETD1B1Oct 4, 2022
SETD22Aug 16, 2022
SETD53May 22, 2023
SETX1Oct 4, 2022
SF3B11Jan 8, 2022
SFTA31Oct 4, 2022
SGSH2Oct 4, 2022
SHANK31Feb 21, 2023
SIK11Jan 8, 2022
SIN3A2Feb 21, 2023
SKIC21Feb 21, 2023
SKIC32Mar 30, 2022
SLC12A21Feb 21, 2023
SLC22A51Jan 11, 2022
SLC25A101Oct 4, 2022
SLC26A11Oct 4, 2022
SLC26A41Jan 8, 2022
SLC2A102Feb 22, 2022
SLC35D2-HSD17B31Feb 21, 2023
SLC9A71Feb 21, 2023
SMAD31May 4, 2022
SMARCA21Oct 4, 2022
SMARCA42Oct 4, 2022
SMARCD11Oct 4, 2022
SNHG141Aug 16, 2022
SOS14Feb 21, 2023
SOS22Feb 21, 2023
SOX41Feb 21, 2023
SOX91Jun 14, 2022
SPAG11Feb 21, 2023
SPATA221Oct 4, 2022
SPECC1L1Oct 4, 2022
SPECC1L-ADORA2A1Oct 4, 2022
SPEN2Oct 4, 2022
SPG112Oct 4, 2022
SPRED11Oct 4, 2022
SPRY41Jan 8, 2022
SPTB1Oct 4, 2022
SPTBN11Feb 21, 2023
SPTBN52May 22, 2023
SQSTM11Feb 21, 2023
SRCAP1Mar 30, 2022
SRD5A21Oct 4, 2022
SRFBP11Mar 30, 2022
STAG32Oct 4, 2022
STAT31Oct 4, 2022
STK112Oct 4, 2022
STK362May 22, 2023
STON1-GTF2A1L1May 4, 2022
STX1B1Feb 21, 2023
STXBP11Jan 8, 2022
SUMF11Oct 4, 2022
SURF13Feb 21, 2023
SYN11Oct 4, 2022
SYNE11Aug 16, 2022
SYNGAP11Feb 21, 2023
SYNGAP1-AS11Feb 21, 2023
TACR31Jun 14, 2022
TAF11Feb 21, 2023
TANC21May 22, 2023
TAOK11Apr 14, 2022
TBCEL-TECTA1Oct 4, 2022
TBR11Aug 16, 2022
TBX191Oct 4, 2022
TCF203Feb 21, 2023
TCF41May 22, 2023
TCTN31Apr 14, 2022
TECTA1Oct 4, 2022
TET31May 22, 2023
TFE31Apr 14, 2022
TG1Oct 4, 2022
TGFB32Oct 4, 2022
TGFBR11Feb 21, 2023
THPO1Oct 4, 2022
THRB1Oct 4, 2022
TJP11Apr 14, 2022
TLR31Apr 14, 2022
TMEM701Feb 21, 2023
TNFAIP31Feb 21, 2023
TNXB1Feb 21, 2023
TONSL1Apr 14, 2022
TONSL-AS11Apr 14, 2022
TPP11Feb 21, 2023
TRIM631Jun 14, 2022
TRIO2Oct 4, 2022
TRIP111Feb 21, 2023
TRIP122May 22, 2023
TRPC61Mar 30, 2022
TRPS11Oct 4, 2022
TRRAP5May 22, 2023
TSC13Feb 21, 2023
TSC24Oct 4, 2022
TSPAN11Feb 21, 2023
TUBB31Oct 4, 2022
TULP11Oct 4, 2022
TYR1Oct 4, 2022
UBE3A1Aug 16, 2022
UNC13D1Apr 14, 2022
USH2A9Oct 4, 2022
USH2A-AS13Oct 4, 2022
USP141Oct 4, 2022
USP9X1Oct 4, 2022
VHL1Oct 4, 2022
VPS13D1May 22, 2023
VWF2Feb 22, 2022
WARS11Oct 4, 2022
WDFY31Feb 21, 2023
WDR111Oct 4, 2022
WNT11Oct 4, 2022
WNT10A1May 4, 2022
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
46,XY sex reversal 111May 4, 2022
Abnormal bone structure1Oct 4, 2022
Abnormal cardiac atrium morphology1Oct 4, 2022
Abnormal cardiovascular system morphology1Dec 29, 2021
Abnormal circulating glucose-6-phosphate dehydrogenase concentration1Oct 4, 2022
Abnormal circulating lipid concentration2Oct 4, 2022
Abnormal circulating thyroid hormone concentration1Oct 4, 2022
Abnormal lymph node morphology1Dec 29, 2021
Abnormal pinna morphology1Dec 29, 2021
Abnormal retinal morphology2Oct 4, 2022
Abnormality of bone mineral density1Oct 4, 2022
Abnormality of connective tissue5Oct 4, 2022
Abnormality of iron homeostasis1May 4, 2022
Abnormality of lysosomal metabolism1Oct 4, 2022
Abnormality of mucopolysaccharide metabolism2Oct 4, 2022
Abnormality of the dentition1Oct 4, 2022
Abnormality of the female genitalia1May 4, 2022
Abnormality of the pulmonary vasculature1Oct 4, 2022
Abnormality of the skeletal system1Oct 4, 2022
Achondrogenesis type II1Apr 14, 2022
Alagille syndrome due to a JAG1 point mutation1Mar 30, 2022
Albinism2Oct 4, 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
Autism4Oct 4, 2022
Autism spectrum disorder due to AUTS2 deficiency1Feb 21, 2023
Autistic behavior4May 4, 2022
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
Axial hypotonia2Jan 11, 2022
Bartter disease type 4A1Mar 30, 2022
Biotinidase deficiency2Apr 14, 2022
CBL-related disorder1Apr 14, 2022
CHARGE association1May 4, 2022
Cardiomyopathy2Oct 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
Cerebral edema2Apr 14, 2022
Cervical lymphadenopathy1Dec 29, 2021
Charcot-Marie-Tooth disease X-linked dominant 12Feb 21, 2023
Charcot-Marie-Tooth disease type 4B21Jun 14, 2022
Choroidal melanoma1Oct 4, 2022
Choroideremia1Mar 30, 2022
Chronic lung disease3Oct 4, 2022
Citrullinemia3Jan 8, 2022
Colon cancer1Oct 4, 2022
Colorectal polyposis1Oct 4, 2022
Cone-rod dystrophy2Jan 8, 2022
Cone-rod dystrophy 151Mar 30, 2022
Congenital blindness2Oct 4, 2022
Congenital dyserythropoietic anemia, type II1Oct 4, 2022
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder1Jun 14, 2022
Congenital omphalocele2Oct 4, 2022
Crouzon syndrome1Feb 21, 2023
Cystic fibrosis3Feb 21, 2023
Decreased glucose-6-phosphate dehydrogenase level in blood1May 4, 2022
Delayed skeletal maturation1Oct 4, 2022
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
Dysfibrinogenemia1Oct 4, 2022
Dystonia 122Feb 22, 2022
Dystonic disorder1Oct 4, 2022
Ehlers-Danlos syndrome due to tenascin-X deficiency1Feb 21, 2023
Ehlers-Danlos syndrome, type 41Apr 14, 2022
Epicanthus1Dec 29, 2021
Epileptic encephalopathy1Jan 8, 2022
Erythema1Oct 4, 2022
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 delay25Oct 4, 2022
Hemihypertrophy1Oct 4, 2022
Hemiplegia1Oct 4, 2022
Hemolytic anemia1Apr 14, 2022
Heparin cofactor II deficiency1Apr 14, 2022
Hereditary factor IX deficiency disease1Feb 22, 2022
Hereditary factor VIII deficiency disease1Feb 22, 2022
Holoprosencephaly 91Mar 30, 2022
Homocystinuria due to methylene tetrahydrofolate reductase deficiency1Dec 6, 2023
Hydrops fetalis1Oct 4, 2022
Hypercholesterolemia9Oct 4, 2022
Hypercholesterolemia, familial, 12Dec 31, 2023
Hypergonadotropic hypogonadism4Oct 4, 2022
Hypermagnesemia1Apr 14, 2022
Hypermethioninemia1Oct 4, 2022
Hypoammonemia3Oct 4, 2022
Hypogonadotropic hypogonadism12Oct 4, 2022
Hypogonadotropic hypogonadism 7 with or without anosmia2Mar 30, 2022
Hypophosphatemia3Oct 4, 2022
Hypoplastic aortic arch3Dec 29, 2021
Hypospadias1Aug 16, 2022
Hypothyroidism2Oct 4, 2022
Immunodeficiency 491Mar 30, 2022
Increased erythrocyte protoporphyrin concentration1Oct 4, 2022
Increased nuchal translucency2Oct 4, 2022
Inflammatory abnormality of the skin1Aug 16, 2022
Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies1Apr 14, 2022
Intellectual developmental disorder, autosomal dominant 641Jun 14, 2022
Intellectual disability1Oct 4, 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
Interstitial pneumonitis1Oct 4, 2022
Intervertebral disk calcification2Oct 4, 2022
Intestinal polyposis1Oct 4, 2022
Ketosis1Jan 8, 2022
Kidney disorder4Oct 4, 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
Limb-girdle muscular dystrophy1Jan 8, 2022
Lissencephaly1Jan 8, 2022
Macrocephaly1Jan 8, 2022
Macular dystrophy3Oct 4, 2022
Marfan syndrome9Feb 21, 2023
Medium chain dicarboxylic aciduria2Aug 16, 2022
Medulloblastoma1Apr 14, 2022
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
Mucopolysacchariduria1May 4, 2022
Multiple congenital anomalies-hypotonia-seizures syndrome 11Oct 4, 2022
Multiple endocrine neoplasia, type 11Apr 14, 2022
Muscular atrophy1Oct 4, 2022
Muscular dystrophy1Oct 4, 2022
Myelodysplasia2Oct 4, 2022
Myopathy1Apr 14, 2022
Namaqualand hip dysplasia1Apr 14, 2022
Neonatal epileptic spasm2Jun 14, 2022
Neoplasm1Oct 4, 2022
Neoplasm of the large intestine1Oct 4, 2022
Nephritis2Oct 4, 2022
Nephronophthisis 11Mar 30, 2022
Nephrotic syndrome1May 4, 2022
Nephrotic syndrome, type 41Oct 4, 2022
Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset1Feb 21, 2023
Neurodevelopmental delay2Jan 27, 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
Neurofibromatosis2Oct 4, 2022
Neurofibromatosis, type 14Oct 4, 2022
Noonan syndrome 11Oct 4, 2022
Noonan syndrome 31Apr 14, 2022
Noonan syndrome 91Apr 14, 2022
Obesity4Oct 4, 2022
Ocular albinism1Oct 4, 2022
Oculofaciocardiodental syndrome1Apr 14, 2022
Oligodontia3Mar 2, 2023
Optic atrophy1Oct 4, 2022
Optic disc pallor1Jan 8, 2022
Optic nerve dysplasia1Oct 4, 2022
Osteogenesis imperfecta type I1Apr 14, 2022
Osteogenesis imperfecta type III1Apr 14, 2022
Osteogenesis imperfecta with normal sclerae, dominant form1Apr 14, 2022
Osteogenesis imperfecta, recessive perinatal lethal1Apr 14, 2022
Osteoporosis3Oct 4, 2022
PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome1Jun 14, 2022
Panhypopituitarism1May 4, 2022
Paragangliomas 51Mar 30, 2022
Perlman syndrome1Mar 30, 2022
Persistent pupillary membrane1Dec 29, 2021
Pes planus1Dec 29, 2021
Phenylketonuria2Feb 21, 2023
Pigmentary retinopathy2Oct 4, 2022
Platyspondylic dysplasia, Torrance type1Apr 14, 2022
Polycystic kidney disease4Oct 4, 2022
Polyneuropathy1Oct 4, 2022
Pontocerebellar hypoplasia type 1B1Apr 14, 2022
Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome1Mar 30, 2022
Premature ovarian insufficiency1Oct 4, 2022
Pretibial dystrophic epidermolysis bullosa1May 4, 2022
Primary ciliary dyskinesia3Oct 4, 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
Pulmonary lymphangiectasia1Oct 4, 2022
Reduced circulating alpha-1-antitrypsin concentration1Jan 8, 2022
Reduced phenylalanine hydroxylase level4Oct 4, 2022
Renal insufficiency1Oct 4, 2022
Retinal atrophy1Oct 4, 2022
Retinal degeneration1Oct 4, 2022
Retinal dystrophy2Oct 4, 2022
Retinitis1Oct 4, 2022
Retinitis pigmentosa 11Oct 4, 2022
Retinitis pigmentosa 32Oct 4, 2022
Retinitis pigmentosa 393Mar 30, 2022
Rhabdomyoma2Oct 4, 2022
Rod-cone dystrophy4Oct 4, 2022
Rubinstein-Taybi syndrome due to CREBBP mutations1Mar 30, 2022
See cases399May 22, 2023
Seizure8Oct 4, 2022
Sensorineural hearing loss disorder1Oct 4, 2022
Severe early-childhood-onset retinal dystrophy2Mar 30, 2022
Sex reversal1Jun 14, 2022
Short stature2Oct 4, 2022
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
Skeletal dysplasia2Oct 4, 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
Stroke disorder48Oct 4, 2022
Succinyl-CoA acetoacetate transferase deficiency1Jun 14, 2022
Tay-Sachs disease1Jun 14, 2022
Thrombocytopenia1Jan 8, 2022
Tooth agenesis, selective, 11Apr 14, 2022
Tooth agenesis, selective, X-linked, 11Mar 30, 2022
Transient hyperlipidemia1May 4, 2022
Tremor1Jan 8, 2022
Trichohepatoenteric syndrome 12Mar 30, 2022
Tuberous sclerosis 11Apr 14, 2022
Usher syndrome type 2A1Mar 30, 2022
Uveal melanoma1Jan 8, 2022
Very long chain acyl-CoA dehydrogenase deficiency1Apr 14, 2022
Very long chain fatty acid accumulation2Jan 8, 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