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Victorian Clinical Genetics Services (Murdoch Childrens Research Institute), VCGS

General information

Victorian Clinical Genetics Services, VCGS
Murdoch Childrens Research Institute
50 Flemington Rd
Melbourne
Victoria
Australia - 3052
http://www.vcgs.org.au/pathology/
Organization ID: 500104

Personnel

View this laboratory in GTR

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 4310

Gene

GeneSubmissionsLast Updated
AAAS1Dec 21, 2022
AARS11Dec 21, 2022
AARS24Dec 21, 2022
ABCA123Dec 21, 2022
ABCA33Dec 21, 2022
ABCA427Dec 21, 2022
ABCB111Dec 21, 2022
ABCC65Dec 21, 2022
ABCC94Dec 21, 2022
ABCD14Dec 21, 2022
ABCG51Aug 3, 2022
ABCG81Aug 3, 2022
ABL11Aug 3, 2022
ACAD92Dec 21, 2022
ACADM4Dec 21, 2022
ACADS2Dec 21, 2022
ACADVL6Dec 21, 2022
ACAT11Dec 21, 2022
ACO22Dec 21, 2022
ACSL41Dec 21, 2022
ACTA23Dec 21, 2022
ACTA2-AS11Dec 21, 2022
ACTB6Dec 21, 2022
ACTC12Dec 21, 2022
ACTG12Dec 21, 2022
ACTG22Dec 21, 2022
ACTN11Dec 21, 2022
ACTN25Dec 21, 2022
ACTN41Dec 21, 2022
ACVRL18Dec 21, 2022
ADA1Aug 3, 2022
ADA21Dec 21, 2022
ADAMTS101Aug 3, 2022
ADAMTS21Dec 21, 2022
ADAMTSL22Dec 21, 2022
ADAMTSL41Dec 21, 2022
ADAMTSL4-AS21Dec 21, 2022
ADAR1Dec 21, 2022
ADAT31Aug 3, 2022
ADGRG12Dec 21, 2022
ADGRV12Aug 3, 2022
ADNP9Dec 21, 2022
AFF22Dec 21, 2022
AFF42Dec 21, 2022
AGK3Dec 21, 2022
AGL1Dec 21, 2022
AGO11Aug 3, 2022
AGPAT22Dec 21, 2022
AGXT3Dec 21, 2022
AHDC14Dec 21, 2022
AHI14Dec 21, 2022
AIFM12Dec 21, 2022
AK21Aug 3, 2022
AKAP91Aug 3, 2022
AKT11Dec 21, 2022
AKT31Aug 3, 2022
ALDH5A11Dec 21, 2022
ALDH6A11Aug 3, 2022
ALDH7A12Dec 21, 2022
ALDOB3Dec 21, 2022
ALG12Oct 1, 2019
ALG131Dec 21, 2022
ALG21Dec 21, 2022
ALG32Dec 21, 2022
ALG91Dec 21, 2022
ALMS17Dec 21, 2022
ALOXE32Dec 21, 2022
ALPK11Dec 21, 2022
ALPK319Dec 21, 2022
ALS23Dec 21, 2022
AMH1Dec 21, 2022
AMPD22Aug 30, 2020
ANK22Dec 21, 2022
ANKRD11Dec 21, 2022
ANKRD1127Dec 21, 2022
ANKRD171Dec 21, 2022
ANLN2Dec 21, 2022
ANO103Dec 21, 2022
ANO31Dec 21, 2022
ANO51Dec 21, 2022
AOPEP1Dec 21, 2022
AP1G11Dec 21, 2022
AP4B13Dec 21, 2022
AP4B1-AS13Dec 21, 2022
AP4M13Dec 21, 2022
AP4S11Aug 3, 2022
AP5Z14Dec 21, 2022
APC22Dec 21, 2022
APP3Aug 3, 2022
AR8Dec 21, 2022
ARCN11Dec 21, 2022
ARFGEF11Aug 3, 2022
ARFGEF22Dec 21, 2022
ARFGEF31Dec 21, 2022
ARHGAP291Dec 21, 2022
ARHGAP312Dec 21, 2022
ARHGAP351Aug 3, 2022
ARHGEF181Dec 21, 2022
ARID1A4Dec 21, 2022
ARID1B15Dec 21, 2022
ARID24Dec 21, 2022
ARL61Dec 21, 2022
ARMC92Dec 21, 2022
ARSA6Dec 21, 2022
ARSB1Dec 21, 2022
ARSL2Dec 21, 2022
ARX1Aug 3, 2022
ASH1L13Dec 21, 2022
ASL1Aug 3, 2022
ASNS1Aug 3, 2022
ASPA1Aug 3, 2022
ASPM13Dec 21, 2022
ASS12Dec 21, 2022
ASXL15Dec 21, 2022
ASXL22Dec 21, 2022
ASXL32Dec 21, 2022
ATL13Dec 21, 2022
ATL31Aug 3, 2022
ATM10Dec 21, 2022
ATP1A12Aug 3, 2022
ATP1A1-AS11Aug 3, 2022
ATP1A32Aug 3, 2022
ATP6AP22Dec 21, 2022
ATP6V0A21Aug 3, 2022
ATP6V1B13Dec 21, 2022
ATP6V1B21Dec 21, 2022
ATP7A7Dec 21, 2022
ATP7B10Dec 21, 2022
ATP8A21Dec 21, 2022
ATRIP2Nov 1, 2016
ATRIP-TREX12Nov 1, 2016
ATRX1Dec 21, 2022
ATXN7L3-AS11Dec 21, 2022
AUH1Aug 3, 2022
AUTS25Dec 21, 2022
AVP1Aug 3, 2022
AVPR24Dec 21, 2022
AXDND13Dec 21, 2022
B3GALNT22Dec 21, 2022
B3GALT61Dec 21, 2022
B4GALT71Dec 21, 2022
BAG35Dec 21, 2022
BAZ2B3Dec 21, 2022
BBOF11Aug 3, 2022
BBS11Dec 21, 2022
BBS103Dec 21, 2022
BBS22Aug 3, 2022
BBS72Dec 21, 2022
BBS92Dec 21, 2022
BCHE3Dec 21, 2022
BCKDHB2Dec 21, 2022
BCL11A2Dec 21, 2022
BCL11B4Dec 21, 2022
BCOR1Dec 21, 2022
BCORL15Dec 21, 2022
BCS1L3Dec 21, 2022
BGN2Dec 21, 2022
BICD21Aug 3, 2022
BICRA1Dec 21, 2022
BIVM-ERCC53Dec 21, 2022
BLOC1S1-RDH51Dec 21, 2022
BLTP15Dec 21, 2022
BMP21Aug 3, 2022
BMP41Dec 21, 2022
BMPR23Dec 21, 2022
BOLA31Oct 1, 2019
BPTF6Dec 21, 2022
BRAF3Dec 21, 2022
BRAT17Dec 21, 2022
BRCA12Dec 21, 2022
BRD42Aug 3, 2022
BRF11Dec 21, 2022
BRPF19Dec 21, 2022
BRWD32Dec 21, 2022
BTD2Dec 21, 2022
BTK3Aug 3, 2022
BUB1B2Dec 21, 2022
C10orf1051Dec 21, 2022
C11orf655Dec 21, 2022
C12orf291Aug 3, 2022
C12orf41Dec 21, 2022
C1QA1Dec 21, 2022
C1R2Dec 21, 2022
C2CD32Dec 21, 2022
CABP41Dec 21, 2022
CACNA1A16Dec 21, 2022
CACNA1C18Dec 21, 2022
CACNA1C-AS17Dec 21, 2022
CACNA1E4Dec 21, 2022
CACNA1F2Aug 3, 2022
CACNA1G4Dec 21, 2022
CACNA1H3Dec 21, 2022
CACNA2D11Dec 21, 2022
CACNA2D21Dec 21, 2022
CACNB22Dec 21, 2022
CAD3Dec 21, 2022
CALM21Dec 21, 2022
CALM31Dec 21, 2022
CALR31Dec 21, 2022
CAMK2A2Dec 21, 2022
CAMK2B3Dec 21, 2022
CAMTA12Dec 21, 2022
CAPN11Dec 21, 2022
CARD142Dec 21, 2022
CARD91Aug 3, 2022
CARS12Dec 21, 2022
CARS21Dec 21, 2022
CASK3Dec 21, 2022
CASQ21Dec 21, 2022
CASR2Dec 21, 2022
CBL1Aug 3, 2022
CBS4Dec 21, 2022
CC2D1A1Aug 3, 2022
CC2D2A9Dec 21, 2022
CCDC1151Dec 21, 2022
CCDC223Dec 21, 2022
CCDC392Dec 21, 2022
CCDC501Dec 21, 2022
CCDC651Dec 21, 2022
CCN62Dec 21, 2022
CCND22Dec 21, 2022
CCNF1Dec 21, 2022
CCNH5Dec 21, 2022
CD40LG1Aug 3, 2022
CDAN12Dec 21, 2022
CDH11Dec 21, 2022
CDH238Dec 21, 2022
CDK135Dec 21, 2022
CDK191Dec 21, 2022
CDK82Dec 21, 2022
CDKL56Dec 21, 2022
CDON2Dec 21, 2022
CENPE1Dec 21, 2022
CEP1042Dec 21, 2022
CEP1351Dec 21, 2022
CEP2906Dec 21, 2022
CEP85L2Dec 21, 2022
CERKL2Dec 21, 2022
CERS12Dec 21, 2022
CFAP4101Dec 21, 2022
CFTR1Oct 1, 2019
CFTR-AS11Oct 1, 2019
CHAT2Dec 21, 2022
CHD14Dec 21, 2022
CHD26Dec 21, 2022
CHD38Dec 21, 2022
CHD411Dec 21, 2022
CHD53Dec 21, 2022
CHD714Dec 21, 2022
CHD810Dec 21, 2022
CHM5Dec 21, 2022
CHRDL12Aug 3, 2022
CHRNA41Aug 3, 2022
CHST31Aug 3, 2022
CIC9Dec 21, 2022
CIT2Dec 21, 2022
CITED21Dec 21, 2022
CKAP2L2Dec 21, 2022
CLASP11Dec 21, 2022
CLCN42Dec 21, 2022
CLCN59Dec 21, 2022
CLCN62Dec 21, 2022
CLCN71Nov 9, 2017
CLCNKB2Dec 21, 2022
CLDN141Dec 21, 2022
CLDN14-AS11Dec 21, 2022
CLDN161Aug 30, 2020
CLDN191Dec 21, 2022
CLN32Dec 21, 2022
CLTC3Dec 21, 2022
CNGA32Dec 21, 2022
CNGB34Dec 21, 2022
CNKSR11Dec 21, 2022
CNKSR21Dec 21, 2022
CNOT13Dec 21, 2022
CNOT21Dec 21, 2022
CNOT33Dec 21, 2022
CNPY31Dec 21, 2022
CNPY3-GNMT1Dec 21, 2022
CNTNAP23Dec 21, 2022
COASY1Dec 21, 2022
COCH1Aug 15, 2019
COG61Dec 21, 2022
COG82Dec 21, 2022
COL10A11Aug 3, 2022
COL12A12Dec 21, 2022
COL13A12Aug 3, 2022
COL1A117Dec 21, 2022
COL1A21Nov 1, 2016
COL25A12Aug 3, 2022
COL27A11Dec 21, 2022
COL2A120Dec 21, 2022
COL4A114Dec 21, 2022
COL4A23Dec 21, 2022
COL4A2-AS12Dec 21, 2022
COL4A2-AS21Dec 21, 2022
COL4A38Aug 30, 2020
COL4A412Aug 30, 2020
COL4A523Dec 21, 2022
COL4A61Aug 3, 2022
COL5A17Dec 21, 2022
COL5A24Dec 21, 2022
COL6A31Dec 21, 2022
COL7A12Nov 9, 2017
COL9A13Dec 21, 2022
COLQ2Aug 3, 2022
COQ72Dec 21, 2022
COX153Dec 21, 2022
CPLANE17Dec 21, 2022
CPS15Dec 21, 2022
CPT1C1Aug 3, 2022
CPT22Dec 21, 2022
CREBBP9Dec 21, 2022
CRPPA3Dec 21, 2022
CRPPA-AS11Dec 21, 2022
CRTAP2Dec 21, 2022
CRYAB1Oct 1, 2019
CRYGS1Dec 21, 2022
CRYM1Dec 21, 2022
CSDE11Dec 21, 2022
CSF3R1Dec 21, 2022
CSGALNACT11Dec 21, 2022
CSNK2A12Dec 21, 2022
CSNK2B2Dec 21, 2022
CSRP33Dec 21, 2022
CTC12Dec 21, 2022
CTCF5Dec 21, 2022
CTDP11Dec 21, 2022
CTNNA21Dec 21, 2022
CTNNA32Dec 21, 2022
CTNNB19Dec 21, 2022
CTNND21Dec 21, 2022
CTSA1Dec 21, 2022
CUBN7Dec 21, 2022
CUL33Dec 21, 2022
CUL4B4Dec 21, 2022
CUX11Dec 21, 2022
CUX23Dec 21, 2022
CYBB2Dec 21, 2022
CYP11A11Dec 21, 2022
CYP1B14Dec 21, 2022
CYP21A25Dec 21, 2022
CYP27A12Dec 21, 2022
CYP2U12Dec 21, 2022
CYP4V21Dec 21, 2022
CYP7B11Dec 21, 2022
CZ1P-ASNS1Aug 3, 2022
D2HGDH2Dec 21, 2022
DAG12Dec 21, 2022
DARS12Nov 9, 2017
DARS23Dec 21, 2022
DCX3Dec 21, 2022
DDB11Aug 3, 2022
DDC4Dec 21, 2022
DDHD11Aug 3, 2022
DDHD21Aug 3, 2022
DDX114Dec 21, 2022
DDX231Dec 21, 2022
DDX3X2Dec 21, 2022
DDX61Aug 3, 2022
DEPDC57Dec 21, 2022
DHCR74Dec 21, 2022
DHH1Dec 21, 2022
DHX161Dec 21, 2022
DHX301Dec 21, 2022
DIP2B1Dec 21, 2022
DIPK1A2Dec 21, 2022
DIS3L22Dec 21, 2022
DKC11Dec 21, 2022
DLD1Dec 21, 2022
DLG33Dec 21, 2022
DLG3-AS11Dec 21, 2022
DLG45Dec 21, 2022
DLL11Dec 21, 2022
DMD13Dec 21, 2022
DMXL21Aug 3, 2022
DNAH116Dec 21, 2022
DNAH55Dec 21, 2022
DNAH92Aug 3, 2022
DNAI12Dec 21, 2022
DNAJB111Dec 21, 2022
DNAJB131Dec 21, 2022
DNAJC212Dec 21, 2022
DNM11Dec 21, 2022
DNMBP1Aug 3, 2022
DNMBP-AS11Aug 3, 2022
DNMT13Dec 21, 2022
DNMT3A7Dec 21, 2022
DOK71Dec 21, 2022
DONSON2Dec 21, 2022
DPF21Dec 21, 2022
DPM11Dec 21, 2022
DPYD8Dec 21, 2022
DPYD-AS12Dec 21, 2022
DSG1-AS11Dec 21, 2022
DSG21Dec 21, 2022
DSG41Dec 21, 2022
DST1Dec 21, 2022
DTNA1Aug 3, 2022
DUOXA21Dec 21, 2022
DVL13Dec 21, 2022
DYNC1H17Dec 21, 2022
DYNC2H17Dec 21, 2022
DYNC2LI13Dec 21, 2022
DYRK1A4Dec 21, 2022
DYSF3Dec 21, 2022
EARS22Dec 21, 2022
EBF33Dec 21, 2022
EBP1Aug 3, 2022
ECEL13Dec 21, 2022
ECHS110Dec 21, 2022
EDA1Dec 21, 2022
EED1Aug 3, 2022
EEF1A23Dec 21, 2022
EEF1D2Dec 21, 2022
EEF22Dec 21, 2022
EFEMP22Dec 21, 2022
EFL11Dec 21, 2022
EFNB11Dec 21, 2022
EFTUD25Dec 21, 2022
EHMT17Dec 21, 2022
EIF2B11Dec 21, 2022
EIF2B24Dec 21, 2022
EIF2B31Dec 21, 2022
EIF2B43Dec 21, 2022
EIF2B52Dec 21, 2022
ELAC22Dec 21, 2022
ELN3Dec 21, 2022
ELN-AS12Dec 21, 2022
ELOVL51Dec 21, 2022
ELP22Dec 21, 2022
EMC14Dec 21, 2022
EMC1-AS14Dec 21, 2022
EMD1Dec 21, 2022
EME21Dec 21, 2022
EML12Dec 21, 2022
ENG13Dec 21, 2022
ENO32Dec 21, 2022
ENPP12Oct 1, 2019
EP3006Dec 21, 2022
EPAS12Dec 21, 2022
EPB41L11Dec 21, 2022
EPHA21Dec 21, 2022
EPHB49Dec 21, 2022
EPRS12Dec 21, 2022
ERCC12Sep 16, 2020
ERCC22Dec 21, 2022
ERCC32Dec 21, 2022
ERCC42Dec 21, 2022
ERCC53Dec 21, 2022
ERCC62Dec 21, 2022
ERCC81Aug 3, 2022
ESPN1Dec 21, 2022
ESRRB1Dec 21, 2022
ETFA2Dec 21, 2022
ETFB1Dec 21, 2022
ETFDH3Dec 21, 2022
ETHE12Dec 21, 2022
ETV62Aug 3, 2022
EXOC71Dec 21, 2022
EXOSC31Dec 21, 2022
EXPH51Dec 21, 2022
EXT11Dec 21, 2022
EYA12Dec 21, 2022
EYA41Dec 21, 2022
EYS3Dec 21, 2022
EZH22Dec 21, 2022
F13B1Aug 3, 2022
F88Dec 21, 2022
F91Dec 21, 2022
FA2H2Dec 21, 2022
FAM111A3Dec 21, 2022
FAM20A1Dec 21, 2022
FAN14Dec 21, 2022
FANCA3Dec 21, 2022
FANCB1Aug 3, 2022
FANCC2Dec 21, 2022
FANCD21Dec 21, 2022
FANCG1Dec 21, 2022
FAT13Aug 3, 2022
FAT43Dec 21, 2022
FBN125Dec 21, 2022
FBN215Dec 21, 2022
FBXL43Dec 21, 2022
FBXO112Dec 21, 2022
FBXW71Aug 3, 2022
FDFT11Dec 21, 2022
FDXR3Dec 21, 2022
FECH2Dec 21, 2022
FGD12Dec 21, 2022
FGF101Dec 21, 2022
FGF31Dec 21, 2022
FGF91Dec 21, 2022
FGFR12Dec 21, 2022
FGFR22Dec 21, 2022
FHOD310Dec 21, 2022
FKBP101Dec 21, 2022
FKRP3Dec 21, 2022
FKTN3Dec 21, 2022
FLCN2Dec 21, 2022
FLG3Dec 21, 2022
FLII1Aug 3, 2022
FLNA3Dec 21, 2022
FLNC35Dec 21, 2022
FLNC-AS113Dec 21, 2022
FLT42Dec 21, 2022
FMN23Dec 21, 2022
FMO31Aug 3, 2022
FN14Dec 21, 2022
FOLR11Aug 3, 2022
FOXC11Dec 21, 2022
FOXC21Dec 21, 2022
FOXC2-AS11Dec 21, 2022
FOXG12Dec 21, 2022
FOXL22Dec 21, 2022
FOXP114Dec 21, 2022
FOXP23Dec 21, 2022
FOXP31Dec 21, 2022
FOXRED13Dec 21, 2022
FPGT-TNNI3K2Dec 21, 2022
FREM21Dec 21, 2022
FRMPD41Dec 21, 2022
FSCN21Dec 21, 2022
FTCD1Dec 21, 2022
FTCD-AS11Dec 21, 2022
FZD21Dec 21, 2022
FZD42Dec 21, 2022
G6PD5Dec 21, 2022
GAA6Dec 21, 2022
GABBR21Dec 21, 2022
GABRA51Aug 3, 2022
GABRB11Dec 21, 2022
GABRB23Dec 21, 2022
GABRB32Dec 21, 2022
GABRD2Dec 21, 2022
GABRG22Dec 21, 2022
GALC5Dec 21, 2022
GALNT32Aug 3, 2022
GALT2Dec 21, 2022
GAMT1Dec 21, 2022
GANAB3Dec 21, 2022
GAS2L21Aug 3, 2022
GATA36Dec 21, 2022
GATA46Dec 21, 2022
GATA63Dec 21, 2022
GATAD13Dec 21, 2022
GATAD2B1Dec 21, 2022
GBA14Dec 21, 2022
GBE12Dec 21, 2022
GBF11Aug 3, 2022
GCDH2Dec 21, 2022
GDF12Dec 21, 2022
GDF91Dec 21, 2022
GFAP9Dec 21, 2022
GFER3Dec 21, 2022
GFM21Dec 21, 2022
GIGYF11Aug 3, 2022
GJA81Aug 3, 2022
GJB12Dec 21, 2022
GJB211Dec 21, 2022
GJB61Aug 3, 2022
GJD2-DT2Dec 21, 2022
GLA6Dec 21, 2022
GLB17Dec 21, 2022
GLDC3Dec 21, 2022
GLDN1Oct 1, 2019
GLI22Dec 21, 2022
GLI35Dec 21, 2022
GLMN2Dec 21, 2022
GLRX51Dec 21, 2022
GLS1Dec 21, 2022
GM2A1Aug 3, 2022
GNAI11Aug 3, 2022
GNAL1Dec 21, 2022
GNAO13Dec 21, 2022
GNAT21Aug 3, 2022
GNB13Dec 21, 2022
GNB21Dec 21, 2022
GNB41Dec 21, 2022
GNRHR3Dec 21, 2022
GPAA12Dec 21, 2022
GPC31Aug 3, 2022
GPC41Dec 21, 2022
GPC61Dec 21, 2022
GPD1L1Dec 21, 2022
GPR1431Dec 21, 2022
GPR1791Dec 21, 2022
GPR681Dec 21, 2022
GPSM21Dec 21, 2022
GPT24Dec 21, 2022
GRHPR2Dec 21, 2022
GRIA11Aug 3, 2022
GRIA21Dec 21, 2022
GRIA31Dec 21, 2022
GRIK21Oct 1, 2019
GRIN2A3Dec 21, 2022
GRIN2B4Dec 21, 2022
GRXCR11Aug 3, 2022
GSC1Aug 3, 2022
GTF3C2-AS21Aug 3, 2022
GTF3C31Aug 3, 2022
GTPBP34Aug 3, 2022
GUCA1A1Aug 3, 2022
GUCA1ANB-GUCA1A1Aug 3, 2022
GUSB2Dec 21, 2022
GYS24Dec 21, 2022
H4C32Dec 21, 2022
H4C51Aug 3, 2022
HADH2Dec 21, 2022
HAFML1Dec 21, 2022
HARS21Dec 21, 2022
HBA-LCR2Dec 21, 2022
HBB1Dec 21, 2022
HCFC14Dec 21, 2022
HCN11Dec 21, 2022
HCN41Dec 21, 2022
HDAC42Dec 21, 2022
HDAC82Aug 30, 2020
HECW29Dec 21, 2022
HERC12Dec 21, 2022
HERC22Dec 21, 2022
HEXA7Dec 21, 2022
HEXB2Dec 21, 2022
HFE1Dec 21, 2022
HFE-AS11Dec 21, 2022
HGSNAT2Dec 21, 2022
HIVEP24Dec 21, 2022
HJV2Dec 21, 2022
HLCS2Dec 21, 2022
HMBS1Dec 21, 2022
HMGCL1Dec 21, 2022
HMGCS24Dec 21, 2022
HNF1A2Dec 21, 2022
HNF1B15Dec 21, 2022
HNRNPH21Dec 21, 2022
HNRNPK2Dec 21, 2022
HNRNPU3Dec 21, 2022
HOGA11Dec 21, 2022
HOXA131Dec 21, 2022
HPRT11Dec 21, 2022
HPS52Dec 21, 2022
HRAS4Dec 21, 2022
HSD17B101Oct 1, 2019
HSD17B31Dec 21, 2022
HSD17B43Dec 21, 2022
HSPB11Aug 3, 2022
HSPB81Dec 21, 2022
HSPG22Dec 21, 2022
HUWE114Dec 21, 2022
HYLS12Dec 21, 2022
IARS13Dec 21, 2022
IBA573Dec 21, 2022
IDH21Dec 21, 2022
IDS2Dec 21, 2022
IDUA1Dec 21, 2022
IFITM51Dec 21, 2022
IFT1724Dec 21, 2022
IGHMBP23Dec 21, 2022
IKBKG3Dec 21, 2022
IL2RG1Aug 3, 2022
IMPDH11Dec 21, 2022
INF25Dec 21, 2022
INPP5E2Dec 21, 2022
INSL31Dec 21, 2022
INTS16Dec 21, 2022
IQSEC12Dec 21, 2022
IQSEC29Dec 21, 2022
IRAK1BP11Dec 21, 2022
IREB22Oct 1, 2019
IRF2BPL6Dec 21, 2022
ITPA1Dec 21, 2022
ITSN11Dec 21, 2022
JAG16Dec 21, 2022
JMJD1C1Aug 3, 2022
JPH24Dec 21, 2022
KANSL13Dec 21, 2022
KAT6A10Dec 21, 2022
KAT6B5Dec 21, 2022
KAT81Aug 3, 2022
KBTBD131Aug 3, 2022
KCNA11Dec 21, 2022
KCNA21Aug 3, 2022
KCNA51Dec 21, 2022
KCNB15Dec 21, 2022
KCNC31Aug 3, 2022
KCND33Dec 21, 2022
KCNE23Dec 21, 2022
KCNH13Dec 21, 2022
KCNH231Dec 21, 2022
KCNJ15Dec 21, 2022
KCNJ23Dec 21, 2022
KCNJ51Dec 21, 2022
KCNJ82Dec 21, 2022
KCNK181Dec 21, 2022
KCNN21Aug 3, 2022
KCNQ13Dec 21, 2022
KCNQ211Dec 21, 2022
KCNQ42Dec 21, 2022
KCNT13Dec 21, 2022
KCNT22Dec 21, 2022
KCTD72Aug 3, 2022
KDM1A6Dec 21, 2022
KDM5C6Dec 21, 2022
KDM6A8Dec 21, 2022
KDM6B3Dec 21, 2022
KIAA05863Dec 21, 2022
KIDINS2203Dec 21, 2022
KIF114Dec 21, 2022
KIF142Dec 21, 2022
KIF1C1Dec 21, 2022
KIF21A1Dec 21, 2022
KIF21B2Aug 3, 2022
KIF222Dec 21, 2022
KIF5A1Dec 21, 2022
KIF5C2Dec 21, 2022
KIF71Aug 3, 2022
KIRREL21Dec 21, 2022
KLF71Aug 3, 2022
KLF9-DT1Aug 3, 2022
KLHL401Dec 21, 2022
KMT2A18Dec 21, 2022
KMT2B2Dec 21, 2022
KMT2C12Dec 21, 2022
KMT2D23Dec 21, 2022
KMT2E4Dec 21, 2022
KMT5B2Dec 21, 2022
KPTN3Dec 21, 2022
KRAS2Dec 21, 2022
KRIT15Dec 21, 2022
KRT13Dec 21, 2022
KRT171Dec 21, 2022
KRT6A1Dec 21, 2022
KRTCAP31Aug 30, 2020
L1CAM4Dec 21, 2022
L2HGDH1Dec 21, 2022
LAMA15Dec 21, 2022
LAMA24Dec 21, 2022
LAMA43Dec 21, 2022
LAMB11Dec 21, 2022
LAMC22Aug 3, 2022
LAMP23Dec 21, 2022
LARP73Dec 21, 2022
LARS12Aug 3, 2022
LARS23Dec 21, 2022
LARS2-AS12Dec 21, 2022
LAS1L4Dec 21, 2022
LBR1Nov 1, 2016
LDB36Dec 21, 2022
LDLR5Dec 21, 2022
LEMD31Aug 3, 2022
LHB1Dec 21, 2022
LHFPL51Dec 21, 2022
LIG31Aug 3, 2022
LINS12Dec 21, 2022
LIPT12Dec 21, 2022
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OTOA2Dec 21, 2022
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OXR11Dec 21, 2022
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PCYT1A1Dec 21, 2022
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PDYN1Dec 21, 2022
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PEX17Dec 21, 2022
PEX101Dec 21, 2022
PEX11B1Dec 21, 2022
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PFN12Dec 21, 2022
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PGK13Dec 21, 2022
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PIGN4Aug 3, 2022
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PKHD158Dec 21, 2022
PKP213Dec 21, 2022
PLA2G62Dec 21, 2022
PLAA1Dec 21, 2022
PLCE13Dec 21, 2022
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PLN1Aug 3, 2022
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PLP11Aug 3, 2022
PLPBP4Dec 21, 2022
PLS31Aug 3, 2022
PMM28Dec 21, 2022
PMPCB3Dec 21, 2022
PNKD1Dec 21, 2022
PNKP2Dec 21, 2022
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POLE2Dec 21, 2022
POLG1Oct 1, 2019
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POLR3A3Dec 21, 2022
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POR3Dec 21, 2022
PORCN1Aug 3, 2022
POU3F42Dec 21, 2022
POU4F32Dec 21, 2022
PPA25Dec 21, 2022
PPIP5K21Aug 3, 2022
PPM1D1Dec 21, 2022
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PPP1CB2Dec 21, 2022
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PPT11Dec 21, 2022
PQBP11Aug 3, 2022
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PRF11Dec 21, 2022
PRKACB1Dec 21, 2022
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PRKCG1Aug 3, 2022
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PRKD12Dec 21, 2022
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PRR122Aug 3, 2022
PRRT25Dec 21, 2022
PRX1Dec 21, 2022
PSAT12Dec 21, 2022
PSEN14Dec 21, 2022
PSTPIP11Dec 21, 2022
PTCH16Dec 21, 2022
PTCHD1-AS2Dec 21, 2022
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PTPN233Dec 21, 2022
PTPN41Dec 21, 2022
PUF608Dec 21, 2022
PURA7Dec 21, 2022
PUS32Dec 21, 2022
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PYGM4Dec 21, 2022
QARS12Dec 21, 2022
QRICH12Dec 21, 2022
QRSL11Aug 3, 2022
RAB11B2Dec 21, 2022
RAB33A2Dec 21, 2022
RAB3GAP24Dec 21, 2022
RAB9B1Aug 3, 2022
RAC11Aug 3, 2022
RAC31Dec 21, 2022
RAD211Dec 21, 2022
RAD51D1Dec 21, 2022
RAD51L3-RFFL1Dec 21, 2022
RAF17Dec 21, 2022
RAG21Dec 21, 2022
RAI13Dec 21, 2022
RANBP21Dec 21, 2022
RAPSN3Dec 21, 2022
RARB1Oct 1, 2019
RARS13Dec 21, 2022
RARS25Dec 21, 2022
RASA15Dec 21, 2022
RB12Dec 21, 2022
RBBP82Dec 21, 2022
RBFOX21Dec 21, 2022
RBM104Dec 21, 2022
RBM208Dec 21, 2022
RBPJ1Dec 21, 2022
RDH51Dec 21, 2022
RECQL44Dec 21, 2022
REEP11Dec 21, 2022
RERE6Dec 21, 2022
RET5Dec 21, 2022
RFT11Aug 3, 2022
RHOBTB23Dec 21, 2022
RIC11Dec 21, 2022
RIF15Dec 21, 2022
RIMS11Dec 21, 2022
RIT14Dec 21, 2022
RNASEH2A2Dec 21, 2022
RNASEH2B1Dec 21, 2022
RNASEH2C3Dec 21, 2022
RNF1251Dec 21, 2022
RNF131Dec 21, 2022
RNF144Dec 21, 2022
RNF2131Oct 1, 2019
RNF213-AS11Oct 1, 2019
RNF2161Dec 21, 2022
RNU4ATAC1Dec 21, 2022
ROBO33Dec 21, 2022
ROBO42Dec 21, 2022
RORB1Aug 3, 2022
RP21Dec 21, 2022
RPGRIP13Dec 21, 2022
RPGRIP1L2Dec 21, 2022
RPL151Oct 1, 2019
RPL36A-HNRNPH27Dec 21, 2022
RPL3L1Aug 3, 2022
RPL52Dec 21, 2022
RPS6KA31Dec 21, 2022
RRAS1Dec 21, 2022
RRAS21Dec 21, 2022
RS12Dec 21, 2022
RSPH4A1Dec 21, 2022
RTN4IP11Aug 3, 2022
RTTN4Dec 21, 2022
RUNX22Dec 21, 2022
RXYLT11Dec 21, 2022
RYR11Oct 1, 2019
RYR219Dec 21, 2022
SACS4Dec 21, 2022
SAG1Aug 3, 2022
SALL12Dec 21, 2022
SALL42Dec 21, 2022
SAMD95Dec 21, 2022
SAMHD11Dec 21, 2022
SASH31Aug 3, 2022
SATB11Dec 21, 2022
SATB26Dec 21, 2022
SBDS2Dec 21, 2022
SBF12Dec 21, 2022
SCAF42Dec 21, 2022
SCAMP41Aug 3, 2022
SCN11A2Dec 21, 2022
SCN1A16Dec 21, 2022
SCN1B1Dec 21, 2022
SCN2A11Dec 21, 2022
SCN3A4Dec 21, 2022
SCN4B1Dec 21, 2022
SCN5A2Dec 21, 2022
SCN8A7Dec 21, 2022
SCO22Dec 21, 2022
SDCCAG81Aug 3, 2022
SDHA2Aug 30, 2020
SDHAF12Dec 21, 2022
SEC23B3Dec 21, 2022
SEC61A11Dec 21, 2022
SEC633Dec 21, 2022
SERPINA13Dec 21, 2022
SETBP16Dec 21, 2022
SETD1A1Dec 21, 2022
SETD1B6Dec 21, 2022
SETD28Dec 21, 2022
SETD58Dec 21, 2022
SFTA31Dec 21, 2022
SGPL11Aug 3, 2022
SGSH4Dec 21, 2022
SH2B31Dec 21, 2022
SH2D1A1Dec 21, 2022
SHANK23Dec 21, 2022
SHANK31Dec 21, 2022
SHH1Dec 21, 2022
SHOC21Dec 21, 2022
SHROOM41Aug 3, 2022
SIGMAR12Aug 3, 2022
SIM11Aug 3, 2022
SIN3A3Dec 21, 2022
SIX11Dec 21, 2022
SKI4Dec 21, 2022
SKIC21Dec 21, 2022
SKIC31Dec 21, 2022
SLC12A11Dec 21, 2022
SLC12A313Dec 21, 2022
SLC16A21Dec 21, 2022
SLC17A52Dec 21, 2022
SLC18A21Dec 21, 2022
SLC19A32Nov 1, 2016
SLC1A31Dec 21, 2022
SLC20A24Dec 21, 2022
SLC22A51Aug 3, 2022
SLC25A121Dec 21, 2022
SLC25A132Dec 21, 2022
SLC26A420Dec 21, 2022
SLC26A4-AS11Aug 3, 2022
SLC2A13Dec 21, 2022
SLC2A101Aug 3, 2022
SLC30A21Dec 21, 2022
SLC34A11Aug 30, 2020
SLC35A21Dec 21, 2022
SLC37A42Aug 3, 2022
SLC39A81Dec 21, 2022
SLC52A24Dec 21, 2022
SLC52A31Dec 21, 2022
SLC5A62Dec 21, 2022
SLC6A14Dec 21, 2022
SLC6A1-AS11Dec 21, 2022
SLC6A91Aug 3, 2022
SLX42Dec 21, 2022
SMAD22Dec 21, 2022
SMAD36Dec 21, 2022
SMAD45Dec 21, 2022
SMAD62Dec 21, 2022
SMARCA29Dec 21, 2022
SMARCA44Dec 21, 2022
SMARCAL12Dec 21, 2022
SMARCB12Dec 21, 2022
SMARCD12Dec 21, 2022
SMC1A5Dec 21, 2022
SMC31Dec 21, 2022
SMCHD11Dec 21, 2022
SMN15Dec 21, 2022
SMN21Dec 21, 2022
SMO1Dec 21, 2022
SMPD43Dec 21, 2022
SNCA1Aug 3, 2022
SNHG222Aug 3, 2022
SNHG311Dec 21, 2022
SON9Dec 21, 2022
SORD2Dec 21, 2022
SOS17Dec 21, 2022
SOS23Dec 21, 2022
SOX112Dec 21, 2022
SOX31Dec 21, 2022
SOX52Dec 21, 2022
SOX63Dec 21, 2022
SOX92Aug 3, 2022
SPAST15Dec 21, 2022
SPATA221Aug 3, 2022
SPATA53Dec 21, 2022
SPATA5L11Aug 3, 2022
SPATA72Dec 21, 2022
SPEG1Dec 21, 2022
SPEN3Dec 21, 2022
SPG1112Dec 21, 2022
SPG211Dec 21, 2022
SPG71Dec 21, 2022
SPINK52Oct 1, 2019
SPRED12Dec 21, 2022
SPTAN15Dec 21, 2022
SPTB2Oct 1, 2019
SPTBN13Dec 21, 2022
SPTBN42Dec 21, 2022
SRCAP3Dec 21, 2022
SRD5A25Dec 21, 2022
SRD5A31Aug 3, 2022
SRD5A3-AS11Aug 3, 2022
SRFBP11Dec 21, 2022
SRPX21Aug 3, 2022
SSR42Dec 21, 2022
STAG13Dec 21, 2022
STAG21Dec 21, 2022
STAT11Nov 1, 2016
STRC1Aug 15, 2019
STX111Dec 21, 2022
STXBP111Dec 21, 2022
SUCLG11Dec 21, 2022
SURF11Aug 3, 2022
SUZ121Aug 3, 2022
SYNE21Dec 21, 2022
SYNGAP19Dec 21, 2022
SYNGAP1-AS16Dec 21, 2022
SYP1Aug 3, 2022
SZT24Dec 21, 2022
SZT2-AS11Dec 21, 2022
TAB21Dec 21, 2022
TAF13Dec 21, 2022
TAF23Dec 21, 2022
TAFAZZIN4Dec 21, 2022
TANC23Dec 21, 2022
TANGO22Aug 3, 2022
TAOK14Dec 21, 2022
TAPBPL1Dec 21, 2022
TARID1Dec 21, 2022
TARS22Dec 21, 2022
TBC1D11Aug 3, 2022
TBC1D7-LOC1001303571Aug 3, 2022
TBCD8Dec 21, 2022
TBCE1Dec 21, 2022
TBCEL-TECTA3Dec 21, 2022
TBCK1Dec 21, 2022
TBK12Dec 21, 2022
TBL1XR13Dec 21, 2022
TBL1XR1-AS12Dec 21, 2022
TBR11Aug 3, 2022
TBX11Aug 3, 2022
TBX201Aug 3, 2022
TBX54Dec 21, 2022
TCF121Dec 21, 2022
TCF205Dec 21, 2022
TCF48Dec 21, 2022
TCOF15Dec 21, 2022
TCTN12Dec 21, 2022
TCTN33Dec 21, 2022
TECRL4Dec 21, 2022
TECTA3Dec 21, 2022
TELO22Dec 21, 2022
TENM31Aug 3, 2022
TET21Aug 3, 2022
TET2-AS11Aug 3, 2022
TFAP2A1Dec 21, 2022
TFAP2B1Dec 21, 2022
TFR21Dec 21, 2022
TGFB24Dec 21, 2022
TGFBR19Dec 21, 2022
TGFBR23Dec 21, 2022
TGIF11Dec 21, 2022
TGM51Dec 21, 2022
TH2Dec 21, 2022
THAP12Dec 21, 2022
THOC21Dec 21, 2022
THOC64Dec 21, 2022
THSD42Aug 3, 2022
TINF22Aug 3, 2022
TJP22Dec 21, 2022
TK22Dec 21, 2022
TLK23Dec 21, 2022
TLL12Dec 21, 2022
TMEM106B1Dec 21, 2022
TMEM1381Dec 21, 2022
TMEM2372Aug 3, 2022
TMEM2401Dec 21, 2022
TMEM2601Dec 21, 2022
TMEM4311Dec 21, 2022
TMEM63A1Aug 3, 2022
TMEM673Aug 3, 2022
TMPPE1Dec 21, 2022
TMPRSS31Dec 21, 2022
TNC1Dec 21, 2022
TNFRSF1A1Dec 21, 2022
TNK21Dec 21, 2022
TNNI21Dec 21, 2022
TNNI33Dec 21, 2022
TNNI3K2Dec 21, 2022
TNNT214Dec 21, 2022
TNPO31Dec 21, 2022
TNR2Dec 21, 2022
TNRC6B4Dec 21, 2022
TNS21Aug 3, 2022
TNXB2Dec 21, 2022
TOMT1Dec 21, 2022
TONSL2Dec 21, 2022
TOP3A3Dec 21, 2022
TOPORS1Dec 21, 2022
TP53RK2Dec 21, 2022
TPM19Dec 21, 2022
TPM1-AS1Dec 21, 2022
TPO1Dec 21, 2022
TPP14Dec 21, 2022
TPP21Aug 3, 2022
TPRN1Dec 21, 2022
TRAF72Aug 3, 2022
TRAPPC122Dec 21, 2022
TRAPPC41Dec 21, 2022
TRAPPC6B1Dec 21, 2022
TRAPPC95Dec 21, 2022
TRDN3Dec 21, 2022
TREX12Nov 1, 2016
TRIM633Dec 21, 2022
TRIM82Dec 21, 2022
TRIO11Dec 21, 2022
TRIOBP2Dec 21, 2022
TRIP111Dec 21, 2022
TRIP125Dec 21, 2022
TRIP132Dec 21, 2022
TRPM33Dec 21, 2022
TRPM41Aug 3, 2022
TRPS15Dec 21, 2022
TRPV41Dec 21, 2022
TRRAP11Dec 21, 2022
TSC13Dec 21, 2022
TSC210Dec 21, 2022
TSEN541Aug 3, 2022
TSFM3Dec 21, 2022
TSPAN14Dec 21, 2022
TSPAN121Aug 3, 2022
TSPEAR2Dec 21, 2022
TSPEAR-AS11Dec 21, 2022
TSPOAP11Aug 3, 2022
TTC21B1Dec 21, 2022
TTC36-AS11Dec 21, 2022
TTC7A6Aug 3, 2022
TTI21Aug 3, 2022
TTN1Nov 9, 2017
TTN-AS11Nov 9, 2017
TTR1Aug 3, 2022
TUBA1A6Dec 21, 2022
TUBB2Dec 21, 2022
TUBB33Dec 21, 2022
TUBB4A1Dec 21, 2022
TUBGCP66Dec 21, 2022
TWIST12Dec 21, 2022
TXNDC151Dec 21, 2022
TYMP4Dec 21, 2022
TYR6Dec 21, 2022
UBA11Aug 3, 2022
UBE2A1Dec 21, 2022
UBE3B2Dec 21, 2022
UBQLN21Dec 21, 2022
UBR11Dec 21, 2022
UBTF1Dec 21, 2022
UCHL11Dec 21, 2022
UGDH2Dec 21, 2022
UMOD7Dec 21, 2022
UNC806Dec 21, 2022
UPF3B2Aug 3, 2022
UROS1Dec 21, 2022
USB11Dec 21, 2022
USH1C4Dec 21, 2022
USH2A21Dec 21, 2022
USH2A-AS13Dec 21, 2022
USH2A-AS23Dec 21, 2022
USP27X1Dec 21, 2022
USP532Dec 21, 2022
USP71Dec 21, 2022
USP9X3Aug 3, 2022
VAC141Dec 21, 2022
VAMP11Dec 21, 2022
VARS22Dec 21, 2022
VCAN1Aug 3, 2022
VCL6Dec 21, 2022
VCP1Dec 21, 2022
VEGFC1Dec 21, 2022
VIM1Aug 3, 2022
VIM-AS11Aug 3, 2022
VIPAS391Dec 21, 2022
VLDLR1Aug 3, 2022
VPS112Dec 21, 2022
VPS13B7Dec 21, 2022
VPS13C2Dec 21, 2022
VPS13D5Dec 21, 2022
VPS37A1Dec 21, 2022
WAC1Aug 3, 2022
WARS21Dec 21, 2022
WAS2Aug 3, 2022
WASF11Dec 21, 2022
WDFY35Dec 21, 2022
WDR112Dec 21, 2022
WDR261Aug 3, 2022
WDR352Dec 21, 2022
WDR371Dec 21, 2022
WDR41Dec 21, 2022
WDR451Dec 21, 2022
WDR626Dec 21, 2022
WNT7A1Aug 3, 2022
WWOX1Dec 21, 2022
XDH1Aug 3, 2022
XPA2Dec 21, 2022
YWHAG1Aug 3, 2022
ZBTB184Dec 21, 2022
ZBTB202Dec 21, 2022
ZBTB241Dec 21, 2022
ZC4H22Dec 21, 2022
ZDHHC241Dec 21, 2022
ZDHHC92Dec 21, 2022
ZEB23Dec 21, 2022
ZFHX36Dec 21, 2022
ZFHX3-AS15Dec 21, 2022
ZFHX43Dec 21, 2022
ZFYVE268Dec 21, 2022
ZIC22Dec 21, 2022
ZIC33Dec 21, 2022
ZMIZ13Dec 21, 2022
ZMYND101Dec 21, 2022
ZNF1421Dec 21, 2022
ZNF2928Dec 21, 2022
ZNF3354Dec 21, 2022
ZNF4623Dec 21, 2022
ZNF4691Dec 21, 2022
ZNF6871Aug 3, 2022
ZSWIM61Dec 21, 2022

Condition

NameSubmissionsLast Updated
3-Methylglutaconic aciduria type 24Dec 21, 2022
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency5Dec 21, 2022
3-hydroxy-3-methylglutaryl-CoA synthase deficiency4Dec 21, 2022
3-methylcrotonyl-CoA carboxylase 2 deficiency1Aug 3, 2022
3-methylglutaconic aciduria type 11Aug 3, 2022
46,XY sex reversal 33Dec 21, 2022
46,XY sex reversal 62Dec 21, 2022
46,XY sex reversal 71Dec 21, 2022
8q24.3 microdeletion syndrome8Dec 21, 2022
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder9Dec 21, 2022
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome4Dec 21, 2022
ALG1-congenital disorder of glycosylation2Oct 1, 2019
ALG2-congenital disorder of glycosylation1Dec 21, 2022
ALG3-congenital disorder of glycosylation2Dec 21, 2022
ALG9 congenital disorder of glycosylation1Dec 21, 2022
AP-4 deficiency syndrome2Dec 21, 2022
AP4-related intellectual disability and spastic paraplegia1Dec 21, 2022
ATP1A3-associated neurological disorder1Aug 3, 2022
ATP6AP2-related disorder1Dec 21, 2022
Aarskog syndrome2Dec 21, 2022
Achondrogenesis type II1Aug 3, 2022
Achondrogenesis, type IA1Dec 21, 2022
Achromatopsia 22Dec 21, 2022
Achromatopsia 34Dec 21, 2022
Achromatopsia 41Aug 3, 2022
Acral peeling skin syndrome1Dec 21, 2022
Acrocallosal syndrome1Aug 3, 2022
Acrodysostosis 1 with or without hormone resistance1Dec 21, 2022
Acromelic frontonasal dysostosis1Dec 21, 2022
Acute intermittent porphyria1Dec 21, 2022
Acyl-CoA dehydrogenase 9 deficiency2Dec 21, 2022
Adams-Oliver syndrome 12Dec 21, 2022
Adams-Oliver syndrome 31Dec 21, 2022
Adams-Oliver syndrome 52Dec 21, 2022
Adrenoleukodystrophy4Dec 21, 2022
Aicardi-Goutieres syndrome 12Nov 1, 2016
Aicardi-Goutieres syndrome 21Dec 21, 2022
Aicardi-Goutieres syndrome 33Dec 21, 2022
Aicardi-Goutieres syndrome 42Dec 21, 2022
Aicardi-Goutieres syndrome 51Dec 21, 2022
Aicardi-Goutieres syndrome 61Dec 21, 2022
Alagille syndrome due to a JAG1 point mutation5Dec 21, 2022
Alagille syndrome due to a NOTCH2 point mutation4Dec 21, 2022
Alazami-Yuan syndrome2Dec 21, 2022
Alexander disease9Dec 21, 2022
Alkuraya-Kucinskas syndrome5Dec 21, 2022
Allan-Herndon-Dudley syndrome1Dec 21, 2022
Alopecia-intellectual disability syndrome 42Aug 3, 2022
Alpha thalassemia-X-linked intellectual disability syndrome1Dec 21, 2022
Alpha-1-antitrypsin deficiency3Dec 21, 2022
Alpha-N-acetylgalactosaminidase deficiency2Dec 21, 2022
Alport syndrome3Dec 21, 2022
Alstrom syndrome7Dec 21, 2022
Alternating hemiplegia of childhood 21Nov 1, 2016
Alzheimer disease 32Dec 21, 2022
Alzheimer disease type 11Aug 3, 2022
Amelogenesis imperfecta, hypomaturation type, IIa61Dec 21, 2022
Amyotrophic lateral sclerosis type 151Dec 21, 2022
Amyotrophic lateral sclerosis type 162Aug 3, 2022
Amyotrophic lateral sclerosis type 182Dec 21, 2022
Amyotrophic lateral sclerosis type 2, juvenile1Dec 21, 2022
Andersen Tawil syndrome3Dec 21, 2022
Androgen resistance syndrome7Dec 21, 2022
Anemia, congenital dyserythropoietic, type 1a2Dec 21, 2022
Anemia, nonspherocytic hemolytic, due to G6PD deficiency4Dec 21, 2022
Aneurysm-osteoarthritis syndrome6Dec 21, 2022
Angiokeratoma corporis diffusum6Dec 21, 2022
Aniridia 12Dec 21, 2022
Aortic aneurysm, familial thoracic 101Dec 21, 2022
Aortic aneurysm, familial thoracic 122Aug 3, 2022
Aortic aneurysm, familial thoracic 41Dec 21, 2022
Aortic aneurysm, familial thoracic 62Dec 21, 2022
Aortic aneurysm, familial thoracic 72Dec 21, 2022
Aortic valve disease 11Aug 3, 2022
Aortic valve disease 21Dec 21, 2022
Aortic valve disease 32Dec 21, 2022
Argininosuccinate lyase deficiency1Aug 3, 2022
Arrhinia with choanal atresia and microphthalmia syndrome1Dec 21, 2022
Arrhythmogenic right ventricular dysplasia 101Dec 21, 2022
Arrhythmogenic right ventricular dysplasia 132Dec 21, 2022
Arrhythmogenic right ventricular dysplasia 511Dec 21, 2022
Arrhythmogenic right ventricular dysplasia 913Dec 21, 2022
Arterial calcification, generalized, of infancy, 12Oct 1, 2019
Arterial calcification, generalized, of infancy, 21Oct 1, 2019
Arterial tortuosity syndrome1Aug 3, 2022
Arthrogryposis, renal dysfunction, and cholestasis 21Dec 21, 2022
Arts syndrome1Dec 21, 2022
Asphyxiating thoracic dystrophy 37Dec 21, 2022
Asphyxiating thoracic dystrophy 41Dec 21, 2022
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome5Dec 21, 2022
Ataxia-telangiectasia syndrome10Dec 21, 2022
Atrial conduction disease2Dec 21, 2022
Atrial fibrillation, familial, 71Dec 21, 2022
Atrial septal defect 21Dec 21, 2022
Atrial septal defect 36Dec 21, 2022
Atrial septal defect 41Aug 3, 2022
Atrial septal defect 62Dec 21, 2022
Atrial septal defect 72Dec 21, 2022
Atrial septal defect 81Dec 21, 2022
Atrial septal defect 91Dec 21, 2022
Atrioventricular septal defect 51Dec 21, 2022
Atrophia bulborum hereditaria2Dec 21, 2022
Atypical glycine encephalopathy1Aug 3, 2022
Auditory neuropathy-optic atrophy syndrome3Dec 21, 2022
Autism spectrum disorder due to AUTS2 deficiency5Dec 21, 2022
Autism, susceptibility to, 172Dec 21, 2022
Autism, susceptibility to, 187Dec 21, 2022
Autosomal dominant Alport syndrome7Aug 30, 2020
Autosomal dominant Kenny-Caffey syndrome3Dec 21, 2022
Autosomal dominant Parkinson disease 41Aug 3, 2022
Autosomal dominant Parkinson disease 82Dec 21, 2022
Autosomal dominant Robinow syndrome 23Dec 21, 2022
Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures1Aug 3, 2022
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures2Dec 21, 2022
Autosomal dominant deafness - onychodystrophy syndrome1Dec 21, 2022
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome4Dec 21, 2022
Autosomal dominant ichthyosis vulgaris3Dec 21, 2022
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome10Dec 21, 2022
Autosomal dominant limb-girdle muscular dystrophy type 1F1Dec 21, 2022
Autosomal dominant medullary cystic kidney disease with or without hyperuricemia1Dec 21, 2022
Autosomal dominant nocturnal frontal lobe epilepsy 11Aug 3, 2022
Autosomal dominant nonsyndromic hearing loss 101Dec 21, 2022
Autosomal dominant nonsyndromic hearing loss 122Aug 30, 2020
Autosomal dominant nonsyndromic hearing loss 152Dec 21, 2022
Autosomal dominant nonsyndromic hearing loss 171Aug 3, 2022
Autosomal dominant nonsyndromic hearing loss 201Aug 3, 2022
Autosomal dominant nonsyndromic hearing loss 2A2Dec 21, 2022
Autosomal dominant nonsyndromic hearing loss 3A1Aug 15, 2019
Autosomal dominant nonsyndromic hearing loss 401Dec 21, 2022
Autosomal dominant nonsyndromic hearing loss 441Dec 21, 2022
Autosomal dominant nonsyndromic hearing loss 4A1Dec 21, 2022
Autosomal dominant nonsyndromic hearing loss 561Dec 21, 2022
Autosomal dominant nonsyndromic hearing loss 71Dec 21, 2022
Autosomal dominant omodysplasia1Dec 21, 2022
Autosomal dominant pseudohypoaldosteronism type 11Aug 3, 2022
Autosomal recessive Alport syndrome1Aug 30, 2020
Autosomal recessive DOPA responsive dystonia2Dec 21, 2022
Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome5Dec 21, 2022
Autosomal recessive congenital ichthyosis 32Dec 21, 2022
Autosomal recessive congenital ichthyosis 4A2Aug 3, 2022
Autosomal recessive congenital ichthyosis 4B1Dec 21, 2022
Autosomal recessive congenital ichthyosis 61Dec 21, 2022
Autosomal recessive distal spinal muscular atrophy 13Dec 21, 2022
Autosomal recessive early-onset Parkinson disease 232Dec 21, 2022
Autosomal recessive early-onset Parkinson disease 61Aug 3, 2022
Autosomal recessive juvenile Parkinson disease 23Dec 21, 2022
Autosomal recessive limb-girdle muscular dystrophy type 2B3Dec 21, 2022
Autosomal recessive limb-girdle muscular dystrophy type 2I3Dec 21, 2022
Autosomal recessive limb-girdle muscular dystrophy type 2L1Dec 21, 2022
Autosomal recessive limb-girdle muscular dystrophy type 2P1Dec 21, 2022
Autosomal recessive limb-girdle muscular dystrophy type 2U1Dec 21, 2022
Autosomal recessive non-syndromic intellectual disability1Aug 3, 2022
Autosomal recessive nonsyndromic hearing loss 124Dec 21, 2022
Autosomal recessive nonsyndromic hearing loss 161Aug 15, 2019
Autosomal recessive nonsyndromic hearing loss 18A1Aug 3, 2022
Autosomal recessive nonsyndromic hearing loss 18B6Dec 21, 2022
Autosomal recessive nonsyndromic hearing loss 1A10Dec 21, 2022
Autosomal recessive nonsyndromic hearing loss 23Aug 15, 2019
Autosomal recessive nonsyndromic hearing loss 211Dec 21, 2022
Autosomal recessive nonsyndromic hearing loss 222Dec 21, 2022
Autosomal recessive nonsyndromic hearing loss 251Aug 3, 2022
Autosomal recessive nonsyndromic hearing loss 282Dec 21, 2022
Autosomal recessive nonsyndromic hearing loss 291Dec 21, 2022
Autosomal recessive nonsyndromic hearing loss 313Dec 21, 2022
Autosomal recessive nonsyndromic hearing loss 301Dec 21, 2022
Autosomal recessive nonsyndromic hearing loss 351Dec 21, 2022
Autosomal recessive nonsyndromic hearing loss 361Dec 21, 2022
Autosomal recessive nonsyndromic hearing loss 411Dec 21, 2022
Autosomal recessive nonsyndromic hearing loss 491Dec 21, 2022
Autosomal recessive nonsyndromic hearing loss 632Dec 21, 2022
Autosomal recessive nonsyndromic hearing loss 671Dec 21, 2022
Autosomal recessive nonsyndromic hearing loss 775Aug 3, 2022
Autosomal recessive nonsyndromic hearing loss 791Dec 21, 2022
Autosomal recessive nonsyndromic hearing loss 81Dec 21, 2022
Autosomal recessive nonsyndromic hearing loss 97Dec 21, 2022
Autosomal recessive omodysplasia1Dec 21, 2022
Autosomal recessive osteopetrosis 41Nov 9, 2017
Autosomal recessive polycystic kidney disease12Dec 21, 2022
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency1Dec 21, 2022
Autosomal recessive spastic paraplegia type 761Dec 21, 2022
Autosomal recessive spinocerebellar ataxia 103Dec 21, 2022
Axenfeld-Rieger syndrome type 31Dec 21, 2022
Ayme-Gripp syndrome1Dec 21, 2022
BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME1Dec 21, 2022
Band heterotopia of brain2Dec 21, 2022
Baraitser-Winter syndrome 14Dec 21, 2022
Baraitser-winter syndrome 21Dec 21, 2022
Bardet-Biedl syndrome 11Dec 21, 2022
Bardet-Biedl syndrome 103Dec 21, 2022
Bardet-Biedl syndrome 161Aug 3, 2022
Bardet-Biedl syndrome 22Aug 3, 2022
Bardet-Biedl syndrome 31Dec 21, 2022
Bardet-Biedl syndrome 72Dec 21, 2022
Bardet-Biedl syndrome 92Dec 21, 2022
Bartter disease type 11Dec 21, 2022
Bartter disease type 25Dec 21, 2022
Bartter disease type 31Dec 21, 2022
Bartter disease type 51Dec 21, 2022
Basal ganglia calcification, idiopathic, 51Dec 21, 2022
Basal ganglia calcification, idiopathic, 7, autosomal recessive3Dec 21, 2022
Basilicata-Akhtar syndrome2Dec 21, 2022
Benign familial hematuria12Aug 30, 2020
Benign hereditary chorea1Dec 21, 2022
Beta-D-mannosidosis2Dec 21, 2022
Bethlem myopathy 21Dec 21, 2022
Bietti crystalline corneoretinal dystrophy1Dec 21, 2022
Bifunctional peroxisomal enzyme deficiency1Dec 21, 2022
Bilateral frontoparietal polymicrogyria2Dec 21, 2022
Biotin-responsive basal ganglia disease2Nov 1, 2016
Biotinidase deficiency2Dec 21, 2022
Blepharocheilodontic syndrome 11Dec 21, 2022
Blepharophimosis - intellectual disability syndrome, SBBYS type4Dec 21, 2022
Blepharophimosis, ptosis, and epicanthus inversus syndrome2Dec 21, 2022
Bohring-Opitz syndrome5Dec 21, 2022
Bone fragility with contractures, arterial rupture, and deafness1Dec 21, 2022
Bone marrow failure syndrome 32Dec 21, 2022
Bone marrow failure syndrome 41Dec 21, 2022
Bone mineral density quantitative trait locus 181Aug 3, 2022
Bosch-Boonstra-Schaaf optic atrophy syndrome6Dec 21, 2022
Brachydactyly-elbow wrist dysplasia syndrome1Dec 21, 2022
Brain small vessel disease 1 with or without ocular anomalies2Dec 21, 2022
Branchiooculofacial syndrome1Dec 21, 2022
Branchiootorenal syndrome 12Dec 21, 2022
Breast-ovarian cancer, familial, susceptibility to, 41Dec 21, 2022
Brittle cornea syndrome 11Dec 21, 2022
Brown-Vialetto-van Laere syndrome 12Dec 21, 2022
Brown-Vialetto-van Laere syndrome 23Dec 21, 2022
Brugada syndrome1Dec 21, 2022
Brugada syndrome 21Dec 21, 2022
Brugada syndrome 42Dec 21, 2022
Bullous ichthyosiform erythroderma1Aug 3, 2022
C1Q deficiency1Dec 21, 2022
CBL-related disorder1Aug 3, 2022
CCDC115-CDG1Dec 21, 2022
CEBALID syndrome4Dec 21, 2022
CEP290-related ciliopathy3Dec 21, 2022
CHARGE association14Dec 21, 2022
CODAS syndrome1Aug 3, 2022
COG6-ongenital disorder of glycosylation1Dec 21, 2022
COG8-congenital disorder of glycosylation2Dec 21, 2022
COL4A1 or COL4A2-related cerebral small vessel disease8Dec 21, 2022
Camptomelic dysplasia2Aug 3, 2022
Capillary malformation-arteriovenous malformation 15Dec 21, 2022
Capillary malformation-arteriovenous malformation 28Dec 21, 2022
Cardiac anomalies - developmental delay - facial dysmorphism syndrome20Dec 21, 2022
Cardiac arrhythmia, ankyrin-B-related2Dec 21, 2022
Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies5Dec 21, 2022
Cardiac valvular dysplasia, X-linked1Aug 3, 2022
Cardiac, facial, and digital anomalies with developmental delay2Aug 3, 2022
Cardiac-urogenital syndrome1Dec 21, 2022
Cardioacrofacial dysplasia 21Dec 21, 2022
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 23Dec 21, 2022
Cardiofaciocutaneous syndrome 12Dec 21, 2022
Cardiofaciocutaneous syndrome 21Dec 21, 2022
Cardiofaciocutaneous syndrome 31Dec 21, 2022
Cardiomyopathy15Dec 21, 2022
Cardiomyopathy, familial hypertrophic 2719Dec 21, 2022
Cardiomyopathy, familial hypertrophic, 289Dec 21, 2022
Cardiospondylocarpofacial syndrome1Dec 21, 2022
Carnitine palmitoyl transferase II deficiency, myopathic form2Dec 21, 2022
Cataract 1 multiple types1Aug 3, 2022
Cataract 15 multiple types1Dec 21, 2022
Cataract 20 multiple types1Dec 21, 2022
Cataract 21 multiple types1Aug 3, 2022
Cataract 301Aug 3, 2022
Cataract 381Dec 21, 2022
Cataract 481Aug 3, 2022
Cataract 6 multiple types1Dec 21, 2022
Catecholaminergic polymorphic ventricular tachycardia 119Dec 21, 2022
Catecholaminergic polymorphic ventricular tachycardia 21Dec 21, 2022
Catecholaminergic polymorphic ventricular tachycardia 34Dec 21, 2022
Catecholaminergic polymorphic ventricular tachycardia 53Dec 21, 2022
Catifa syndrome1Dec 21, 2022
Central core myopathy1Oct 1, 2019
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 41Dec 21, 2022
Cerebellar ataxia-hypogonadism syndrome1Dec 21, 2022
Cerebellar atrophy with seizures and variable developmental delay1Dec 21, 2022
Cerebellar atrophy, visual impairment, and psychomotor retardation;4Dec 21, 2022
Cerebellar-facial-dental syndrome1Dec 21, 2022
Cerebral amyloid angiopathy, APP-related2Aug 3, 2022
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 110Dec 21, 2022
Cerebral cavernous malformation3Dec 21, 2022
Cerebral cavernous malformation 12Dec 21, 2022
Cerebral folate transport deficiency1Aug 3, 2022
Cerebrooculofacioskeletal syndrome 33Dec 21, 2022
Cerebroretinal microangiopathy with calcifications and cysts 12Dec 21, 2022
Char syndrome1Dec 21, 2022
Charcot-Marie-Tooth Disease, axonal, type 2GG1Aug 3, 2022
Charcot-Marie-Tooth disease X-linked dominant 12Dec 21, 2022
Charcot-Marie-Tooth disease X-linked recessive 41Dec 21, 2022
Charcot-Marie-Tooth disease axonal type 2C1Dec 21, 2022
Charcot-Marie-Tooth disease axonal type 2CC1Dec 21, 2022
Charcot-Marie-Tooth disease axonal type 2F1Aug 3, 2022
Charcot-Marie-Tooth disease axonal type 2L1Dec 21, 2022
Charcot-Marie-Tooth disease axonal type 2N1Dec 21, 2022
Charcot-Marie-Tooth disease axonal type 2O1Aug 3, 2022
Charcot-Marie-Tooth disease axonal type 2X1Dec 21, 2022
Charcot-Marie-Tooth disease dominant intermediate E1Dec 21, 2022
Charcot-Marie-Tooth disease dominant intermediate F1Dec 21, 2022
Charcot-Marie-Tooth disease type 2Y1Dec 21, 2022
Charcot-Marie-Tooth disease type 4B32Dec 21, 2022
Charcot-Marie-Tooth disease type 4F1Dec 21, 2022
Charcot-marie-tooth disease, axonal, type 2DD2Aug 3, 2022
Charlevoix-Saguenay spastic ataxia4Dec 21, 2022
Childhood apraxia of speech3Dec 21, 2022
Childhood onset GLUT1 deficiency syndrome 21Dec 21, 2022
Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder1Dec 21, 2022
Cholestanol storage disease2Dec 21, 2022
Cholestasis, progressive familial intrahepatic, 42Dec 21, 2022
Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss2Dec 21, 2022
Cholestatic liver disease2Sep 16, 2020
Chondrodysplasia punctata 2 X-linked dominant1Aug 3, 2022
Chopra-Amiel-Gordon syndrome1Dec 21, 2022
Choroideremia5Dec 21, 2022
Chromosome 1p32-p31 deletion syndrome6Dec 21, 2022
Chromosome 2q32-q33 deletion syndrome2Dec 21, 2022
Chudley-McCullough syndrome1Dec 21, 2022
Ciliary dyskinesia, primary, 402Aug 3, 2022
Ciliary dyskinesia, primary, 411Aug 3, 2022
Ciliopathy1Aug 3, 2022
Citrullinemia type I2Dec 21, 2022
Clark-Baraitser syndrome5Dec 21, 2022
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency5Dec 21, 2022
Classic homocystinuria4Dec 21, 2022
Cleft lip with or without cleft palate1Dec 21, 2022
Cleidocranial dysostosis2Dec 21, 2022
Cobalamin C disease1Dec 21, 2022
Cobblestone lissencephaly without muscular or ocular involvement1Dec 21, 2022
Cockayne syndrome type 22Dec 21, 2022
Coffin-Lowry syndrome1Dec 21, 2022
Coffin-Siris syndrome 115Dec 21, 2022
Coffin-Siris syndrome 112Dec 21, 2022
Coffin-Siris syndrome 64Dec 21, 2022
Coffin-Siris syndrome 71Dec 21, 2022
Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome2Dec 21, 2022
Cognitive impairment with or without cerebellar ataxia2Dec 21, 2022
Cohen syndrome7Dec 21, 2022
Cohen-Gibson syndrome1Aug 3, 2022
Collagen 6-related myopathy1Dec 21, 2022
Combined deficiency of sialidase AND beta galactosidase1Dec 21, 2022
Combined immunodeficiency due to LRBA deficiency1Dec 21, 2022
Combined immunodeficiency due to MALT1 deficiency1Aug 3, 2022
Combined immunodeficiency, X-linked1Aug 3, 2022
Combined oxidative phosphorylation defect type 135Dec 21, 2022
Combined oxidative phosphorylation defect type 172Dec 21, 2022
Combined oxidative phosphorylation defect type 202Dec 21, 2022
Combined oxidative phosphorylation defect type 212Dec 21, 2022
Combined oxidative phosphorylation defect type 233Aug 3, 2022
Combined oxidative phosphorylation defect type 271Dec 21, 2022
Combined oxidative phosphorylation defect type 71Dec 21, 2022
Combined oxidative phosphorylation defect type 82Dec 21, 2022
Combined oxidative phosphorylation deficiency 321Dec 21, 2022
Combined oxidative phosphorylation deficiency 391Dec 21, 2022
Combined oxidative phosphorylation deficiency 401Aug 3, 2022
Complex cortical dysplasia with other brain malformations 12Dec 21, 2022
Complex cortical dysplasia with other brain malformations 22Dec 21, 2022
Complex cortical dysplasia with other brain malformations 62Dec 21, 2022
Complex neurodevelopmental disorder2Aug 3, 2022
Cone dystrophy 31Aug 3, 2022
Cone-rod dystrophy 132Dec 21, 2022
Cone-rod dystrophy 201Dec 21, 2022
Cone-rod dystrophy 36Dec 21, 2022
Cone-rod dystrophy 52Dec 21, 2022
Cone-rod dystrophy 71Dec 21, 2022
Cone-rod synaptic disorder, congenital nonprogressive1Dec 21, 2022
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency3Dec 21, 2022
Congenital adrenal hypoplasia, X-linked3Dec 21, 2022
Congenital adrenal insuffiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency1Dec 21, 2022
Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay1Dec 21, 2022
Congenital anomaly of kidney and urinary tract1Dec 21, 2022
Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome3Dec 21, 2022
Congenital cataracts-facial dysmorphism-neuropathy syndrome1Dec 21, 2022
Congenital central hypoventilation1Oct 1, 2019
Congenital cerebellar hypoplasia1Dec 21, 2022
Congenital contractural arachnodactyly15Dec 21, 2022
Congenital contractures of the limbs and face, hypotonia, and developmental delay1Nov 1, 2016
Congenital disorder of deglycosylation 12Dec 21, 2022
Congenital disorder of deglycosylation 22Dec 21, 2022
Congenital disorder of glycosylation type 1E1Dec 21, 2022
Congenital disorder of glycosylation, type IAA1Dec 21, 2022
Congenital disorder of glycosylation, type IIr1Aug 3, 2022
Congenital dyserythropoietic anemia, type II3Dec 21, 2022
Congenital fibrosis of extraocular muscles type 11Dec 21, 2022
Congenital generalized lipodystrophy type 12Dec 21, 2022
Congenital heart defects and ectodermal dysplasia2Dec 21, 2022
Congenital heart defects and skeletal malformations syndrome1Aug 3, 2022
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder5Dec 21, 2022
Congenital heart defects, multiple types, 21Dec 21, 2022
Congenital heart defects, multiple types, 42Dec 21, 2022
Congenital heart defects, multiple types, 62Dec 21, 2022
Congenital heart defects, multiple types, 72Dec 21, 2022
Congenital heart disease2Dec 21, 2022
Congenital hyperammonemia, type I5Dec 21, 2022
Congenital long QT syndrome2Aug 3, 2022
Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome1Aug 3, 2022
Congenital microvillous atrophy2Aug 3, 2022
Congenital muscular hypertrophy-cerebral syndrome4Dec 21, 2022
Congenital myasthenic syndrome 101Dec 21, 2022
Congenital myasthenic syndrome 113Dec 21, 2022
Congenital myasthenic syndrome 192Aug 3, 2022
Congenital myasthenic syndrome 52Aug 3, 2022
Congenital nonprogressive myopathy with Moebius and Robin sequences2Dec 21, 2022
Congenital stationary night blindness 1E1Dec 21, 2022
Cornelia de Lange syndrome 115Dec 21, 2022
Cornelia de Lange syndrome 31Dec 21, 2022
Cornelia de Lange syndrome 41Dec 21, 2022
Cornelia de Lange syndrome 52Aug 30, 2020
Cortical dysplasia, complex, with other brain malformations 102Dec 21, 2022
Cortical dysplasia, complex, with other brain malformations 91Dec 21, 2022
Cortical dysplasia-focal epilepsy syndrome2Dec 21, 2022
Costello syndrome4Dec 21, 2022
Cowden syndrome 16Dec 21, 2022
Cowden syndrome 51Dec 21, 2022
Cowden syndrome 61Dec 21, 2022
Craniofrontonasal syndrome1Dec 21, 2022
Craniosynostosis 71Dec 21, 2022
Cryopyrin associated periodic syndrome1Dec 21, 2022
Cryptorchidism1Dec 21, 2022
Currarino triad3Dec 21, 2022
Cutaneous photosensitivity2Sep 16, 2020
Cutaneous porphyria1Dec 21, 2022
Cutis laxa with osteodystrophy1Aug 3, 2022
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies1Dec 21, 2022
Cutis laxa, autosomal dominant 12Dec 21, 2022
Cutis laxa, autosomal recessive, type 1B2Dec 21, 2022
Cystic fibrosis1Oct 1, 2019
Cytochrome-c oxidase deficiency disease1Aug 3, 2022
D-2-hydroxyglutaric aciduria 12Dec 21, 2022
D-2-hydroxyglutaric aciduria 21Dec 21, 2022
DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES2Dec 21, 2022
DYRK1A-related intellectual disability syndrome4Dec 21, 2022
Danon disease3Dec 21, 2022
De Lange syndrome2Aug 3, 2022
DeSanto-Shinawi syndrome1Aug 3, 2022
Deafness with labyrinthine aplasia, microtia, and microdontia1Dec 21, 2022
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase2Dec 21, 2022
Deficiency of acetyl-CoA acetyltransferase1Dec 21, 2022
Deficiency of alpha-mannosidase2Dec 21, 2022
Deficiency of aromatic-L-amino-acid decarboxylase4Dec 21, 2022
Deficiency of butyryl-CoA dehydrogenase2Dec 21, 2022
Deficiency of butyrylcholinesterase3Dec 21, 2022
Deficiency of guanidinoacetate methyltransferase1Dec 21, 2022
Deficiency of hydroxymethylglutaryl-CoA lyase1Dec 21, 2022
Deficiency of iodide peroxidase1Dec 21, 2022
Deficiency of malonyl-CoA decarboxylase1Dec 21, 2022
Dent disease type 18Dec 21, 2022
Dent disease type 21Dec 21, 2022
Dermatofibrosis lenticularis disseminata1Aug 3, 2022
Developmental and epileptic encephalopathy 946Dec 21, 2022
Developmental and epileptic encephalopathy 961Aug 3, 2022
Developmental and epileptic encephalopathy, 1111Dec 21, 2022
Developmental and epileptic encephalopathy, 135Dec 21, 2022
Developmental and epileptic encephalopathy, 143Dec 21, 2022
Developmental and epileptic encephalopathy, 172Dec 21, 2022
Developmental and epileptic encephalopathy, 184Dec 21, 2022
Developmental and epileptic encephalopathy, 25Dec 21, 2022
Developmental and epileptic encephalopathy, 241Dec 21, 2022
Developmental and epileptic encephalopathy, 265Dec 21, 2022
Developmental and epileptic encephalopathy, 281Dec 21, 2022
Developmental and epileptic encephalopathy, 311Dec 21, 2022
Developmental and epileptic encephalopathy, 321Aug 3, 2022
Developmental and epileptic encephalopathy, 351Dec 21, 2022
Developmental and epileptic encephalopathy, 361Dec 21, 2022
Developmental and epileptic encephalopathy, 391Dec 21, 2022
Developmental and epileptic encephalopathy, 411Dec 21, 2022
Developmental and epileptic encephalopathy, 429Dec 21, 2022
Developmental and epileptic encephalopathy, 432Dec 21, 2022
Developmental and epileptic encephalopathy, 451Dec 21, 2022
Developmental and epileptic encephalopathy, 54Dec 21, 2022
Developmental and epileptic encephalopathy, 503Dec 21, 2022
Developmental and epileptic encephalopathy, 521Dec 21, 2022
Developmental and epileptic encephalopathy, 543Dec 21, 2022
Developmental and epileptic encephalopathy, 561Aug 3, 2022
Developmental and epileptic encephalopathy, 572Dec 21, 2022
Developmental and epileptic encephalopathy, 581Dec 21, 2022
Developmental and epileptic encephalopathy, 64Dec 21, 2022
Developmental and epileptic encephalopathy, 601Dec 21, 2022
Developmental and epileptic encephalopathy, 623Dec 21, 2022
Developmental and epileptic encephalopathy, 643Dec 21, 2022
Developmental and epileptic encephalopathy, 673Dec 21, 2022
Developmental and epileptic encephalopathy, 694Dec 21, 2022
Developmental and epileptic encephalopathy, 79Dec 21, 2022
Developmental and epileptic encephalopathy, 701Aug 3, 2022
Developmental and epileptic encephalopathy, 711Dec 21, 2022
Developmental and epileptic encephalopathy, 722Dec 21, 2022
Developmental and epileptic encephalopathy, 731Dec 21, 2022
Developmental and epileptic encephalopathy, 742Dec 21, 2022
Developmental and epileptic encephalopathy, 753Aug 3, 2022
Developmental and epileptic encephalopathy, 791Aug 3, 2022
Developmental and epileptic encephalopathy, 842Dec 21, 2022
Developmental and epileptic encephalopathy, 85, with or without midline brain defects1Aug 3, 2022
Developmental and epileptic encephalopathy, 871Dec 21, 2022
Developmental and epileptic encephalopathy, 95Dec 21, 2022
Developmental delay with autism spectrum disorder and gait instability2Dec 21, 2022
Developmental delay with or without dysmorphic facies and autism11Dec 21, 2022
Developmental delay with variable intellectual impairment and behavioral abnormalities5Dec 21, 2022
Developmental delay with variable neurologic and brain abnormalities2Aug 3, 2022
Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy1Aug 3, 2022
Developmental malformations-deafness-dystonia syndrome2Dec 21, 2022
DiGeorge syndrome1Aug 3, 2022
Diabetes insipidus, nephrogenic, X-linked3Aug 3, 2022
Diamond-Blackfan anemia 121Oct 1, 2019
Diamond-Blackfan anemia 62Dec 21, 2022
Dias-Logan syndrome2Dec 21, 2022
Diencephalic-mesencephalic junction dysplasia syndrome 12Dec 21, 2022
Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome2Dec 21, 2022
Diffuse nonepidermolytic palmoplantar keratoderma2Dec 21, 2022
Dihydropyrimidine dehydrogenase deficiency8Dec 21, 2022
Dilated cardiomyopathy 1AA5Dec 21, 2022
Dilated cardiomyopathy 1C3Dec 21, 2022
Dilated cardiomyopathy 1CC2Dec 21, 2022
Dilated cardiomyopathy 1D7Dec 21, 2022
Dilated cardiomyopathy 1DD8Dec 21, 2022
Dilated cardiomyopathy 1E1Oct 1, 2019
Dilated cardiomyopathy 1EE1Dec 21, 2022
Dilated cardiomyopathy 1HH5Dec 21, 2022
Dilated cardiomyopathy 1II1Oct 1, 2019
Dilated cardiomyopathy 1JJ3Dec 21, 2022
Dilated cardiomyopathy 1NN2Dec 21, 2022
Dilated cardiomyopathy 1O2Dec 21, 2022
Dilated cardiomyopathy 1P1Aug 3, 2022
Dilated cardiomyopathy 1R1Dec 21, 2022
Dilated cardiomyopathy 1W4Dec 21, 2022
Dilated cardiomyopathy 1Y1Dec 21, 2022
Dilated cardiomyopathy 3B3Dec 21, 2022
Distal arthrogryposis type 2B11Dec 21, 2022
Distal arthrogryposis type 5D3Dec 21, 2022
Distal spinal muscular atrophy1Dec 21, 2022
Distichiasis-lymphedema syndrome1Dec 21, 2022
Duane-radial ray syndrome2Dec 21, 2022
Duchenne and Becker muscular dystrophy3Dec 21, 2022
Duchenne muscular dystrophy7Dec 21, 2022
Dysequilibrium syndrome1Aug 3, 2022
Dyskeratosis congenita1Aug 3, 2022
Dyskeratosis congenita, X-linked1Dec 21, 2022
Dyskeratosis congenita, autosomal dominant 31Aug 3, 2022
Dystonia 241Dec 21, 2022
Dystonia 251Dec 21, 2022
Dystonia 28, childhood-onset2Dec 21, 2022
Dystonic disorder1Dec 21, 2022
Early infantile epileptic encephalopathy with suppression bursts2Dec 21, 2022
Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome8Dec 21, 2022
Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome2Dec 21, 2022
Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome1Dec 21, 2022
Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis2Dec 21, 2022
Ectodermal dysplasia and immunodeficiency 12Dec 21, 2022
Ectopia lentis 2, isolated, autosomal recessive1Dec 21, 2022
Ectrodactyly1Aug 15, 2019
Ehlers-Danlos syndrome due to tenascin-X deficiency1Dec 21, 2022
Ehlers-Danlos syndrome, arthrochalasis type1Dec 21, 2022
Ehlers-Danlos syndrome, classic type, 17Dec 21, 2022
Ehlers-Danlos syndrome, classic type, 24Dec 21, 2022
Ehlers-Danlos syndrome, dermatosparaxis type1Dec 21, 2022
Ehlers-Danlos syndrome, periodontal type 12Dec 21, 2022
Ehlers-Danlos syndrome, spondylodysplastic type, 11Dec 21, 2022
Ehlers-Danlos syndrome, spondylodysplastic type, 21Dec 21, 2022
Elliptocytosis 31Aug 15, 2019
Emery-Dreifuss muscular dystrophy 5, autosomal dominant1Dec 21, 2022
Encephalopathy, progressive, with amyotrophy and optic atrophy1Dec 21, 2022
Epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive1Dec 21, 2022
Epidermolysis bullosa, junctional 3B, severe1Aug 3, 2022
Epilepsy, childhood absence, susceptibility to, 62Aug 3, 2022
Epilepsy, early-onset, vitamin B6-dependent4Dec 21, 2022
Epilepsy, familial focal, with variable foci 18Dec 21, 2022
Epilepsy, familial focal, with variable foci 21Dec 21, 2022
Epilepsy, familial focal, with variable foci 33Dec 21, 2022
Epilepsy, idiopathic generalized, susceptibility to, 102Dec 21, 2022
Epilepsy, idiopathic generalized, susceptibility to, 151Aug 3, 2022
Epileptic encephalopathy, infantile or early childhood, 11Dec 21, 2022
Epileptic encephalopathy, infantile or early childhood, 23Dec 21, 2022
Episodic ataxia type 11Dec 21, 2022
Episodic ataxia type 26Dec 21, 2022
Episodic ataxia type 61Dec 21, 2022
Episodic kinesigenic dyskinesia 12Dec 21, 2022
Erythrocytosis, familial, 42Dec 21, 2022
Ethylmalonic encephalopathy2Dec 21, 2022
Exostoses, multiple, type 11Dec 21, 2022
Exudative vitreoretinopathy 12Dec 21, 2022
Exudative vitreoretinopathy 51Aug 3, 2022
Exudative vitreoretinopathy 71Dec 21, 2022
FG syndrome 21Aug 3, 2022
FG syndrome 41Dec 21, 2022
FGFR2-related bent bone dysplasia1Dec 21, 2022
FRAXE2Dec 21, 2022
Facial dysmorphism-immunodeficiency-livedo-short stature syndrome1Dec 21, 2022
Factor XIII, b subunit, deficiency of1Aug 3, 2022
Failure to thrive2Sep 16, 2020
Familial Alzheimer disease1Aug 3, 2022
Familial X-linked hypophosphatemic vitamin D refractory rickets3Dec 21, 2022
Familial acute necrotizing encephalopathy1Dec 21, 2022
Familial cardiomyopathy2Dec 21, 2022
Familial episodic pain syndrome with predominantly lower limb involvement1Dec 21, 2022
Familial hemophagocytic lymphohistiocytosis 21Dec 21, 2022
Familial hemophagocytic lymphohistiocytosis 41Dec 21, 2022
Familial hypocalciuric hypercalcemia 12Dec 21, 2022
Familial hypokalemia-hypomagnesemia13Dec 21, 2022
Familial infantile myasthenia2Dec 21, 2022
Familial isolated dilated cardiomyopathy2Dec 21, 2022
Familial juvenile hyperuricemic nephropathy type 16Dec 21, 2022
Familial medullary thyroid carcinoma1Dec 21, 2022
Familial pityriasis rubra pilaris1Dec 21, 2022
Fanconi anemia complementation group A3Dec 21, 2022
Fanconi anemia complementation group B1Aug 3, 2022
Fanconi anemia complementation group C2Dec 21, 2022
Fanconi anemia complementation group D21Dec 21, 2022
Fanconi anemia complementation group G1Dec 21, 2022
Fanconi anemia complementation group P2Dec 21, 2022
Fanconi anemia complementation group Q2Dec 21, 2022
Fanconi anemia, complementation group S2Dec 21, 2022
Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 33Dec 21, 2022
Feingold syndrome type 12Dec 21, 2022
Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement1Aug 3, 2022
Fibrosis of extraocular muscles, congenital, 52Aug 3, 2022
Filippi syndrome2Dec 21, 2022
Finnish congenital nephrotic syndrome9Dec 21, 2022
Floating-Harbor syndrome3Dec 21, 2022
Focal dermal hypoplasia1Aug 3, 2022
Focal segmental glomerulosclerosis 11Dec 21, 2022
Focal segmental glomerulosclerosis 54Dec 21, 2022
Focal segmental glomerulosclerosis 82Dec 21, 2022
Focal segmental glomerulosclerosis and neurodevelopmental syndrome2Dec 21, 2022
Fraser syndrome 11Dec 21, 2022
Frontotemporal dementia and/or amyotrophic lateral sclerosis 42Dec 21, 2022
Frontotemporal dementia and/or amyotrophic lateral sclerosis 51Dec 21, 2022
Fuhrmann syndrome1Aug 3, 2022
GLUT1 deficiency syndrome2Aug 3, 2022
GM1 gangliosidosis3Dec 21, 2022
GRIK2-related neurodevelopmental disorder1Oct 1, 2019
GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder2Dec 21, 2022
Galactosylceramide beta-galactosidase deficiency5Dec 21, 2022
Galloway-Mowat syndrome 32Dec 21, 2022
Galloway-Mowat syndrome 42Dec 21, 2022
Gastrointestinal defects and immunodeficiency syndrome 15Aug 3, 2022
Gaucher disease3Dec 21, 2022
Gaucher disease type I1Dec 21, 2022
Gaze palsy, familial horizontal, with progressive scoliosis 13Dec 21, 2022
Geleophysic dysplasia 12Dec 21, 2022
Generalized epilepsy with febrile seizures plus, type 28Dec 21, 2022
Genitopatellar syndrome1Dec 21, 2022
Genitourinary and/or brain malformation syndrome2Dec 21, 2022
Gillespie syndrome1Dec 21, 2022
Glaucoma 3A2Dec 21, 2022
Global developmental delay with or without impaired intellectual development1Dec 21, 2022
Global developmental delay with speech and behavioral abnormalities2Dec 21, 2022
Global proximal tubulopathy2Sep 16, 2020
Glomerulopathy with fibronectin deposits 23Aug 3, 2022
Glomuvenous malformation2Dec 21, 2022
Glucocorticoid deficiency with achalasia1Dec 21, 2022
Glucose-6-phosphate transport defect2Aug 3, 2022
Glutamate formiminotransferase deficiency1Dec 21, 2022
Glutamate pyruvate transaminase 2 deficiency4Dec 21, 2022
Glutaric aciduria, type 12Dec 21, 2022
Glycogen storage disease IXa11Dec 21, 2022
Glycogen storage disease IXd1Dec 21, 2022
Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form1Aug 3, 2022
Glycogen storage disease due to muscle beta-enolase deficiency2Dec 21, 2022
Glycogen storage disease due to phosphoglycerate kinase 1 deficiency3Dec 21, 2022
Glycogen storage disease type III1Dec 21, 2022
Glycogen storage disease, type II6Dec 21, 2022
Glycogen storage disease, type IV1Dec 21, 2022
Glycogen storage disease, type V4Dec 21, 2022
Glycogen storage disorder due to hepatic glycogen synthase deficiency4Dec 21, 2022
Glycosylphosphatidylinositol biosynthesis defect 152Dec 21, 2022
Gorlin syndrome6Dec 21, 2022
Granulomatous disease, chronic, X-linked2Dec 21, 2022
Greig cephalopolysyndactyly syndrome3Dec 21, 2022
Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy3Dec 21, 2022
HSD10 mitochondrial disease1Oct 1, 2019
HUWE1-related neurodevelopmental disorder1Oct 1, 2019
Hajdu-Cheney syndrome3Dec 21, 2022
Hamartoma of hypothalamus1Dec 21, 2022
Hand-foot-genital syndrome1Dec 21, 2022
Hao-Fountain syndrome1Dec 21, 2022
Hearing loss, X-linked 61Aug 3, 2022
Hearing loss, autosomal recessive1Dec 21, 2022
Hearing loss, autosomal recessive 1001Aug 3, 2022
Hearing loss, autosomal recessive 1101Aug 15, 2019
Hearing loss, autosomal recessive 574Dec 21, 2022
Hecht syndrome2Dec 21, 2022
Hemochromatosis type 11Dec 21, 2022
Hemochromatosis type 2A2Dec 21, 2022
Hemochromatosis type 31Dec 21, 2022
Hereditary ATTR amyloidosis1Aug 3, 2022
Hereditary arterial and articular multiple calcification syndrome1Dec 21, 2022
Hereditary cancer-predisposing syndrome2Dec 21, 2022
Hereditary factor IX deficiency disease1Dec 21, 2022
Hereditary factor VIII deficiency disease8Dec 21, 2022
Hereditary fructosuria3Dec 21, 2022
Hereditary sensory and autonomic neuropathy type 61Dec 21, 2022
Hereditary sensory and autonomic neuropathy type 71Dec 21, 2022
Hereditary sensory neuropathy-deafness-dementia syndrome3Dec 21, 2022
Hereditary spastic paraplegia 101Dec 21, 2022
Hereditary spastic paraplegia 1111Dec 21, 2022
Hereditary spastic paraplegia 158Dec 21, 2022
Hereditary spastic paraplegia 281Aug 3, 2022
Hereditary spastic paraplegia 311Dec 21, 2022
Hereditary spastic paraplegia 352Dec 21, 2022
Hereditary spastic paraplegia 3A3Dec 21, 2022
Hereditary spastic paraplegia 415Dec 21, 2022
Hereditary spastic paraplegia 472Aug 3, 2022
Hereditary spastic paraplegia 484Dec 21, 2022
Hereditary spastic paraplegia 501Aug 3, 2022
Hereditary spastic paraplegia 531Dec 21, 2022
Hereditary spastic paraplegia 541Aug 3, 2022
Hereditary spastic paraplegia 562Dec 21, 2022
Hereditary spastic paraplegia 5A1Dec 21, 2022
Hereditary spastic paraplegia 61Dec 21, 2022
Hereditary spastic paraplegia 71Dec 21, 2022
Hereditary spastic paraplegia 731Aug 3, 2022
Hereditary spastic paraplegia 742Dec 21, 2022
Hereditary spherocytosis type 21Oct 1, 2019
Hereditary xanthinuria type 11Aug 3, 2022
Hermansky-Pudlak syndrome 52Dec 21, 2022
Heterotaxy, visceral, 1, X-linked3Dec 21, 2022
Heterotaxy, visceral, 8, autosomal2Dec 21, 2022
Heterotopia, periventricular, X-linked dominant1Dec 21, 2022
Hidrotic ectodermal dysplasia syndrome1Aug 3, 2022
Hirschsprung disease, susceptibility to, 12Dec 21, 2022
Holocarboxylase synthetase deficiency2Dec 21, 2022
Holoprosencephaly 112Dec 21, 2022
Holoprosencephaly 31Dec 21, 2022
Holoprosencephaly 41Dec 21, 2022
Holoprosencephaly 52Dec 21, 2022
Holoprosencephaly 91Aug 3, 2022
Holt-Oram syndrome4Dec 21, 2022
Homocystinuria due to methylene tetrahydrofolate reductase deficiency4Dec 21, 2022
Hydrocephalus, nonsyndromic, autosomal recessive 22Dec 21, 2022
Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome2Dec 21, 2022
Hyper-IgM syndrome type 11Aug 3, 2022
Hyperaldosteronism, familial, type IV1Dec 21, 2022
Hypercalcemia, infantile, 21Aug 30, 2020
Hypercholesterolemia, autosomal dominant, 31Dec 21, 2022
Hypercholesterolemia, familial, 15Dec 21, 2022
Hyperinsulinemic hypoglycemia, familial, 42Dec 21, 2022
Hyperphosphatasia with intellectual disability syndrome 11Dec 21, 2022
Hyperphosphatasia with intellectual disability syndrome 21Dec 21, 2022
Hyperphosphatasia with intellectual disability syndrome 31Dec 21, 2022
Hyperphosphatasia with intellectual disability syndrome 42Dec 21, 2022
Hyperphosphatasia with intellectual disability syndrome 52Dec 21, 2022
Hypertrichotic osteochondrodysplasia Cantu type3Dec 21, 2022
Hypertrophic cardiomyopathy8Dec 21, 2022
Hypertrophic cardiomyopathy 17Dec 21, 2022
Hypertrophic cardiomyopathy 102Dec 21, 2022
Hypertrophic cardiomyopathy 111Dec 21, 2022
Hypertrophic cardiomyopathy 121Dec 21, 2022
Hypertrophic cardiomyopathy 143Dec 21, 2022
Hypertrophic cardiomyopathy 174Dec 21, 2022
Hypertrophic cardiomyopathy 191Dec 21, 2022
Hypertrophic cardiomyopathy 26Dec 21, 2022
Hypertrophic cardiomyopathy 2627Dec 21, 2022
Hypertrophic cardiomyopathy 35Dec 21, 2022
Hypertrophic cardiomyopathy 41Dec 21, 2022
Hypertrophic cardiomyopathy 61Aug 3, 2022
Hypertrophic cardiomyopathy 71Dec 21, 2022
Hypertrophic cardiomyopathy 91Nov 9, 2017
Hyperuricemic nephropathy, familial juvenile type 41Dec 21, 2022
Hypogonadism with anosmia1Dec 21, 2022
Hypogonadotropic hypogonadism 14 with or without anosmia2Dec 21, 2022
Hypogonadotropic hypogonadism 2 with or without anosmia1Dec 21, 2022
Hypogonadotropic hypogonadism 3 with or without anosmia1Dec 21, 2022
Hypogonadotropic hypogonadism 7 with or without anosmia3Dec 21, 2022
Hypohidrotic X-linked ectodermal dysplasia1Dec 21, 2022
Hypomyelinating leukodystrophy 111Aug 3, 2022
Hypomyelinating leukodystrophy 122Dec 21, 2022
Hypomyelinating leukodystrophy 61Dec 21, 2022
Hypomyelinating leukodystrophy 93Dec 21, 2022
Hypomyelination with brain stem and spinal cord involvement and leg spasticity2Nov 9, 2017
Hypoparathyroidism, deafness, renal disease syndrome6Dec 21, 2022
Hypoplastic left heart1Dec 21, 2022
Hypospadias 2, X-linked1Dec 21, 2022
Hypotonia with lactic acidemia and hyperammonemia1Dec 21, 2022
Hypotonia, ataxia, and delayed development syndrome3Dec 21, 2022
Hypotonia, infantile, with psychomotor retardation and characteristic facies 26Dec 21, 2022
Hypotonia, infantile, with psychomotor retardation and characteristic facies 31Dec 21, 2022
Hypotrichosis 141Dec 21, 2022
Hypotrichosis 61Dec 21, 2022
Hypotrichosis 81Aug 3, 2022
Idiopathic basal ganglia calcification 14Dec 21, 2022
Imerslund-Grasbeck syndrome type 15Dec 21, 2022
Immunodeficiency1Aug 3, 2022
Immunodeficiency 31B1Nov 1, 2016
Immunodeficiency 751Aug 3, 2022
Immunodeficiency 78 with autoimmunity and developmental delay1Aug 3, 2022
Immunodeficiency, common variable, 123Dec 21, 2022
Immunodeficiency, developmental delay, and hypohomocysteinemia1Dec 21, 2022
Immunodeficiency-centromeric instability-facial anomalies syndrome 21Dec 21, 2022
Infantile GM1 gangliosidosis4Dec 21, 2022
Infantile cerebellar-retinal degeneration2Dec 21, 2022
Infantile liver failure syndrome 12Aug 3, 2022
Infantile liver failure syndrome 22Dec 21, 2022
Infantile-onset ascending hereditary spastic paralysis2Dec 21, 2022
Insulin-dependent diabetes mellitus secretory diarrhea syndrome1Dec 21, 2022
Intellectual developmental disorder 612Dec 21, 2022
Intellectual developmental disorder 625Dec 21, 2022
Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature1Dec 21, 2022
Intellectual developmental disorder with autistic features and language delay, with or without seizures3Dec 21, 2022
Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures1Dec 21, 2022
Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities2Dec 21, 2022
Intellectual developmental disorder with dysmorphic facies and ptosis9Dec 21, 2022
Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold1Dec 21, 2022
Intellectual developmental disorder with hypotonia and behavioral abnormalities2Dec 21, 2022
Intellectual developmental disorder with impaired language and dysmorphic facies1Aug 3, 2022
Intellectual developmental disorder with macrocephaly, seizures, and speech delay1Dec 21, 2022
Intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies1Dec 21, 2022
Intellectual developmental disorder with seizures and language delay6Dec 21, 2022
Intellectual developmental disorder with short stature and behavioral abnormalities2Dec 21, 2022
Intellectual developmental disorder with speech delay, autism, and dysmorphic facies3Dec 21, 2022
Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities4Dec 21, 2022
Intellectual developmental disorder, autosomal dominant 63, with macrocephaly2Dec 21, 2022
Intellectual developmental disorder, autosomal dominant 648Dec 21, 2022
Intellectual developmental disorder, autosomal recessive 721Dec 21, 2022
Intellectual disability, FRA12A type1Dec 21, 2022
Intellectual disability, X-linked 19Dec 21, 2022
Intellectual disability, X-linked 1022Dec 21, 2022
Intellectual disability, X-linked 1041Dec 21, 2022
Intellectual disability, X-linked 1051Dec 21, 2022
Intellectual disability, X-linked 1061Dec 21, 2022
Intellectual disability, X-linked 301Aug 3, 2022
Intellectual disability, X-linked 492Dec 21, 2022
Intellectual disability, X-linked 631Dec 21, 2022
Intellectual disability, X-linked 903Dec 21, 2022
Intellectual disability, X-linked 932Dec 21, 2022
Intellectual disability, X-linked 961Aug 3, 2022
Intellectual disability, X-linked 991Aug 3, 2022
Intellectual disability, X-linked 99, syndromic, female-restricted2Aug 3, 2022
Intellectual disability, X-linked syndromic, Turner type11Dec 21, 2022
Intellectual disability, X-linked, syndromic 333Dec 21, 2022
Intellectual disability, X-linked, syndromic, Bain type1Dec 21, 2022
Intellectual disability, X-linked, syndromic, Houge type1Dec 21, 2022
Intellectual disability, X-linked, with or without seizures, arx-related1Aug 3, 2022
Intellectual disability, X-linked, with panhypopituitarism1Dec 21, 2022
Intellectual disability, autosomal dominant1Aug 3, 2022
Intellectual disability, autosomal dominant 14Dec 21, 2022
Intellectual disability, autosomal dominant 111Dec 21, 2022
Intellectual disability, autosomal dominant 134Dec 21, 2022
Intellectual disability, autosomal dominant 144Dec 21, 2022
Intellectual disability, autosomal dominant 152Dec 21, 2022
Intellectual disability, autosomal dominant 164Dec 21, 2022
Intellectual disability, autosomal dominant 203Dec 21, 2022
Intellectual disability, autosomal dominant 224Dec 21, 2022
Intellectual disability, autosomal dominant 272Dec 21, 2022
Intellectual disability, autosomal dominant 293Dec 21, 2022
Intellectual disability, autosomal dominant 383Dec 21, 2022
Intellectual disability, autosomal dominant 397Dec 21, 2022
Intellectual disability, autosomal dominant 413Dec 21, 2022
Intellectual disability, autosomal dominant 423Dec 21, 2022
Intellectual disability, autosomal dominant 434Dec 21, 2022
Intellectual disability, autosomal dominant 459Dec 21, 2022
Intellectual disability, autosomal dominant 473Dec 21, 2022
Intellectual disability, autosomal dominant 481Aug 3, 2022
Intellectual disability, autosomal dominant 59Dec 21, 2022
Intellectual disability, autosomal dominant 502Dec 21, 2022
Intellectual disability, autosomal dominant 512Dec 21, 2022
Intellectual disability, autosomal dominant 5213Dec 21, 2022
Intellectual disability, autosomal dominant 532Dec 21, 2022
Intellectual disability, autosomal dominant 543Dec 21, 2022
Intellectual disability, autosomal dominant 55, with seizures2Dec 21, 2022
Intellectual disability, autosomal dominant 563Dec 21, 2022
Intellectual disability, autosomal dominant 573Dec 21, 2022
Intellectual disability, autosomal dominant 62Dec 21, 2022
Intellectual disability, autosomal recessive 135Dec 21, 2022
Intellectual disability, autosomal recessive 181Aug 3, 2022
Intellectual disability, autosomal recessive 272Dec 21, 2022
Intellectual disability, autosomal recessive 443Dec 21, 2022
Intellectual disability, autosomal recessive 473Dec 21, 2022
Intellectual disability, autosomal recessive 538Dec 21, 2022
Intellectual disability, autosomal recessive 572Dec 21, 2022
Intellectual disability, autosomal recessive 582Dec 21, 2022
Intellectual disability, autosomal recessive 661Dec 21, 2022
Intellectual disability-cataracts-calcified pinnae-myopathy syndrome2Dec 21, 2022
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency8Dec 21, 2022
Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome5Dec 21, 2022
Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome4Dec 21, 2022
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome2Dec 21, 2022
Intellectual disability-severe speech delay-mild dysmorphism syndrome14Dec 21, 2022
Intellectual disability-strabismus syndrome1Aug 3, 2022
Interstitial lung disease due to ABCA3 deficiency3Dec 21, 2022
Intracerebral hemorrhage1Dec 21, 2022
Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency1Dec 21, 2022
Isolated congenital megalocornea1Aug 3, 2022
Isolated lutropin deficiency1Dec 21, 2022
Jackson-Weiss syndrome1Dec 21, 2022
Jawad syndrome1Dec 21, 2022
Johanson-Blizzard syndrome1Dec 21, 2022
Joubert syndrome 12Dec 21, 2022
Joubert syndrome 101Dec 21, 2022
Joubert syndrome 132Dec 21, 2022
Joubert syndrome 142Aug 3, 2022
Joubert syndrome 161Dec 21, 2022
Joubert syndrome 176Dec 21, 2022
Joubert syndrome 183Dec 21, 2022
Joubert syndrome 233Dec 21, 2022
Joubert syndrome 252Dec 21, 2022
Joubert syndrome 34Dec 21, 2022
Joubert syndrome 302Dec 21, 2022
Joubert syndrome 51Aug 3, 2022
Joubert syndrome 62Aug 30, 2020
Joubert syndrome 72Dec 21, 2022
Joubert syndrome 97Dec 21, 2022
Junctional epidermolysis bullosa1Aug 3, 2022
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome3Dec 21, 2022
Juvenile retinoschisis2Dec 21, 2022
KBG syndrome27Dec 21, 2022
KCNH1 associated disorder2Dec 21, 2022
Kabuki syndrome 123Dec 21, 2022
Kabuki syndrome 28Dec 21, 2022
Kartagener syndrome2Dec 21, 2022
Karyomegalic interstitial nephritis4Dec 21, 2022
Keipert syndrome1Dec 21, 2022
Khan-Khan-Katsanis syndrome1Dec 21, 2022
Kleefstra syndrome 17Dec 21, 2022
Kleefstra syndrome 212Dec 21, 2022
Kohlschutter-Tonz syndrome-like1Dec 21, 2022
Koolen-de Vries syndrome3Dec 21, 2022
Kugelberg-Welander disease2Dec 21, 2022
L-2-hydroxyglutaric aciduria1Dec 21, 2022
LAMA2-related muscular dystrophy3Dec 21, 2022
Lamb-Shaffer syndrome2Dec 21, 2022
Landau-Kleffner syndrome3Dec 21, 2022
Large congenital melanocytic nevus1Dec 21, 2022
Lateral meningocele syndrome1Dec 21, 2022
Laurence-Moon syndrome1Dec 21, 2022
Leber congenital amaurosis 102Dec 21, 2022
Leber congenital amaurosis 32Dec 21, 2022
Leber congenital amaurosis 61Aug 3, 2022
Left ventricular noncompaction1Dec 21, 2022
Left ventricular noncompaction 11Aug 3, 2022
Left ventricular noncompaction 71Aug 3, 2022
Left ventricular noncompaction 83Dec 21, 2022
Legius syndrome2Dec 21, 2022
Leigh syndrome5Dec 21, 2022
Lesch-Nyhan syndrome1Dec 21, 2022
Lethal congenital contracture syndrome 111Oct 1, 2019
Lethal congenital glycogen storage disease of heart1Dec 21, 2022
Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome1Dec 21, 2022
Leukodystrophy, hypomyelinating, 152Dec 21, 2022
Leukodystrophy, hypomyelinating, 161Dec 21, 2022
Leukodystrophy, hypomyelinating, 19, transient infantile1Aug 3, 2022
Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome3Dec 21, 2022
Leukoencephalopathy, progressive, with ovarian failure2Aug 3, 2022
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome3Dec 21, 2022
Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome2Dec 21, 2022
Levy-Hollister syndrome1Dec 21, 2022
Li-Ghorbani-Weisz-Hubshman syndrome1Aug 3, 2022
Linear skin defects with multiple congenital anomalies 31Aug 3, 2022
Lipoyl transferase 1 deficiency2Dec 21, 2022
Lissencephaly 101Dec 21, 2022
Lissencephaly 42Dec 21, 2022
Lissencephaly 9 with complex brainstem malformation1Aug 3, 2022
Lissencephaly due to TUBA1A mutation6Dec 21, 2022
Lissencephaly type 1 due to doublecortin gene mutation2Dec 21, 2022
Loeys-Dietz syndrome 18Dec 21, 2022
Loeys-Dietz syndrome 23Dec 21, 2022
Loeys-Dietz syndrome 44Dec 21, 2022
Loeys-Dietz syndrome 62Dec 21, 2022
Long QT syndrome 13Dec 21, 2022
Long QT syndrome 101Dec 21, 2022
Long QT syndrome 111Aug 3, 2022
Long QT syndrome 131Dec 21, 2022
Long QT syndrome 151Dec 21, 2022
Long QT syndrome 161Dec 21, 2022
Long QT syndrome 230Dec 21, 2022
Long QT syndrome 31Dec 21, 2022
Long QT syndrome 63Dec 21, 2022
Long qt syndrome 810Dec 21, 2022
Loricrin keratoderma1Dec 21, 2022
Lowe syndrome3Dec 21, 2022
Luscan-Lumish syndrome8Dec 21, 2022
Lymphatic malformation 41Dec 21, 2022
Lymphatic malformation 71Dec 21, 2022
Lynch syndrome 51Aug 3, 2022
MASA syndrome1Aug 3, 2022
MED12-related intellectual disability syndrome3Aug 3, 2022
MIRAGE syndrome1Dec 21, 2022
MYPN-related myopathy1Dec 21, 2022
Macrocephaly, acquired, with impaired intellectual development5Dec 21, 2022
Macrocephaly, dysmorphic facies, and psychomotor retardation2Dec 21, 2022
Macrocephaly-autism syndrome4Dec 21, 2022
Macrocephaly-developmental delay syndrome3Dec 21, 2022
Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome8Dec 21, 2022
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss10Dec 21, 2022
Malan overgrowth syndrome2Dec 21, 2022
Mandibular hypoplasia-deafness-progeroid syndrome1Dec 21, 2022
Mandibulofacial dysostosis-microcephaly syndrome5Dec 21, 2022
Maple syrup urine disease2Dec 21, 2022
Marfan syndrome25Dec 21, 2022
Marshall syndrome1Dec 21, 2022
Martsolf syndrome 12Dec 21, 2022
Mast syndrome1Dec 21, 2022
Maturity-onset diabetes of the young type 32Dec 21, 2022
Meckel syndrome, type 62Dec 21, 2022
Meckel-Gruber syndrome1Dec 21, 2022
Medium-chain acyl-coenzyme A dehydrogenase deficiency4Dec 21, 2022
Meester-Loeys syndrome2Dec 21, 2022
Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations3Dec 21, 2022
Megalencephalic leukoencephalopathy with subcortical cysts 12Dec 21, 2022
Megalencephaly-capillary malformation-polymicrogyria syndrome1Dec 21, 2022
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 11Dec 21, 2022
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 21Aug 3, 2022
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 32Dec 21, 2022
Megalocornea1Nov 1, 2016
Melnick-Fraser syndrome1Dec 21, 2022
Menke-Hennekam syndrome 21Aug 3, 2022
Menkes kinky-hair syndrome7Dec 21, 2022
Metachromatic leukodystrophy5Dec 21, 2022
Metachromatic leukodystrophy, juvenile type1Dec 21, 2022
Metaphyseal chondrodysplasia, Schmid type1Aug 3, 2022
Methylmalonate semialdehyde dehydrogenase deficiency1Aug 3, 2022
Methylmalonic acidemia with homocystinuria, type cblX3Dec 21, 2022
Microcephalic osteodysplastic primordial dwarfism type II1Dec 21, 2022
Microcephalic primordial dwarfism due to RTTN deficiency4Dec 21, 2022
Microcephalic primordial dwarfism due to ZNF335 deficiency4Dec 21, 2022
Microcephalic primordial dwarfism, Alazami type1Dec 21, 2022
Microcephaly 1, primary, autosomal recessive4Dec 21, 2022
Microcephaly 13, primary, autosomal recessive1Dec 21, 2022
Microcephaly 15, primary, autosomal recessive2Dec 21, 2022
Microcephaly 17, primary, autosomal recessive2Dec 21, 2022
Microcephaly 18, primary, autosomal dominant4Dec 21, 2022
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations6Dec 21, 2022
Microcephaly 20, primary, autosomal recessive2Dec 21, 2022
Microcephaly 5, primary, autosomal recessive13Dec 21, 2022
Microcephaly 8, primary, autosomal recessive1Dec 21, 2022
Microcephaly and chorioretinopathy 16Dec 21, 2022
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability4Dec 21, 2022
Microcephaly, developmental delay, and brittle hair syndrome2Dec 21, 2022
Microcephaly, growth deficiency, seizures, and brain malformations1Dec 21, 2022
Microcephaly, growth restriction, and increased sister chromatid exchange 23Dec 21, 2022
Microcephaly, seizures, and developmental delay2Dec 21, 2022
Microcephaly, short stature, and limb abnormalities2Dec 21, 2022
Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome1Aug 3, 2022
Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome3Dec 21, 2022
Microcephaly-thin corpus callosum-intellectual disability syndrome3Dec 21, 2022
Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome9Dec 21, 2022
Microphthalmia, isolated, with coloboma 91Aug 3, 2022
Microphthalmia, syndromic 121Oct 1, 2019
Migraine, familial hemiplegic, 11Dec 21, 2022
Migraine, with or without aura, susceptibility to, 131Dec 21, 2022
Mitochondrial DNA depletion syndrome 14Dec 21, 2022
Mitochondrial DNA depletion syndrome 133Dec 21, 2022
Mitochondrial DNA depletion syndrome 20 (mngie type)1Aug 3, 2022
Mitochondrial DNA depletion syndrome 91Dec 21, 2022
Mitochondrial DNA depletion syndrome, myopathic form2Dec 21, 2022
Mitochondrial complex 1 deficiency, nuclear type 101Aug 3, 2022
Mitochondrial complex 1 deficiency, nuclear type 111Aug 3, 2022
Mitochondrial complex 1 deficiency, nuclear type 141Aug 3, 2022
Mitochondrial complex 1 deficiency, nuclear type 161Oct 1, 2019
Mitochondrial complex 1 deficiency, nuclear type 172Dec 21, 2022
Mitochondrial complex 1 deficiency, nuclear type 193Dec 21, 2022
Mitochondrial complex 1 deficiency, nuclear type 21Dec 21, 2022
Mitochondrial complex 1 deficiency, nuclear type 211Dec 21, 2022
Mitochondrial complex 1 deficiency, nuclear type 222Dec 21, 2022
Mitochondrial complex 1 deficiency, nuclear type 251Aug 3, 2022
Mitochondrial complex 1 deficiency, nuclear type 263Dec 21, 2022
Mitochondrial complex 1 deficiency, nuclear type 32Dec 21, 2022
Mitochondrial complex 1 deficiency, nuclear type 341Dec 21, 2022
Mitochondrial complex 1 deficiency, nuclear type 42Dec 21, 2022
Mitochondrial complex 1 deficiency, nuclear type 51Dec 21, 2022
Mitochondrial complex 1 deficiency, nuclear type 71Dec 21, 2022
Mitochondrial complex 2 deficiency, nuclear type 22Dec 21, 2022
Mitochondrial complex III deficiency nuclear type 13Dec 21, 2022
Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency1Aug 3, 2022
Mitochondrial myopathy-lactic acidosis-deafness syndrome3Dec 21, 2022
Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency10Dec 21, 2022
Monosomy 7 myelodysplasia and leukemia syndrome 23Dec 21, 2022
Mosaic variegated aneuploidy syndrome 12Dec 21, 2022
Mosaic variegated aneuploidy syndrome 32Dec 21, 2022
Mowat-Wilson syndrome3Dec 21, 2022
Moyamoya disease 21Oct 1, 2019
Mucopolysaccharidosis type 11Dec 21, 2022
Mucopolysaccharidosis type 61Dec 21, 2022
Mucopolysaccharidosis type 72Dec 21, 2022
Mucopolysaccharidosis, MPS-II2Dec 21, 2022
Mucopolysaccharidosis, MPS-III-A4Dec 21, 2022
Mucopolysaccharidosis, MPS-III-C2Dec 21, 2022
Mullegama-Klein-Martinez syndrome1Dec 21, 2022
Multiple acyl-CoA dehydrogenase deficiency6Dec 21, 2022
Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type1Aug 3, 2022
Multiple congenital anomalies-hypotonia-seizures syndrome 14Aug 3, 2022
Multiple congenital anomalies-hypotonia-seizures syndrome 23Dec 21, 2022
Multiple congenital anomalies-neurodevelopmental syndrome, x-linked1Aug 3, 2022
Multiple congenital anomalies/dysmorphic syndrome1Aug 3, 2022
Multiple endocrine neoplasia, type 12Dec 21, 2022
Multiple endocrine neoplasia, type 2a1Dec 21, 2022
Multiple fibrofolliculomas2Dec 21, 2022
Multiple gastrointestinal atresias1Nov 1, 2016
Multiple mitochondrial dysfunctions syndrome 21Oct 1, 2019
Multiple mitochondrial dysfunctions syndrome 31Dec 21, 2022
Multiple mitochondrial dysfunctions syndrome 63Dec 21, 2022
Multiple self-healing squamous epithelioma1Dec 21, 2022
Multiple synostoses syndrome 31Dec 21, 2022
Multisystemic smooth muscle dysfunction syndrome1Aug 3, 2022
Muscular dystrophy, limb-girdle, autosomal recessive 231Dec 21, 2022
Muscular dystrophy-dystroglycanopathy1Aug 3, 2022
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 41Dec 21, 2022
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A12Dec 21, 2022
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A31Aug 3, 2022
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A91Aug 3, 2022
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 101Dec 21, 2022
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 111Dec 21, 2022
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 121Dec 21, 2022
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 72Dec 21, 2022
Myasthenic syndrome, congenital, 24, presynaptic1Dec 21, 2022
Myasthenic syndrome, congenital, 25, presynaptic1Dec 21, 2022
Myhre syndrome2Dec 21, 2022
Myoclonic-atonic epilepsy4Dec 21, 2022
Myofibrillar myopathy 41Dec 21, 2022
Myofibrillar myopathy 51Dec 21, 2022
Myopathy caused by variation in FKTN2Dec 21, 2022
Myopathy caused by variation in POMGNT12Dec 21, 2022
Myopathy caused by variation in POMT11Dec 21, 2022
Myopathy, centronuclear, 51Dec 21, 2022
NAD(P)HX dehydratase deficiency2Dec 21, 2022
NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS AND SPASTICITY1Aug 3, 2022
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES1Dec 21, 2022
NEURODEVELOPMENTAL DISORDER WITH INFANTILE EPILEPTIC SPASMS1Dec 21, 2022
NEURODEVELOPMENTAL DISORDER, NONPROGRESSIVE, WITH SPASTICITY AND TRANSIENT OPISTHOTONUS2Dec 21, 2022
Nail-patella syndrome2Dec 21, 2022
Namaqualand hip dysplasia1Aug 3, 2022
Nance-Horan syndrome1Dec 21, 2022
Nemaline myopathy 101Dec 21, 2022
Nemaline myopathy 29Dec 21, 2022
Nemaline myopathy 61Aug 3, 2022
Nemaline myopathy 81Dec 21, 2022
Neonatal intrahepatic cholestasis due to citrin deficiency2Dec 21, 2022
Neonatal-onset encephalopathy with rigidity and seizures3Dec 21, 2022
Nephrogenic syndrome of inappropriate antidiuresis1Dec 21, 2022
Nephronophthisis 11Aug 30, 2020
Nephronophthisis 201Dec 21, 2022
Nephronophthisis 33Dec 21, 2022
Nephronophthisis 42Dec 21, 2022
Nephrotic syndrome3Dec 21, 2022
Nephrotic syndrome 141Aug 3, 2022
Nephrotic syndrome 151Dec 21, 2022
Nephrotic syndrome, type 25Dec 21, 2022
Nephrotic syndrome, type 33Dec 21, 2022
Netherton syndrome2Oct 1, 2019
Neu-Laxova syndrome 22Dec 21, 2022
Neurodegeneration with brain iron accumulation 2B1Dec 21, 2022
Neurodegeneration with brain iron accumulation 51Dec 21, 2022
Neurodegeneration with brain iron accumulation 61Dec 21, 2022
Neurodegeneration, childhood-onset, with hypotonia, respiratory insufficiency, and brain imaging abnormalities2Dec 21, 2022
Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia2Oct 1, 2019
Neurodegeneration, infantile-onset, biotin-responsive2Dec 21, 2022
Neurodevelopmental disorder71Dec 21, 2022
Neurodevelopmental disorder and language delay with or without structural brain abnormalities1Dec 21, 2022
Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity2Dec 21, 2022
Neurodevelopmental disorder with absent language and variable seizures1Dec 21, 2022
Neurodevelopmental disorder with alopecia and brain abnormalities1Aug 3, 2022
Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter2Dec 21, 2022
Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies6Dec 21, 2022
Neurodevelopmental disorder with central and peripheral motor dysfunction1Dec 21, 2022
Neurodevelopmental disorder with central hypotonia and dysmorphic facies2Dec 21, 2022
Neurodevelopmental disorder with cerebellar atrophy and with or without seizures3Dec 21, 2022
Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities3Dec 21, 2022
Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies6Dec 21, 2022
Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies3Dec 21, 2022
Neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia1Dec 21, 2022
Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy1Dec 21, 2022
Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities1Dec 21, 2022
Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities1Oct 1, 2019
Neurodevelopmental disorder with hypotonia, neuropathy, and deafness2Dec 21, 2022
Neurodevelopmental disorder with hypotonia, seizures, and absent language9Dec 21, 2022
Neurodevelopmental disorder with impaired speech and hyperkinetic movements1Dec 21, 2022
Neurodevelopmental disorder with involuntary movements1Dec 21, 2022
Neurodevelopmental disorder with language impairment and behavioral abnormalities1Dec 21, 2022
Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies3Dec 21, 2022
Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy1Dec 21, 2022
Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures1Dec 21, 2022
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart6Dec 21, 2022
Neurodevelopmental disorder with or without autism or seizures2Dec 21, 2022
Neurodevelopmental disorder with or without early-onset generalized epilepsy7Dec 21, 2022
Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA3Dec 21, 2022
Neurodevelopmental disorder with poor language and loss of hand skills1Dec 21, 2022
Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies1Dec 21, 2022
Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures6Dec 21, 2022
Neurodevelopmental disorder with seizures and brain atrophy1Dec 21, 2022
Neurodevelopmental disorder with severe motor impairment and absent language1Dec 21, 2022
Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies1Dec 21, 2022
Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures1Dec 21, 2022
Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to a point mutation2Dec 21, 2022
Neurofibromatosis, type 119Dec 21, 2022
Neurofibromatosis, type 21Dec 21, 2022
Neurofibromatosis-Noonan syndrome2Dec 21, 2022
Neurohypophyseal diabetes insipidus1Aug 3, 2022
Neuromuscular disease and ocular or auditory anomalies with or without seizures1Dec 21, 2022
Neuronal ceroid lipofuscinosis 11Dec 21, 2022
Neuronal ceroid lipofuscinosis 24Dec 21, 2022
Neuronal ceroid lipofuscinosis 32Dec 21, 2022
Neuronal ceroid lipofuscinosis 74Dec 21, 2022
Neurooculocardiogenitourinary syndrome1Dec 21, 2022
Neuropathy, hereditary sensory, type 1F1Aug 3, 2022
Neutral lipid storage myopathy2Dec 21, 2022
Nicolaides-Baraitser syndrome8Dec 21, 2022
Niemann-Pick disease, type C112Dec 21, 2022
Nizon-Isidor syndrome1Dec 21, 2022
Non-ketotic hyperglycinemia3Dec 21, 2022
Non-syndromic X-linked intellectual disability2Dec 21, 2022
Non-syndromic renal or urinary tract malformation1Aug 3, 2022
Nonprogressive cerebellar atxia with intellectual disability2Dec 21, 2022
Noonan syndrome1Dec 21, 2022
Noonan syndrome 120Dec 21, 2022
Noonan syndrome 104Dec 21, 2022
Noonan syndrome 121Dec 21, 2022
Noonan syndrome 131Aug 3, 2022
Noonan syndrome 31Dec 21, 2022
Noonan syndrome 47Dec 21, 2022
Noonan syndrome 55Dec 21, 2022
Noonan syndrome 61Dec 21, 2022
Noonan syndrome 71Aug 3, 2022
Noonan syndrome 84Dec 21, 2022
Noonan syndrome 93Dec 21, 2022
Noonan syndrome with multiple lentigines1Aug 3, 2022
Noonan syndrome-like disorder with loose anagen hair 11Dec 21, 2022
Noonan syndrome-like disorder with loose anagen hair 22Dec 21, 2022
Normophosphatemic familial tumoral calcinosis1Aug 3, 2022
O'Donnell-Luria-Rodan syndrome4Dec 21, 2022
Obesity due to SIM1 deficiency1Aug 3, 2022
Ocular albinism, type I1Dec 21, 2022
Ocular anterior segment dysgenesis2Dec 21, 2022
Oculocerebrofacial syndrome, Kaufman type2Dec 21, 2022
Oculocutaneous albinism1Aug 3, 2022
Oculocutaneous albinism type 1B2Aug 3, 2022
Oculofaciocardiodental syndrome1Dec 21, 2022
Oguchi disease-11Aug 3, 2022
Okur-Chung neurodevelopmental syndrome2Dec 21, 2022
Optic nerve edema-splenomegaly syndrome1Dec 21, 2022
Ornithine aminotransferase deficiency1Dec 21, 2022
Ornithine carbamoyltransferase deficiency3Dec 21, 2022
Orofacial cleft 111Dec 21, 2022
Orofaciodigital syndrome I1Aug 3, 2022
Orofaciodigital syndrome type 142Dec 21, 2022
Osteodysplastic primordial dwarfism, type 11Dec 21, 2022
Osteogenesis imperfecta type 111Dec 21, 2022
Osteogenesis imperfecta type 51Dec 21, 2022
Osteogenesis imperfecta type 72Dec 21, 2022
Osteogenesis imperfecta type 82Dec 21, 2022
Osteogenesis imperfecta type I14Dec 21, 2022
Osteogenesis imperfecta type III1Dec 21, 2022
Osteogenesis imperfecta with normal sclerae, dominant form1Dec 21, 2022
Osteogenesis imperfecta, recessive perinatal lethal1Nov 1, 2016
Otofaciocervical syndrome 22Dec 21, 2022
Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes1Aug 3, 2022
PHGDH deficiency1Aug 3, 2022
PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome3Dec 21, 2022
PIGG-related neurodevelopmental disorder1Oct 1, 2019
PIK3CA related overgrowth syndrome1Dec 21, 2022
PLA2G6-associated neurodegeneration1Dec 21, 2022
PMM2-congenital disorder of glycosylation8Dec 21, 2022
PTEN hamartoma tumor syndrome7Dec 21, 2022
PTPN23-related neurodevelopmental disorder1Oct 1, 2019
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome3Dec 21, 2022
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation4Dec 21, 2022
Pachyonychia congenita 31Dec 21, 2022
Paget disease of bone 61Aug 3, 2022
Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome6Dec 21, 2022
Pancreatic hypoplasia-diabetes-congenital heart disease syndrome1Dec 21, 2022
Parenti-Mignot neurodevelopmental syndrome1Dec 21, 2022
Parkinsonism-dystonia, infantile, 21Dec 21, 2022
Paroxysmal nonkinesigenic dyskinesia 11Dec 21, 2022
Partial androgen insensitivity syndrome1Aug 3, 2022
Pearson syndrome2Jun 12, 2019
Pelger-Hu√ęt anomaly1Nov 1, 2016
Pelizaeus-Merzbacher disease1Aug 3, 2022
Pendred syndrome9Dec 21, 2022
Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development2Dec 21, 2022
Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome1Dec 21, 2022
Periventricular heterotopia with microcephaly, autosomal recessive2Dec 21, 2022
Periventricular nodular heterotopia 92Aug 3, 2022
Perlman syndrome2Dec 21, 2022
Peroxisome biogenesis disorder2Dec 21, 2022
Peroxisome biogenesis disorder 14B1Dec 21, 2022
Peroxisome biogenesis disorder 1A (Zellweger)1Aug 3, 2022
Peroxisome biogenesis disorder 2B1Aug 3, 2022
Peroxisome biogenesis disorder 6B1Dec 21, 2022
Peroxisome biogenesis disorder due to PEX1 defect4Dec 21, 2022
Peroxisome biogenesis disorder due to PEX16 defect1Dec 21, 2022
Perrault syndrome 12Dec 21, 2022
Perrault syndrome 21Dec 21, 2022
Perrault syndrome 41Dec 21, 2022
Persistent Mullerian duct syndrome1Dec 21, 2022
Phelan-McDermid syndrome1Dec 21, 2022
Phenylketonuria10Dec 21, 2022
Pigmentary retinal dystrophy1Dec 21, 2022
Pilarowski-Bjornsson syndrome4Dec 21, 2022
Pitt-Hopkins syndrome8Dec 21, 2022
Pitt-Hopkins-like syndrome1Dec 21, 2022
Platelet-type bleeding disorder 151Dec 21, 2022
Poikiloderma with neutropenia1Dec 21, 2022
Poirier-Bienvenu neurodevelopmental syndrome2Dec 21, 2022
Polycystic kidney disease 216Dec 21, 2022
Polycystic kidney disease 3 with or without polycystic liver disease3Dec 21, 2022
Polycystic kidney disease 446Dec 21, 2022
Polycystic kidney disease 6 with or without polycystic liver disease1Dec 21, 2022
Polycystic kidney disease, adult type141Dec 21, 2022
Polycystic liver disease 11Dec 21, 2022
Polycystic liver disease 23Dec 21, 2022
Polydactyly, postaxial, type A11Aug 3, 2022
Polyendocrine-polyneuropathy syndrome1Aug 3, 2022
Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis4Aug 3, 2022
Polysyndactyly 41Aug 3, 2022
Pontocerebellar hypoplasia type 1B1Dec 21, 2022
Pontocerebellar hypoplasia type 2A1Aug 3, 2022
Pontocerebellar hypoplasia type 31Aug 3, 2022
Pontocerebellar hypoplasia type 65Dec 21, 2022
Pontocerebellar hypoplasia type 92Aug 30, 2020
Porencephaly 22Dec 21, 2022
Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome1Dec 21, 2022
Predisposition to invasive fungal disease due to CARD9 deficiency1Aug 3, 2022
Premature ovarian failure 141Dec 21, 2022
Premature ovarian insufficiency2Sep 16, 2020
Primary ciliary dyskinesia 111Dec 21, 2022
Primary ciliary dyskinesia 142Dec 21, 2022
Primary ciliary dyskinesia 221Dec 21, 2022
Primary ciliary dyskinesia 271Dec 21, 2022
Primary ciliary dyskinesia 35Dec 21, 2022
Primary ciliary dyskinesia 341Dec 21, 2022
Primary ciliary dyskinesia 76Dec 21, 2022
Primary coenzyme Q10 deficiency 82Dec 21, 2022
Primary dilated cardiomyopathy10Dec 21, 2022
Primary hyperoxaluria type 31Dec 21, 2022
Primary hyperoxaluria, type I3Dec 21, 2022
Primary hyperoxaluria, type II2Dec 21, 2022
Primary hypomagnesemia1Aug 30, 2020
Progressive familial heart block type IB1Aug 3, 2022
Progressive familial intrahepatic cholestasis type 21Dec 21, 2022
Progressive myoclonic epilepsy type 32Aug 3, 2022
Progressive pseudorheumatoid dysplasia2Dec 21, 2022
Progressive sclerosing poliodystrophy1Oct 1, 2019
Propionic acidemia3Dec 21, 2022
Proteinuria, chronic benign2Aug 3, 2022
Protoporphyria, erythropoietic, 12Dec 21, 2022
Pseudoxanthoma elasticum4Dec 21, 2022
Psoriasis 21Dec 21, 2022
Pulmonary hypertension, primary, 13Dec 21, 2022
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome1Dec 21, 2022
Pyridoxine-dependent epilepsy2Dec 21, 2022
Pyruvate dehydrogenase E1-alpha deficiency7Dec 21, 2022
Pyruvate dehydrogenase E3 deficiency1Dec 21, 2022
Qualitative or quantitative defects of perlecan1Aug 3, 2022
RADIO-TARTAGLIA SYNDROME3Dec 21, 2022
RFT1-congenital disorder of glycosylation1Aug 3, 2022
Radioulnar synostosis with amegakaryocytic thrombocytopenia 23Dec 21, 2022
Rafiq syndrome2Dec 21, 2022
Rauch-Steindl syndrome1Aug 3, 2022
Recessive dystrophic epidermolysis bullosa2Nov 9, 2017
Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome2Aug 3, 2022
Renal carnitine transport defect1Aug 3, 2022
Renal cysts and diabetes syndrome15Dec 21, 2022
Renal hypomagnesemia 5 with ocular involvement1Dec 21, 2022
Renal tubular acidosis with progressive nerve deafness3Dec 21, 2022
Renpenning syndrome1Aug 3, 2022
Reticular dysgenesis1Aug 3, 2022
Retinal dystrophy with or without macular staphyloma1Dec 21, 2022
Retinitis pigmentosa 101Dec 21, 2022
Retinitis pigmentosa 112Dec 21, 2022
Retinitis pigmentosa 131Dec 21, 2022
Retinitis pigmentosa 21Dec 21, 2022
Retinitis pigmentosa 253Dec 21, 2022
Retinitis pigmentosa 262Dec 21, 2022
Retinitis pigmentosa 301Dec 21, 2022
Retinitis pigmentosa 311Dec 21, 2022
Retinitis pigmentosa 392Dec 21, 2022
Retinitis pigmentosa 433Dec 21, 2022
Retinitis pigmentosa 702Dec 21, 2022
Retinitis pigmentosa 711Dec 21, 2022
Retinitis pigmentosa 781Dec 21, 2022
Retinoblastoma1Dec 21, 2022
Rett syndrome2Dec 21, 2022
Rett syndrome, congenital variant2Dec 21, 2022
Rhizomelic chondrodysplasia punctata type 11Dec 21, 2022
Ritscher-Schinzel syndrome 23Dec 21, 2022
Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked1Aug 3, 2022
Rothmund-Thomson syndrome type 24Dec 21, 2022
Rubinstein-Taybi syndrome due to CREBBP mutations9Dec 21, 2022
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency5Dec 21, 2022
SATB2 associated disorder4Dec 21, 2022
SIN3A-related intellectual disability syndrome3Dec 21, 2022
SLC35A2-congenital disorder of glycosylation1Dec 21, 2022
SLC39A8-CDG1Dec 21, 2022
SRD5A3-congenital disorder of glycosylation1Aug 3, 2022
SSR4-congenital disorder of glycosylation2Dec 21, 2022
Saethre-Chotzen syndrome1Dec 21, 2022
Sandhoff disease2Dec 21, 2022
Schimke immuno-osseous dysplasia2Dec 21, 2022
Schinzel-Giedion syndrome3Dec 21, 2022
Schuurs-Hoeijmakers syndrome2Dec 21, 2022
Schwannomatosis 23Dec 21, 2022
Schwartz-Jampel syndrome type 11Dec 21, 2022
Seckel syndrome 21Aug 3, 2022
Seizures, benign familial infantile, 22Dec 21, 2022
Seizures, benign familial neonatal, 12Dec 21, 2022
Seizures, early-onset, with neurodegeneration and brain calcifications1Dec 21, 2022
Self-limited familial and non-familial infantile seizures1Dec 21, 2022
Sengers syndrome2Dec 21, 2022
Septo-optic dysplasia sequence1Nov 8, 2022
Severe X-linked myotubular myopathy4Dec 21, 2022
Severe combined immunodeficiency due to DNA-PKcs deficiency1Dec 21, 2022
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency1Aug 3, 2022
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive1Dec 21, 2022
Severe early-childhood-onset retinal dystrophy15Dec 21, 2022
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome2Dec 21, 2022
Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome2Dec 21, 2022
Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome1Dec 21, 2022
Severe intellectual disability-progressive spastic diplegia syndrome8Dec 21, 2022
Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome1Aug 3, 2022
Severe myoclonic epilepsy in infancy4Dec 21, 2022
Shashi-Pena syndrome2Dec 21, 2022
Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 11Aug 3, 2022
Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay1Dec 21, 2022
Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome1Aug 3, 2022
Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome1Dec 21, 2022
Short stature-optic atrophy-Pelger-HuC+t anomaly syndrome1Aug 3, 2022
Short-rib thoracic dysplasia 10 with or without polydactyly3Dec 21, 2022
Short-rib thoracic dysplasia 15 with polydactyly2Dec 21, 2022
Short-rib thoracic dysplasia 7 with or without polydactyly2Dec 21, 2022
Shprintzen-Goldberg syndrome2Dec 21, 2022
Shukla-Vernon syndrome5Dec 21, 2022
Shwachman-Diamond syndrome 12Dec 21, 2022
Shwachman-Diamond syndrome 21Dec 21, 2022
Sialic acid storage disease, severe infantile type2Dec 21, 2022
Sialidosis type 22Dec 21, 2022
Sick sinus syndrome 2, autosomal dominant1Dec 21, 2022
Sifrim-Hitz-Weiss syndrome11Dec 21, 2022
Simpson-Golabi-Behmel syndrome type 11Aug 3, 2022
Sitosterolemia 11Aug 3, 2022
Sitosterolemia 21Aug 3, 2022
Situs inversus totalis2Dec 21, 2022
Skeletal dysplasia, mild, with joint laxity and advanced bone age1Dec 21, 2022
Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome1Dec 21, 2022
Skraban-Deardorff syndrome1Aug 3, 2022
Smith-Lemli-Opitz syndrome4Dec 21, 2022
Smith-Magenis syndrome3Dec 21, 2022
Snijders Blok-Campeau syndrome8Dec 21, 2022
Sorbitol dehydrogenase deficiency with peripheral neuropathy2Dec 21, 2022
Sotos syndrome1Dec 21, 2022
Sotos syndrome 111Dec 21, 2022
Spastic ataxia 21Dec 21, 2022
Spastic ataxia 31Aug 3, 2022
Spastic ataxia 42Dec 21, 2022
Spastic paraplegia 52, autosomal recessive1Aug 3, 2022
Spastic paraplegia, intellectual disability, nystagmus, and obesity;3Dec 21, 2022
Spasticity-ataxia-gait anomalies syndrome1Dec 21, 2022
Spinal muscular atrophy4Dec 21, 2022
Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits2Dec 21, 2022
Spinocerebellar ataxia type 131Aug 3, 2022
Spinocerebellar ataxia type 141Aug 3, 2022
Spinocerebellar ataxia type 19/223Dec 21, 2022
Spinocerebellar ataxia type 211Dec 21, 2022
Spinocerebellar ataxia type 231Dec 21, 2022
Spinocerebellar ataxia type 262Dec 21, 2022
Spinocerebellar ataxia type 381Dec 21, 2022
Spinocerebellar ataxia type 422Dec 21, 2022
Sponastrime dysplasia2Dec 21, 2022
Spondyloepimetaphyseal dysplasia with multiple dislocations2Dec 21, 2022
Spondyloepimetaphyseal dysplasia, Bieganski type1Dec 21, 2022
Spondyloepiphyseal dysplasia congenita1Dec 21, 2022
Spondyloepiphyseal dysplasia with congenital joint dislocations1Aug 3, 2022
Spondylometaphyseal dysplasia - Sutcliffe type1Dec 21, 2022
Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome1Dec 21, 2022
Spongy degeneration of central nervous system1Aug 3, 2022
Squalene synthase deficiency1Dec 21, 2022
Stargardt disease6Dec 21, 2022
Steatocystoma multiplex1Dec 21, 2022
Steel syndrome1Dec 21, 2022
Stickler syndrome type 112Dec 21, 2022
Stickler syndrome, type 43Dec 21, 2022
Stickler syndrome, type I, nonsyndromic ocular2Dec 21, 2022
Striatonigral degeneration, childhood-onset1Dec 21, 2022
Structural heart defects and renal anomalies syndrome1Dec 21, 2022
Subcortical band heterotopia1Dec 21, 2022
Succinate-semialdehyde dehydrogenase deficiency1Dec 21, 2022
Sudden cardiac failure, infantile5Dec 21, 2022
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A2Dec 21, 2022
Supravalvar aortic stenosis1Dec 21, 2022
Sweeney-Cox syndrome1Aug 3, 2022
Syndromic X-linked intellectual disability 142Aug 3, 2022
Syndromic X-linked intellectual disability 341Dec 21, 2022
Syndromic X-linked intellectual disability 941Dec 21, 2022
Syndromic X-linked intellectual disability Claes-Jensen type6Dec 21, 2022
Syndromic X-linked intellectual disability Najm type1Aug 3, 2022
Syndromic X-linked intellectual disability Nascimento type1Dec 21, 2022
Syndromic X-linked intellectual disability Raymond type2Dec 21, 2022
Syndromic X-linked intellectual disability Siderius type3Dec 21, 2022
Syndromic disease4Aug 3, 2022
Syndromic intellectual disability1Aug 3, 2022
Syndromic microphthalmia type 51Dec 21, 2022
TARP syndrome4Dec 21, 2022
TELO2-related intellectual disability-neurodevelopmental disorder2Dec 21, 2022
THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome4Dec 21, 2022
TNF receptor-associated periodic fever syndrome (TRAPS)1Dec 21, 2022
Tall stature-intellectual disability-facial dysmorphism syndrome7Dec 21, 2022
Tay-Sachs disease7Dec 21, 2022
Tay-Sachs disease, variant AB1Aug 3, 2022
Telangiectasia, hereditary hemorrhagic, type 114Dec 21, 2022
Telangiectasia, hereditary hemorrhagic, type 28Dec 21, 2022
Temple-Baraitser syndrome1Aug 3, 2022
Tenorio syndrome1Dec 21, 2022
Tessadori-van Haaften neurodevelopmental syndrome 12Dec 21, 2022
Testicular anomalies with or without congenital heart disease3Dec 21, 2022
Testosterone 17-beta-dehydrogenase deficiency1Dec 21, 2022
Tetralogy of Fallot2Dec 21, 2022
Thrombocytopenia 52Aug 3, 2022
Thyroglobulin synthesis defect1Dec 21, 2022
Timothy syndrome5Dec 21, 2022
Timothy syndrome type 11Aug 3, 2022
Tolchin-Le Caignec syndrome2Dec 21, 2022
Tooth agenesis, selective, 71Dec 21, 2022
Torsion dystonia 62Dec 21, 2022
Townes-Brocks syndrome 12Dec 21, 2022
Treacher Collins syndrome 15Dec 21, 2022
Treacher Collins syndrome 41Dec 21, 2022
Trichohepatoenteric syndrome 11Dec 21, 2022
Trichohepatoenteric syndrome 21Dec 21, 2022
Trichorhinophalangeal dysplasia type I3Dec 21, 2022
Trichorhinophalangeal syndrome type I or III2Aug 3, 2022
Trimethylaminuria1Aug 3, 2022
Tuberous sclerosis 13Dec 21, 2022
Tuberous sclerosis 210Dec 21, 2022
Tumoral calcinosis, hyperphosphatemic, familial, 12Aug 3, 2022
Type 2 collagenopathy3Dec 21, 2022
Tyrosinase-negative oculocutaneous albinism3Dec 21, 2022
Tyrosinase-positive oculocutaneous albinism10Dec 21, 2022
Ullrich congenital muscular dystrophy 21Dec 21, 2022
Usher syndrome type 1C3Dec 21, 2022
Usher syndrome type 1D4Dec 21, 2022
Usher syndrome type 22Dec 21, 2022
Usher syndrome type 2A17Dec 21, 2022
Usher syndrome type 2C2Aug 3, 2022
Usmani-Riazuddin syndrome, autosomal dominant1Dec 21, 2022
VEXAS syndrome1Aug 3, 2022
Van Maldergem syndrome 23Dec 21, 2022
Vanishing white matter disease11Dec 21, 2022
Variegate porphyria3Dec 21, 2022
Vasculitis due to ADA2 deficiency1Dec 21, 2022
Vertebral, cardiac, renal, and limb defects syndrome 31Aug 3, 2022
Ververi-Brady syndrome2Dec 21, 2022
Very long chain acyl-CoA dehydrogenase deficiency5Dec 21, 2022
Visceral myopathy2Dec 21, 2022
Vissers-Bodmer syndrome3Dec 21, 2022
Waardenburg syndrome type 2A1Aug 15, 2019
Wagner syndrome1Aug 3, 2022
Warburg micro syndrome 22Dec 21, 2022
Warsaw breakage syndrome4Dec 21, 2022
Weaver syndrome2Dec 21, 2022
Weill-Marchesani syndrome 11Aug 3, 2022
Weiss-kruszka syndrome3Dec 21, 2022
Wieacker-Wolff syndrome2Dec 21, 2022
Wiedemann-Steiner syndrome18Dec 21, 2022
Wilson disease10Dec 21, 2022
Wilson-Turner syndrome4Dec 21, 2022
Wiskott-Aldrich syndrome2Aug 3, 2022
X-linked Alport syndrome20Dec 21, 2022
X-linked Emery-Dreifuss muscular dystrophy1Dec 21, 2022
X-linked Opitz G/BBB syndrome1Dec 21, 2022
X-linked agammaglobulinemia3Aug 3, 2022
X-linked chondrodysplasia punctata 12Dec 21, 2022
X-linked complicated corpus callosum dysgenesis1Aug 3, 2022
X-linked cone-rod dystrophy 32Aug 3, 2022
X-linked distal spinal muscular atrophy type 31Aug 3, 2022
X-linked hydrocephalus syndrome2Dec 21, 2022
X-linked intellectual disability1Aug 3, 2022
X-linked intellectual disability Cabezas type4Dec 21, 2022
X-linked intellectual disability with marfanoid habitus1Dec 21, 2022
X-linked intellectual disability, Cantagrel type2Dec 21, 2022
X-linked intellectual disability, Stocco dos Santos type1Aug 3, 2022
X-linked intellectual disability, van Esch type1Dec 21, 2022
X-linked intellectual disability-cerebellar hypoplasia syndrome1Dec 21, 2022
X-linked intellectual disability-psychosis-macroorchidism syndrome1Dec 21, 2022
X-linked intellectual disability-short stature-overweight syndrome1Dec 21, 2022
X-linked lymphoproliferative disease due to SH2D1A deficiency1Dec 21, 2022
X-linked mixed hearing loss with perilymphatic gusher2Dec 21, 2022
X-linked recessive nephrolithiasis with renal failure1Dec 21, 2022
X-linked syndromic intellectual disability1Aug 3, 2022
Xeroderma pigmentosum group A2Dec 21, 2022
Xeroderma pigmentosum group B2Dec 21, 2022
Xeroderma pigmentosum, group D2Dec 21, 2022
ZTTK syndrome9Dec 21, 2022
Zinc deficiency, transient neonatal1Dec 21, 2022
beta Thalassemia1Dec 21, 2022