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Centogene AG - the Rare Disease Company

General information

Centogene AG - the Rare Disease Company

Am Strande 7
CENTOGENE New Headquarter
Rostock
Mecklenburg-Vorpommern
Germany - 18055
https://www.centogene.com/company/contact.html
Organization ID: 279559

Personnel

View this laboratory in GTR

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 1189

Gene

GeneSubmissionsLast Updated
AARS11Dec 21, 2021
AARS21Dec 21, 2021
ABCA11Nov 29, 2021
ABCA44Dec 21, 2021
ABCA73Dec 21, 2021
ABCB116Aug 5, 2020
ABCB43Dec 21, 2021
ABCB71Dec 21, 2021
ABCC62Dec 21, 2021
ABCC81Jul 14, 2020
ABCC91Jul 14, 2020
ABCD11Dec 21, 2021
ABCD41Dec 21, 2021
ABHD51Jul 14, 2020
ACADVL1Aug 5, 2020
ACTA11Dec 21, 2021
ACTA21Aug 5, 2020
ACTB3Dec 21, 2021
ACTG13Dec 21, 2021
ACTG21Dec 21, 2021
ADA22Dec 21, 2021
ADAT33Dec 21, 2021
ADCY51Dec 21, 2021
ADD31Dec 21, 2021
ADGRV12Dec 21, 2021
AFG3L24Dec 21, 2021
AGL6Jul 14, 2020
AGPS1Dec 21, 2021
AGXT1Jul 14, 2020
AHDC11Dec 21, 2021
ALAS21Dec 21, 2021
ALDH18A11Dec 21, 2021
ALDOB2Aug 5, 2020
ALPL1Jul 14, 2020
ALS21Jul 14, 2020
AMT1Dec 21, 2021
ANK11Jul 14, 2020
ANK21Dec 21, 2021
ANKH1Aug 5, 2020
ANKRD114Dec 21, 2021
ANO31Dec 21, 2021
ANTXR21Aug 5, 2020
AP5Z11Aug 5, 2020
APC1Aug 5, 2020
APOC21Dec 21, 2021
APOC4-APOC21Dec 21, 2021
APOE1Dec 21, 2021
APP1Dec 21, 2021
ARFGEF1-DT1Dec 21, 2021
ARG12Dec 21, 2021
ARHGEF91Aug 5, 2020
ARID1B3Dec 21, 2021
ARID21Dec 21, 2021
ARSA1Aug 5, 2020
ARSB1Aug 5, 2020
ARSL1Aug 5, 2020
ARX3Dec 21, 2021
ASCC12Dec 21, 2021
ASL1Jul 14, 2020
ASPA2Jul 14, 2020
ASPH2Dec 21, 2021
ASS11Aug 5, 2020
ASXL32Dec 21, 2021
ATAD3A1Dec 21, 2021
ATL12Dec 21, 2021
ATM5Dec 21, 2021
ATP13A21Dec 21, 2021
ATP1A21Dec 21, 2021
ATP1A34Dec 21, 2021
ATP2B32Dec 21, 2021
ATP5F1A1Dec 21, 2021
ATP6V0A42Jul 14, 2020
ATP7A1Dec 21, 2021
ATP7B6Dec 21, 2021
ATP8B12Jul 14, 2020
ATRIP2Dec 21, 2021
ATRIP-TREX12Dec 21, 2021
ATRX2Dec 21, 2021
ATXN7L3-AS11Dec 21, 2021
BCL11B1Dec 21, 2021
BCOR2Dec 21, 2021
BCORL11Dec 21, 2021
BLK1Dec 21, 2021
BLM1Aug 5, 2020
BMPR1A1Jul 14, 2020
BPTF1Dec 21, 2021
BRCA11Jul 14, 2020
BRCA21Dec 21, 2021
BRPF11Dec 21, 2021
BRWD31Dec 21, 2021
BTD4Dec 21, 2021
BTK2Jul 14, 2020
C11orf651Aug 5, 2020
C1QA1Aug 5, 2020
C1R1Jul 14, 2020
C61Aug 5, 2020
CA5A1Jul 14, 2020
CACNA1A5Dec 21, 2021
CACNA1C2Dec 21, 2021
CACNA1C-AS11Dec 21, 2021
CACNA1D2Dec 21, 2021
CACNA1F1Dec 21, 2021
CACNA1G2Dec 21, 2021
CACNA1H2Dec 21, 2021
CACNA1S2Dec 21, 2021
CAMK2B1Dec 21, 2021
CAMTA11Dec 21, 2021
CANT11Aug 5, 2020
CAPN11Aug 5, 2020
CASD11Dec 21, 2021
CASK3Dec 21, 2021
CBS1Jul 14, 2020
CC2D1A2Dec 21, 2021
CCDC88C1Dec 21, 2021
CCM21Aug 5, 2020
CCNH2Dec 21, 2021
CD461Dec 21, 2021
CDAN12Dec 21, 2021
CDC421Jul 14, 2020
CDC451Dec 21, 2021
CDK132Dec 21, 2021
CEP2901Dec 21, 2021
CFHR51Dec 21, 2021
CFTR5Dec 21, 2021
CFTR-AS12Dec 21, 2021
CHD31Dec 21, 2021
CHD41Dec 21, 2021
CHD71Dec 21, 2021
CHD87Dec 21, 2021
CHEK21Aug 5, 2020
CHMP2B2Dec 21, 2021
CHRNA41Dec 21, 2021
CHRNB11Dec 21, 2021
CHRNB21Dec 21, 2021
CHRNE1Jul 14, 2020
CHRNG1Nov 29, 2021
CIC2Dec 21, 2021
CLDN101Aug 5, 2020
CLDN161Aug 5, 2020
CLN61Jul 14, 2020
CLTC3Dec 21, 2021
CNGA31Jul 14, 2020
CNGB31Aug 5, 2020
CNTN22Dec 21, 2021
CNTNAP22Aug 5, 2020
COG61Aug 5, 2020
COL10A11Dec 21, 2021
COL11A21Dec 21, 2021
COL12A14Dec 21, 2021
COL17A11Jul 14, 2020
COL18A11Aug 5, 2020
COL1A13Dec 21, 2021
COL1A21Dec 21, 2021
COL2A12Dec 21, 2021
COL4A13Dec 21, 2021
COL4A21Dec 21, 2021
COL4A312Feb 22, 2022
COL4A48Feb 22, 2022
COL4A511Feb 22, 2022
COL5A14Dec 21, 2021
COL6A11Dec 21, 2021
COL6A23Dec 21, 2021
COL7A11Aug 5, 2020
COLQ1Dec 21, 2021
COMP2Dec 21, 2021
COQ43Dec 21, 2021
COQ8A1Dec 21, 2021
CPA61Dec 21, 2021
CPOX1Dec 21, 2021
CPT1C1Dec 21, 2021
CPT21Dec 21, 2021
CTC12Dec 21, 2021
CTCF1Dec 21, 2021
CTNNA31Dec 21, 2021
CTNNB11Dec 21, 2021
CTNS1Jul 14, 2020
CUL31Aug 5, 2020
CUX11Dec 21, 2021
CYP1B11Aug 5, 2020
CYP21A21Jul 14, 2020
CYP24A11Dec 21, 2021
CYP27A11Jul 14, 2020
CYP2U11Aug 5, 2020
CYP2U1-AS11Aug 5, 2020
DBT1Jul 14, 2020
DCDC21Jul 14, 2020
DCHS11Dec 21, 2021
DDC1Jul 14, 2020
DEAF12Dec 21, 2021
DEPDC52Dec 21, 2021
DISP12Dec 21, 2021
DLD1Jul 14, 2020
DLL41Aug 5, 2020
DMD2Aug 5, 2020
DNA22Dec 21, 2021
DNAH111Aug 5, 2020
DNAJB61Dec 21, 2021
DNM11Dec 21, 2021
DNM21Aug 5, 2020
DNMT11Dec 21, 2021
DNMT3A1Aug 5, 2020
DPYD2Nov 29, 2021
DSG21Jul 14, 2020
DSP1Dec 21, 2021
DST2Dec 21, 2021
DUOX21Nov 29, 2021
DUOXA21Aug 5, 2020
DVL31Dec 21, 2021
DYRK1A1Aug 5, 2020
DYSF1Aug 5, 2020
ECEL12Dec 21, 2021
EEF21Dec 21, 2021
EHMT11Aug 5, 2020
ELOVL41Dec 21, 2021
EMD1Aug 5, 2020
ENO32Dec 21, 2021
ENPP11Dec 21, 2021
EP3005Dec 21, 2021
EPCAM2Jul 14, 2020
ERBB42Dec 21, 2021
ERCC61Aug 5, 2020
ERCC6-PGBD31Aug 5, 2020
ERMARD1Dec 21, 2021
ETFDH1Jul 14, 2020
ETHE12Aug 5, 2020
EVC21Dec 21, 2021
EXT22Dec 21, 2021
FA2H1Jul 14, 2020
FAH3Jul 14, 2020
FANCA1Dec 21, 2021
FANCF1Dec 21, 2021
FAT21Dec 21, 2021
FBN12Dec 21, 2021
FBP13Jul 14, 2020
FBXO112Dec 21, 2021
FBXO71Dec 21, 2021
FCSK1Dec 21, 2021
FGD11Dec 21, 2021
FGFR14Dec 21, 2021
FGFR33Dec 21, 2021
FIG41Dec 21, 2021
FLG2Nov 29, 2021
FLNA1Dec 21, 2021
FLNC2Dec 21, 2021
FLNC-AS11Dec 21, 2021
FN12Dec 21, 2021
FOXG11Aug 5, 2020
FOXP13Dec 21, 2021
FOXP21Dec 21, 2021
FRMPD41Dec 21, 2021
FRRS1L1Aug 5, 2020
FTSJ11Dec 21, 2021
FUCA11Jul 14, 2020
G6PC12Jul 14, 2020
G6PD6Dec 21, 2021
GAA3Dec 21, 2021
GABBR21Aug 5, 2020
GABRA13Dec 21, 2021
GALC1Aug 5, 2020
GALNS6Dec 21, 2021
GALT2Jul 14, 2020
GATAD11Jul 14, 2020
GATAD2B1Dec 21, 2021
GBA18Dec 21, 2021
GCDH1Dec 21, 2021
GCH12Dec 21, 2021
GCK1Dec 21, 2021
GDAP21Dec 21, 2021
GDF51Dec 21, 2021
GDF5-AS11Dec 21, 2021
GJB21Dec 21, 2021
GLA4Dec 21, 2021
GLB13Jul 14, 2020
GLDN1Aug 5, 2020
GMNN1Dec 21, 2021
GNAO11Dec 21, 2021
GNB51Jul 14, 2020
GNE1Dec 21, 2021
GNPTAB2Aug 5, 2020
GREB1L1Dec 21, 2021
GRIN11Dec 21, 2021
GRIN2A2Dec 21, 2021
GRIN2B2Dec 21, 2021
GRIN2D3Dec 21, 2021
GTPBP22Aug 5, 2020
GUCY2D1Dec 21, 2021
HARS11Dec 21, 2021
HBA11Dec 21, 2021
HBB6Nov 29, 2021
HDAC82Dec 21, 2021
HDC1Dec 21, 2021
HERC22Dec 21, 2021
HEXA3Jul 14, 2020
HEXB3Aug 5, 2020
HFE2Nov 29, 2021
HFE-AS11Nov 29, 2021
HIBCH1Dec 21, 2021
HIVEP22Dec 21, 2021
HMBS3Dec 21, 2021
HNF4A1Dec 21, 2021
HNRNPH21Dec 21, 2021
HNRNPU1Dec 21, 2021
HRAS1Dec 21, 2021
HS6ST21Dec 21, 2021
HUWE13Dec 21, 2021
HYLS11Aug 5, 2020
IDUA1Jul 14, 2020
IFT1402Aug 5, 2020
IFT571Aug 5, 2020
IGH1Jul 14, 2020
IGHM1Jul 14, 2020
IGHMBP21Dec 21, 2021
IL1RAPL11Dec 21, 2021
IL21R1Jul 14, 2020
IQSEC21Dec 21, 2021
IRAK1BP11Dec 21, 2021
IRF2BP21Dec 21, 2021
ITM2B1Dec 21, 2021
ITPA1Jul 14, 2020
ITPR11Dec 21, 2021
IVD1Jul 14, 2020
JAG12Dec 21, 2021
JAM31Aug 5, 2020
JMJD81Dec 21, 2021
KAT6B2Dec 21, 2021
KCNA51Dec 21, 2021
KCNC11Dec 21, 2021
KCND31Dec 21, 2021
KCNH11Aug 5, 2020
KCNN31Dec 21, 2021
KCNN41Dec 21, 2021
KCNQ24Dec 21, 2021
KCNQ31Dec 21, 2021
KDM6A1Dec 21, 2021
KIAA05862Dec 21, 2021
KIDINS2201Dec 21, 2021
KIF1A4Dec 21, 2021
KIF1B1Dec 21, 2021
KIF221Aug 5, 2020
KIF5A2Dec 21, 2021
KIFBP1Aug 5, 2020
KIT1Dec 21, 2021
KMT2A2Dec 21, 2021
KMT2B2Dec 21, 2021
KMT2C1Dec 21, 2021
KMT2D5Dec 21, 2021
KMT5B1Dec 21, 2021
L1CAM1Nov 29, 2021
L2HGDH2Dec 21, 2021
LAMA21Aug 5, 2020
LAMB21Aug 5, 2020
LAMB32Dec 21, 2021
LARP71Aug 5, 2020
LAS1L1Dec 21, 2021
LDB31Dec 21, 2021
LDLR3Dec 21, 2021
LGI42Aug 5, 2020
LIFR1Dec 21, 2021
LINC006301Dec 21, 2021
LIPA1Dec 21, 2021
LMX1B1Dec 21, 2021
LOC1027240582Dec 21, 2021
LOC1060990625Nov 29, 2021
LOC1066279818Dec 21, 2021
LOC1067808001Jul 14, 2020
LOC1068046131Dec 21, 2021
LOC1071335106Nov 29, 2021
LOC1096106311Aug 5, 2020
LOC1100063192Aug 5, 2020
LOC1101212691Dec 21, 2021
LOC1101214861Dec 21, 2021
LOC1116744721Jul 14, 2020
LOC1148278501Dec 21, 2021
LOX1Aug 5, 2020
LPL4Jul 14, 2020
LRBA5Dec 21, 2021
LRP42Dec 21, 2021
LRP51Dec 21, 2021
LRRC561Dec 21, 2021
LRRK21Dec 21, 2021
LZTR12Dec 21, 2021
MAB21L21Aug 5, 2020
MACF11Dec 21, 2021
MAGEL21Aug 5, 2020
MAN2B12Aug 5, 2020
MAOA1Dec 21, 2021
MAP1B1Dec 21, 2021
MAPK8IP31Dec 21, 2021
MAPT1Dec 21, 2021
MASP12Dec 21, 2021
MBD53Dec 21, 2021
MCOLN11Aug 5, 2020
MECP24Dec 21, 2021
MED122Dec 21, 2021
MED12L1Dec 21, 2021
MED131Dec 21, 2021
MED13L3Dec 21, 2021
MED173Dec 21, 2021
MED232Dec 21, 2021
MEF2C1Dec 21, 2021
MEFV2Dec 21, 2021
MEIS21Dec 21, 2021
METTL231Aug 5, 2020
MFF-DT12Feb 22, 2022
MHRT1Aug 5, 2020
MIB11Dec 21, 2021
MILR11Dec 21, 2021
MIR302CHG1Aug 5, 2020
MLH11Jul 14, 2020
MMAA1Jul 14, 2020
MMACHC1Jul 14, 2020
MOGS1Aug 5, 2020
MORC22Dec 21, 2021
MPDZ1Aug 5, 2020
MPV171Jul 14, 2020
MPZ1Dec 21, 2021
MSH21Dec 21, 2021
MSH31Nov 29, 2021
MSH63Dec 21, 2021
MTHFR1Nov 29, 2021
MTOR2Dec 21, 2021
MYBPC34Dec 21, 2021
MYH61Dec 21, 2021
MYH72Dec 21, 2021
MYL21Dec 21, 2021
MYO5A1Dec 21, 2021
MYOT1Dec 21, 2021
MYT1L1Dec 21, 2021
NAGA1Aug 5, 2020
NAGLU3Jul 14, 2020
NALCN1Jul 14, 2020
NBAS2Dec 21, 2021
NDUFS41Aug 5, 2020
NDUFS61Dec 21, 2021
NDUFV11Jul 14, 2020
NEB1Dec 21, 2021
NEDD4L1Dec 21, 2021
NEFH1Dec 21, 2021
NEXMIF2Aug 5, 2020
NF13Dec 21, 2021
NFIB1Dec 21, 2021
NFIX1Dec 21, 2021
NFKB22Dec 21, 2021
NFKBIA1Dec 21, 2021
NIPSNAP3B1Nov 29, 2021
NKX6-23Aug 5, 2020
NLRP121Dec 21, 2021
NLRP31Dec 21, 2021
NOD21Dec 21, 2021
NOTCH31Dec 21, 2021
NPC178Sep 16, 2022
NPHS11Aug 5, 2020
NR3C12Dec 21, 2021
NRXN11Dec 21, 2021
NSD12Dec 21, 2021
NSUN21Aug 5, 2020
NT5DC11Dec 21, 2021
NUS11Dec 21, 2021
OGT1Dec 21, 2021
OPHN12Dec 21, 2021
OXCT11Jul 14, 2020
P2RX21Dec 21, 2021
PACS11Dec 21, 2021
PAH6Dec 21, 2021
PAK12Dec 21, 2021
PARS21Aug 5, 2020
PAX61Aug 5, 2020
PBX11Aug 5, 2020
PCCA1Dec 21, 2021
PCCB1Aug 5, 2020
PCLO2Dec 21, 2021
PDE11A4Dec 21, 2021
PDE11A-AS12Dec 21, 2021
PDGFRA1Dec 21, 2021
PDGFRB2Dec 21, 2021
PEX12Jul 14, 2020
PEX21Aug 5, 2020
PEX63Dec 21, 2021
PGAP12Dec 21, 2021
PGAP32Nov 29, 2021
PHEX1Dec 21, 2021
PHIP1Dec 21, 2021
PHKA11Dec 21, 2021
PHKG22Jul 14, 2020
PI4KA1Dec 21, 2021
PIEZO21Aug 5, 2020
PIGN4Dec 21, 2021
PIGO2Dec 21, 2021
PIK3CA3Dec 21, 2021
PINK12Dec 21, 2021
PINK1-AS2Dec 21, 2021
PKD11Dec 21, 2021
PKD1L12Dec 21, 2021
PKD21Dec 21, 2021
PKD2L2-DT1Dec 21, 2021
PLA2G64Dec 21, 2021
PLCG22Dec 21, 2021
PLEC2Dec 21, 2021
PMM23Dec 21, 2021
PMP21Dec 21, 2021
PMS21Dec 21, 2021
PNP1Dec 21, 2021
POGZ2Dec 21, 2021
POLA11Dec 21, 2021
POLG4Dec 21, 2021
POLG21Dec 21, 2021
POLR1A1Dec 21, 2021
POLR1C3Dec 21, 2021
POLR3A1Aug 5, 2020
POMT11Aug 5, 2020
POR1Nov 29, 2021
PPA21Dec 21, 2021
PPOX1Dec 21, 2021
PPP2R1A1Dec 21, 2021
PPT12Dec 21, 2021
PREPL1Aug 5, 2020
PRF11Jul 14, 2020
PRG43Aug 5, 2020
PRKCG3Dec 21, 2021
PRKN7Dec 21, 2021
PRNP2Dec 21, 2021
PRPF311Dec 21, 2021
PRPF31-AS11Dec 21, 2021
PRPS11Dec 21, 2021
PRRT22Dec 21, 2021
PRSS12Jul 14, 2020
PRUNE12Dec 21, 2021
PTCH11Dec 21, 2021
PTCHD11Dec 21, 2021
PTCHD1-AS1Dec 21, 2021
PTEN10Dec 21, 2021
PTPN114Dec 21, 2021
PURA3Dec 21, 2021
PUS31Aug 5, 2020
PYCR12Aug 5, 2020
PYGM1Dec 21, 2021
RAB27A1Aug 5, 2020
RAB40AL1Dec 21, 2021
RAC11Aug 5, 2020
RAF11Dec 21, 2021
RAI11Dec 21, 2021
RALGAPA11Dec 21, 2021
RAPSN1Nov 29, 2021
RARS21Aug 5, 2020
RASA12Dec 21, 2021
RB11Dec 21, 2021
RELB1Jul 14, 2020
RELN3Dec 21, 2021
RERE1Dec 21, 2021
RIT11Aug 5, 2020
RNASEH2B1Dec 21, 2021
RNF131Dec 21, 2021
ROBO32Aug 5, 2020
RP1L11Dec 21, 2021
RPGRIP11Aug 5, 2020
RPL36A-HNRNPH24Dec 21, 2021
RPS6KA32Dec 21, 2021
RSPH4A2Dec 21, 2021
RUBCN1Dec 21, 2021
RYR13Dec 21, 2021
SAMD91Dec 21, 2021
SATB21Dec 21, 2021
SBDS1Nov 29, 2021
SCAMP43Dec 21, 2021
SCN10A1Dec 21, 2021
SCN1A2Dec 21, 2021
SCN1A-AS11Dec 21, 2021
SCN2A7Dec 21, 2021
SCN5A3Dec 21, 2021
SCN8A1Dec 21, 2021
SCN9A1Dec 21, 2021
SCYL11Aug 5, 2020
SELENON2Dec 21, 2021
SERPINA11Nov 29, 2021
SERPING11Dec 21, 2021
SETBP11Dec 21, 2021
SETD21Dec 21, 2021
SETX1Dec 21, 2021
SGCE1Dec 21, 2021
SGPL11Aug 5, 2020
SHANK22Dec 21, 2021
SHANK35Dec 21, 2021
SHOC21Dec 21, 2021
SI1Jul 14, 2020
SIK11Dec 21, 2021
SLC12A33Dec 21, 2021
SLC12A63Dec 21, 2021
SLC19A11Aug 5, 2020
SLC19A31Jul 14, 2020
SLC20A21Dec 21, 2021
SLC22A51Jul 14, 2020
SLC25A152Jul 14, 2020
SLC25A202Dec 21, 2021
SLC25A421Aug 5, 2020
SLC26A5-AS12Dec 21, 2021
SLC34A31Jul 14, 2020
SLC36A11Dec 21, 2021
SLC37A43Jul 14, 2020
SLC3A12Dec 21, 2021
SLC5A11Jul 14, 2020
SLC6A31Dec 21, 2021
SLC6A81Aug 5, 2020
SLC9A62Dec 21, 2021
SLCO1B31Dec 21, 2021
SLCO1B3-SLCO1B71Dec 21, 2021
SLITRK11Dec 21, 2021
SMAD32Dec 21, 2021
SMARCA21Dec 21, 2021
SMN11Jul 14, 2020
SMPD18Nov 29, 2021
SNCB1Dec 21, 2021
SNX141Dec 21, 2021
SOD11Jul 14, 2020
SON1Dec 21, 2021
SOX111Aug 5, 2020
SOX41Dec 21, 2021
SPAST1Dec 21, 2021
SPATA222Jul 14, 2020
SPG113Aug 5, 2020
SPG73Dec 21, 2021
SPRED11Dec 21, 2021
SPTA13Nov 29, 2021
SPTBN22Dec 21, 2021
SPTLC22Dec 21, 2021
SQSTM11Nov 29, 2021
SRFBP11Aug 5, 2020
STAC31Dec 21, 2021
STAG11Dec 21, 2021
STIM11Dec 21, 2021
STUB12Dec 21, 2021
STXBP11Dec 21, 2021
STXBP21Jul 14, 2020
SYNE13Dec 21, 2021
SYNE21Dec 21, 2021
SYNGAP11Dec 21, 2021
SYT11Dec 21, 2021
TAB21Aug 5, 2020
TAF13Dec 21, 2021
TANGO21Jul 14, 2020
TBCD1Aug 5, 2020
TBCE1Nov 29, 2021
TBCK2Dec 21, 2021
TBK12Dec 21, 2021
TBX41Aug 5, 2020
TCF121Dec 21, 2021
TCF31Dec 21, 2021
TCF43Dec 21, 2021
TGFBR21Dec 21, 2021
TGM61Dec 21, 2021
TJP22Jul 14, 2020
TLK21Dec 21, 2021
TLR31Dec 21, 2021
TMEM2602Aug 5, 2020
TMPRSS152Jul 14, 2020
TNFRSF13B1Dec 21, 2021
TNNI23Dec 21, 2021
TNNT21Jul 14, 2020
TNPO31Dec 21, 2021
TNXB3Dec 21, 2021
TP533Dec 21, 2021
TP631Dec 21, 2021
TPH21Dec 21, 2021
TPM21Dec 21, 2021
TPM31Aug 5, 2020
TRAPPC6B1Aug 5, 2020
TRAPPC92Dec 21, 2021
TRB2Jul 14, 2020
TREX12Dec 21, 2021
TRIM711Dec 21, 2021
TRIO1Dec 21, 2021
TRIP122Dec 21, 2021
TRIP42Dec 15, 2021
TRMT10A1Aug 5, 2020
TRMU1Jul 14, 2020
TRPC61Dec 21, 2021
TRPV42Dec 21, 2021
TRRAP3Dec 21, 2021
TSC11Dec 21, 2021
TSC23Dec 21, 2021
TTBK21Dec 21, 2021
TTN7Dec 21, 2021
TTN-AS12Dec 21, 2021
TTPA1Dec 21, 2021
TUBB1Dec 21, 2021
TUBB4A1Dec 21, 2021
TUBB61Dec 21, 2021
UBTF1Dec 21, 2021
UFM11Aug 5, 2020
UGDH1Aug 5, 2020
UGT1A4Aug 5, 2020
UGT1A14Aug 5, 2020
UGT1A104Aug 5, 2020
UGT1A34Aug 5, 2020
UGT1A44Aug 5, 2020
UGT1A54Aug 5, 2020
UGT1A64Aug 5, 2020
UGT1A74Aug 5, 2020
UGT1A84Aug 5, 2020
UGT1A94Aug 5, 2020
UNC13D1Dec 21, 2021
UNC802Dec 21, 2021
UROD1Nov 29, 2021
USP9X2Dec 21, 2021
VCP1Dec 21, 2021
VPS13A2Dec 21, 2021
VPS13B1Aug 5, 2020
VRK12Dec 21, 2021
VWF2Dec 21, 2021
WAC1Dec 21, 2021
WDPCP1Aug 5, 2020
WDR261Dec 21, 2021
WDR451Dec 21, 2021
WDR622Dec 21, 2021
WFS11Dec 21, 2021
WWOX2Dec 21, 2021
XIAP1Jul 14, 2020
XRCC21Aug 5, 2020
XYLT21Aug 5, 2020
YY11Dec 21, 2021
ZBTB201Dec 21, 2021
ZBTB241Jul 14, 2020
ZC4H21Dec 21, 2021
ZDHHC91Dec 21, 2021
ZEB23Dec 21, 2021
ZIC11Dec 21, 2021
ZMYND111Dec 21, 2021
ZP31Dec 21, 2021

Condition

NameSubmissionsLast Updated
3MC syndrome 12Dec 21, 2021
ABri amyloidosis1Dec 21, 2021
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome1Dec 21, 2021
Aarskog syndrome1Dec 21, 2021
Achondroplasia1Dec 21, 2021
Achromatopsia 21Jul 14, 2020
Achromatopsia 31Aug 5, 2020
Acrofacial dysostosis Cincinnati type1Dec 21, 2021
Actin accumulation myopathy1Dec 21, 2021
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins1Jul 14, 2020
Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome1Aug 5, 2020
Acute intermittent porphyria3Dec 21, 2021
Acyl-CoA dehydrogenase deficiency, glutaric acidemia type II1Jul 14, 2020
Adams-Oliver syndrome 61Aug 5, 2020
Adrenoleukodystrophy1Dec 21, 2021
Agammaglobulinemia 8, autosomal dominant1Dec 21, 2021
Age related macular degeneration 22Dec 21, 2021
Agenesis of the corpus callosum with peripheral neuropathy3Dec 21, 2021
Aicardi-Goutieres syndrome 11Aug 5, 2020
Aicardi-Goutieres syndrome 21Dec 21, 2021
Alagille syndrome due to a JAG1 point mutation1Aug 5, 2020
Aldosterone-producing adenoma with seizures and neurological abnormalities2Dec 21, 2021
Alpha thalassemia-X-linked intellectual disability syndrome2Dec 21, 2021
Alpha-1-antitrypsin deficiency1Nov 29, 2021
Alpha-N-acetylgalactosaminidase deficiency type 11Aug 5, 2020
Alport syndrome type 21Jul 14, 2020
Alternating hemiplegia of childhood 21Dec 21, 2021
Alzheimer disease1Dec 21, 2021
Alzheimer disease 93Dec 21, 2021
Amyotrophic lateral sclerosis type 11Jul 14, 2020
Amyotrophic lateral sclerosis type 111Dec 21, 2021
Amyotrophic lateral sclerosis type 192Dec 21, 2021
Amyotrophic lateral sclerosis type 2, juvenile1Jul 14, 2020
Amyotrophic lateral sclerosis type 41Dec 21, 2021
Anemia, congenital dyserythropoietic, type 1a2Dec 21, 2021
Anemia, nonspherocytic hemolytic, due to G6PD deficiency4Dec 21, 2021
Aneurysm-osteoarthritis syndrome2Dec 21, 2021
Aniridia 11Aug 5, 2020
Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis1Nov 29, 2021
Aortic aneurysm, familial thoracic 101Aug 5, 2020
Arginase deficiency2Dec 21, 2021
Argininosuccinate lyase deficiency1Jul 14, 2020
Arrhythmogenic right ventricular dysplasia 101Jul 14, 2020
Arrhythmogenic right ventricular dysplasia 131Dec 21, 2021
Arrhythmogenic right ventricular dysplasia 81Dec 21, 2021
Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect2Aug 5, 2020
Arthrogryposis, distal, type 1A1Dec 21, 2021
Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome1Aug 5, 2020
Ataxia-telangiectasia syndrome3Dec 21, 2021
Atrial fibrillation, familial, 71Dec 21, 2021
Attention deficit-hyperactivity disorder, susceptibility to, 71Dec 21, 2021
Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly1Dec 21, 2021
Autism, susceptibility to, 172Dec 21, 2021
Autism, susceptibility to, 187Dec 21, 2021
Autism, susceptibility to, X-linked 41Dec 21, 2021
Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation1Dec 21, 2021
Autosomal dominant Alport syndrome7Feb 22, 2022
Autosomal dominant Charcot-Marie-Tooth disease type 2W1Dec 21, 2021
Autosomal dominant Parkinson disease 81Dec 21, 2021
Autosomal dominant Robinow syndrome 31Dec 21, 2021
Autosomal dominant centronuclear myopathy1Aug 5, 2020
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)1Dec 21, 2021
Autosomal dominant limb-girdle muscular dystrophy type 1F1Dec 21, 2021
Autosomal dominant nocturnal frontal lobe epilepsy 11Dec 21, 2021
Autosomal dominant nocturnal frontal lobe epilepsy 31Dec 21, 2021
Autosomal dominant nonsyndromic hearing loss 411Dec 21, 2021
Autosomal recessive Alport syndrome9Feb 22, 2022
Autosomal recessive agammaglobulinemia 11Jul 14, 2020
Autosomal recessive ataxia due to ubiquinone deficiency1Dec 21, 2021
Autosomal recessive ataxia, Beauce type2Dec 21, 2021
Autosomal recessive cutis laxa type 2B2Aug 5, 2020
Autosomal recessive distal renal tubular acidosis2Jul 14, 2020
Autosomal recessive early-onset Parkinson disease 62Dec 21, 2021
Autosomal recessive hypophosphatemic bone disease1Jul 14, 2020
Autosomal recessive juvenile Parkinson disease 27Dec 21, 2021
Autosomal recessive limb-girdle muscular dystrophy type 2B1Aug 5, 2020
Autosomal recessive limb-girdle muscular dystrophy type 2Q2Dec 21, 2021
Autosomal recessive multiple pterygium syndrome1Nov 29, 2021
Autosomal recessive nonsyndromic hearing loss 1A1Dec 21, 2021
Autosomal recessive spastic paraplegia type 761Aug 5, 2020
Autosomal recessive spastic paraplegia type 781Dec 21, 2021
Autosomal recessive spinocerebellar ataxia 151Dec 21, 2021
Autosomal recessive spinocerebellar ataxia 201Dec 21, 2021
Bailey-Bloch congenital myopathy1Dec 21, 2021
Baraitser-Winter syndrome 13Dec 21, 2021
Baraitser-winter syndrome 23Dec 21, 2021
Bardet-Biedl syndrome 151Aug 5, 2020
Basal ganglia calcification, idiopathic, 41Dec 21, 2021
Benign familial hematuria3Feb 22, 2022
Beta-hydroxyisobutyryl-CoA deacylase deficiency1Dec 21, 2021
Bethlem myopathy 13Dec 21, 2021
Bethlem myopathy 22Dec 21, 2021
Biotin-responsive basal ganglia disease1Jul 14, 2020
Biotinidase deficiency4Dec 21, 2021
Blau syndrome1Dec 21, 2021
Blepharophimosis - intellectual disability syndrome, MKB type1Dec 21, 2021
Blepharophimosis - intellectual disability syndrome, SBBYS type1Dec 21, 2021
Bloom syndrome1Aug 5, 2020
Brachydactyly type A21Dec 21, 2021
Brain small vessel disease 1 with or without ocular anomalies3Dec 21, 2021
Breast-ovarian cancer, familial, susceptibility to, 11Jul 14, 2020
Breast-ovarian cancer, familial, susceptibility to, 21Dec 21, 2021
Brugada syndrome 12Dec 21, 2021
Brunner syndrome1Dec 21, 2021
C1Q deficiency1Aug 5, 2020
CFHR5 deficiency1Dec 21, 2021
CHARGE association1Dec 21, 2021
COG6-CGD1Aug 5, 2020
Camptodactyly-arthropathy-coxa vara-pericarditis syndrome3Aug 5, 2020
Capillary malformation-arteriovenous malformation 12Dec 21, 2021
Cardiac anomalies - developmental delay - facial dysmorphism syndrome3Dec 21, 2021
Cardiac arrhythmia, ankyrin-B-related1Dec 21, 2021
Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies1Dec 21, 2021
Carnitine acylcarnitine translocase deficiency2Dec 21, 2021
Carnitine palmitoyl transferase II deficiency, severe infantile form1Dec 21, 2021
Central core myopathy1Dec 21, 2021
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome2Dec 21, 2021
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 11Dec 21, 2021
Cerebral cavernous malformation 21Aug 5, 2020
Cerebral palsy, spastic quadriplegic, 31Dec 21, 2021
Cerebroretinal microangiopathy with calcifications and cysts 12Dec 21, 2021
Ceroid lipofuscinosis, neuronal, 6A1Jul 14, 2020
Charcot-Marie-Tooth disease axonal type 2C1Nov 29, 2021
Charcot-Marie-Tooth disease axonal type 2CC1Dec 21, 2021
Charcot-Marie-Tooth disease axonal type 2N1Dec 21, 2021
Charcot-Marie-Tooth disease axonal type 2S1Dec 21, 2021
Charcot-Marie-Tooth disease axonal type 2Z2Dec 21, 2021
Charcot-Marie-Tooth disease type 2I1Dec 21, 2021
Charcot-Marie-Tooth disease, axonal, Type 2HH1Dec 21, 2021
Charcot-Marie-Tooth disease, demyelinating, type 1G1Dec 21, 2021
Childhood apraxia of speech1Dec 21, 2021
Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder1Dec 21, 2021
Cholestanol storage disease1Jul 14, 2020
Cholestasis, progressive familial intrahepatic, 42Jul 14, 2020
Chondrocalcinosis 21Aug 5, 2020
Chorea-acanthocytosis2Dec 21, 2021
Choroidal dystrophy, central areolar, 11Dec 21, 2021
Christianson syndrome2Dec 21, 2021
Chromosome 22q11.2 deletion syndrome, distal1Jul 14, 2020
Chromosome 2P16.3 deletion syndrome1Dec 21, 2021
Chromosome 2q32-q33 deletion syndrome1Dec 21, 2021
Citrullinemia type I1Aug 5, 2020
Clark-Baraitser syndrome2Dec 21, 2021
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency1Jul 14, 2020
Cockayne syndrome type 21Aug 5, 2020
Coffin-Siris syndrome 13Dec 21, 2021
Coffin-Siris syndrome 101Dec 21, 2021
Coffin-Siris syndrome 61Dec 21, 2021
Cohen syndrome1Aug 5, 2020
Colobomatous microphthalmia-rhizomelic dysplasia syndrome1Aug 5, 2020
Colorectal cancer1Dec 21, 2021
Colorectal cancer, hereditary nonpolyposis, type 21Jul 14, 2020
Colorectal cancer, hereditary nonpolyposis, type 41Dec 21, 2021
Colorectal cancer, hereditary nonpolyposis, type 51Dec 21, 2021
Combined immunodeficiency due to LRBA deficiency2Dec 21, 2021
Combined oxidative phosphorylation deficiency 221Dec 21, 2021
Complement component 6 deficiency1Aug 5, 2020
Complex cortical dysplasia with other brain malformations 61Dec 21, 2021
Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay1Aug 5, 2020
Congenital contractures of the limbs and face, hypotonia, and developmental delay1Jul 14, 2020
Congenital diarrhea 5 with tufting enteropathy2Jul 14, 2020
Congenital disorder of glycosylation with defective fucosylation 21Dec 21, 2021
Congenital glucose-galactose malabsorption1Jul 14, 2020
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder2Dec 21, 2021
Congenital heart defects, multiple types, 21Aug 5, 2020
Congenital multicore myopathy with external ophthalmoplegia2Dec 21, 2021
Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome1Dec 15, 2021
Congenital myasthenic syndrome 111Nov 29, 2021
Congenital myasthenic syndrome 172Dec 21, 2021
Congenital myasthenic syndrome 2A1Dec 21, 2021
Congenital myasthenic syndrome 4B1Jul 14, 2020
Congenital myasthenic syndrome 51Dec 21, 2021
Congenital myopathy with fiber type disproportion1Dec 21, 2021
Congenital sucrose-isomaltase deficiency1Jul 14, 2020
Cornelia de Lange syndrome 52Dec 21, 2021
Cortical dysplasia-focal epilepsy syndrome2Aug 5, 2020
Costello syndrome1Dec 21, 2021
Cowden syndrome 19Dec 21, 2021
Coxopodopatellar syndrome1Aug 5, 2020
Craniosynostosis 61Dec 21, 2021
Creatine transporter deficiency1Aug 5, 2020
Crigler-Najjar syndrome type 12Jul 14, 2020
Cryptosporidiosis-chronic cholangitis-liver disease syndrome1Jul 14, 2020
Cystic fibrosis5Dec 21, 2021
Cystinosis1Jul 14, 2020
Cystinuria2Dec 21, 2021
DYRK1A-related intellectual disability syndrome1Aug 5, 2020
Deafness-intellectual disability, Martin-Probst type syndrome1Dec 21, 2021
Deficiency of alpha-mannosidase2Aug 5, 2020
Deficiency of aromatic-L-amino-acid decarboxylase1Jul 14, 2020
Dehydrated hereditary stomatocytosis 21Dec 21, 2021
Desbuquois dysplasia 11Aug 5, 2020
Developmental and epileptic encephalopathy, 12Dec 21, 2021
Developmental and epileptic encephalopathy, 117Dec 21, 2021
Developmental and epileptic encephalopathy, 131Dec 21, 2021
Developmental and epileptic encephalopathy, 171Dec 21, 2021
Developmental and epileptic encephalopathy, 193Dec 21, 2021
Developmental and epileptic encephalopathy, 271Dec 21, 2021
Developmental and epileptic encephalopathy, 282Dec 21, 2021
Developmental and epileptic encephalopathy, 301Dec 21, 2021
Developmental and epileptic encephalopathy, 311Dec 21, 2021
Developmental and epileptic encephalopathy, 351Jul 14, 2020
Developmental and epileptic encephalopathy, 371Aug 5, 2020
Developmental and epileptic encephalopathy, 41Dec 21, 2021
Developmental and epileptic encephalopathy, 424Dec 21, 2021
Developmental and epileptic encephalopathy, 463Dec 21, 2021
Developmental and epileptic encephalopathy, 541Dec 21, 2021
Developmental and epileptic encephalopathy, 591Aug 5, 2020
Developmental and epileptic encephalopathy, 74Dec 21, 2021
Developmental and epileptic encephalopathy, 731Dec 21, 2021
Developmental and epileptic encephalopathy, 751Aug 5, 2020
Developmental and epileptic encephalopathy, 81Aug 5, 2020
Developmental and epileptic encephalopathy, 841Aug 5, 2020
Developmental delay with autism spectrum disorder and gait instability2Dec 21, 2021
Developmental delay with or without dysmorphic facies and autism3Dec 21, 2021
Dihydropyrimidine dehydrogenase deficiency2Nov 29, 2021
Dilated cardiomyopathy 1C1Dec 21, 2021
Dilated cardiomyopathy 1D1Jul 14, 2020
Dilated cardiomyopathy 1E1Dec 21, 2021
Dilated cardiomyopathy 1G1Dec 21, 2021
Distal arthrogryposis type 2B13Dec 21, 2021
Distal arthrogryposis type 5D2Dec 21, 2021
Distal trisomy 11q1Jul 14, 2020
Duchenne muscular dystrophy2Aug 5, 2020
Dyskinesia with orofacial involvement, autosomal dominant1Dec 21, 2021
Dystonia 121Dec 21, 2021
Dystonia 241Dec 21, 2021
Dystonia 28, childhood-onset2Dec 21, 2021
Dystonia 52Dec 21, 2021
Early-onset myopathy with fatal cardiomyopathy1Dec 21, 2021
Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome1Aug 5, 2020
Ectodermal dysplasia and immunodeficiency 21Dec 21, 2021
Ehlers-Danlos syndrome due to tenascin-X deficiency2Dec 21, 2021
Ehlers-Danlos syndrome, classic type, 14Dec 21, 2021
Ehlers-Danlos syndrome, periodontal type 11Jul 14, 2020
Ehlers-danlos syndrome, arthrochalasia type, 21Dec 21, 2021
Eichsfeld type congenital muscular dystrophy1Aug 5, 2020
Elliptocytosis 21Nov 29, 2021
Ellis-van Creveld syndrome1Dec 21, 2021
Emery-Dreifuss muscular dystrophy 4, autosomal dominant1Dec 21, 2021
Emery-Dreifuss muscular dystrophy 5, autosomal dominant1Dec 21, 2021
Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 81Dec 21, 2021
Endometrial carcinoma3Dec 21, 2021
Enterokinase deficiency2Jul 14, 2020
Epilepsy, childhood absence, susceptibility to, 61Dec 21, 2021
Epilepsy, familial adult myoclonic, 52Dec 21, 2021
Epilepsy, familial focal, with variable foci 12Dec 21, 2021
Episodic pain syndrome, familial, 21Dec 21, 2021
Ethylmalonic encephalopathy2Aug 5, 2020
Fabry disease4Dec 21, 2021
Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation1Dec 21, 2021
Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome2Dec 21, 2021
Familial Mediterranean fever2Dec 21, 2021
Familial X-linked hypophosphatemic vitamin D refractory rickets1Dec 21, 2021
Familial adenomatous polyposis 11Aug 5, 2020
Familial apolipoprotein C-II deficiency1Dec 21, 2021
Familial cancer of breast2Dec 21, 2021
Familial cold autoinflammatory syndrome 21Dec 21, 2021
Familial cold autoinflammatory syndrome 31Dec 21, 2021
Familial hemophagocytic lymphohistiocytosis 21Jul 14, 2020
Familial hemophagocytic lymphohistiocytosis 31Dec 21, 2021
Familial hemophagocytic lymphohistiocytosis 51Jul 14, 2020
Familial hypokalemia-hypomagnesemia3Dec 21, 2021
Familial intrahepatic cholestasis type 12Jul 14, 2020
Familial intrahepatic cholestasis type 25Jul 14, 2020
Familial intrahepatic cholestasis type 32Jul 14, 2020
Familial isolated deficiency of vitamin E1Dec 21, 2021
Familial porphyria cutanea tarda1Nov 29, 2021
Familial temporal lobe epilepsy 51Dec 21, 2021
Familial temporal lobe epilepsy 73Dec 21, 2021
Fanconi anemia complementation group A1Dec 21, 2021
Fanconi anemia complementation group F1Dec 21, 2021
Fanconi anemia complementation group U1Aug 5, 2020
Fatal familial insomnia1Nov 29, 2021
Febrile seizures, familial, 41Dec 21, 2021
Finnish congenital nephrotic syndrome1Aug 5, 2020
Focal segmental glomerulosclerosis 21Dec 21, 2021
Frontotemporal dementia1Dec 21, 2021
Frontotemporal dementia and/or amyotrophic lateral sclerosis 31Nov 29, 2021
Frontotemporal dementia and/or amyotrophic lateral sclerosis 41Dec 21, 2021
Frontotemporal dementia and/or amyotrophic lateral sclerosis 72Dec 21, 2021
Fructose-biphosphatase deficiency3Jul 14, 2020
Fucosidosis1Jul 14, 2020
G6PD deficient hemolytic anemia2Jul 14, 2020
GM1 gangliosidosis3Jul 14, 2020
GNE myopathy1Dec 21, 2021
Gabriele de Vries syndrome1Dec 21, 2021
Galactosemia2Jul 14, 2020
Galactosylceramide beta-galactosidase deficiency1Aug 5, 2020
Gaucher disease1Jul 14, 2020
Gaucher disease type I5Dec 21, 2021
Gaze palsy, familial horizontal, with progressive scoliosis 12Aug 5, 2020
Generalized dominant dystrophic epidermolysis bullosa1Aug 5, 2020
Generalized epilepsy with febrile seizures plus, type 21Dec 21, 2021
Generalized juvenile polyposis/juvenile polyposis coli1Jul 14, 2020
Genitopatellar syndrome1Dec 21, 2021
Gerstmann-Straussler-Scheinker syndrome1Dec 21, 2021
Gilbert syndrome2Aug 5, 2020
Gillespie syndrome1Dec 21, 2021
Glaucoma 3A1Aug 5, 2020
Global developmental delay with or without impaired intellectual development1Dec 21, 2021
Glucocorticoid resistance2Dec 21, 2021
Glucose-6-phosphate transport defect3Jul 14, 2020
Glutaric aciduria, type 11Dec 21, 2021
Glycogen storage disease IXd1Dec 21, 2021
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA2Jul 14, 2020
Glycogen storage disease due to muscle beta-enolase deficiency2Dec 21, 2021
Glycogen storage disease type III6Jul 14, 2020
Glycogen storage disease type IXc2Jul 14, 2020
Glycogen storage disease, type II3Dec 21, 2021
Glycogen storage disease, type V1Dec 21, 2021
Gnb5-related intellectual disability-cardiac arrhythmia syndrome1Jul 14, 2020
Goldberg-Shprintzen megacolon syndrome1Aug 5, 2020
Gorlin syndrome1Dec 21, 2021
Griscelli syndrome type 11Dec 21, 2021
Griscelli syndrome type 21Aug 5, 2020
HELIX syndrome1Aug 5, 2020
Harel-Yoon syndrome1Dec 21, 2021
Hartsfield-Bixler-Demyer syndrome2Dec 21, 2021
Hb SS disease1Nov 29, 2021
Hearing loss, autosomal dominant 34, with or without inflammation1Dec 21, 2021
Heimler syndrome 21Dec 21, 2021
Hemochromatosis type 12Nov 29, 2021
Hereditary angioedema type 11Dec 21, 2021
Hereditary coproporphyria1Dec 21, 2021
Hereditary fructosuria2Aug 5, 2020
Hereditary pancreatitis3Jul 14, 2020
Hereditary sensory and autonomic neuropathy type 62Dec 21, 2021
Hereditary sensory neuropathy-deafness-dementia syndrome1Dec 21, 2021
Hereditary spastic paraplegia 102Dec 21, 2021
Hereditary spastic paraplegia 113Aug 5, 2020
Hereditary spastic paraplegia 302Dec 21, 2021
Hereditary spastic paraplegia 351Jul 14, 2020
Hereditary spastic paraplegia 3A2Dec 21, 2021
Hereditary spastic paraplegia 41Dec 21, 2021
Hereditary spastic paraplegia 481Aug 5, 2020
Hereditary spastic paraplegia 561Aug 5, 2020
Hereditary spastic paraplegia 73Dec 21, 2021
Hereditary spastic paraplegia 731Dec 21, 2021
Hereditary spastic paraplegia 9A1Dec 21, 2021
Hereditary spherocytosis type 11Jul 14, 2020
Hereditary spherocytosis type 32Nov 29, 2021
Herpes simplex encephalitis, susceptibility to, 21Dec 21, 2021
Heterotaxy, visceral, 8, autosomal2Dec 21, 2021
Heterotopia, periventricular, X-linked dominant1Dec 21, 2021
Homocystinuria1Jul 14, 2020
Homocystinuria due to methylene tetrahydrofolate reductase deficiency1Nov 29, 2021
Hyaline fibromatosis syndrome1Aug 5, 2020
Hydrocephalus, congenital communicating, 11Dec 21, 2021
Hydrocephalus, nonsyndromic, autosomal recessive 21Aug 5, 2020
Hyperaldosteronism, familial, type IV1Dec 21, 2021
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency1Jul 14, 2020
Hypercalcemia, infantile, 11Dec 21, 2021
Hypercholesterolemia, familial, 13Dec 21, 2021
Hyperinsulinemic hypoglycemia, familial, 11Jul 14, 2020
Hyperlipoproteinemia, type I4Jul 14, 2020
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome2Jul 14, 2020
Hyperphosphatasia with intellectual disability syndrome 22Dec 21, 2021
Hyperphosphatasia with intellectual disability syndrome 42Nov 29, 2021
Hypertrichotic osteochondrodysplasia Cantu type1Jul 14, 2020
Hypertrophic cardiomyopathy 11Dec 21, 2021
Hypertrophic cardiomyopathy 101Dec 21, 2021
Hypertrophic cardiomyopathy 141Dec 21, 2021
Hypertrophic cardiomyopathy 44Dec 21, 2021
Hypertrophic cardiomyopathy 92Dec 21, 2021
Hypochondroplasia1Dec 21, 2021
Hypogonadotropic hypogonadism 2 with or without anosmia1Dec 21, 2021
Hypokalemic periodic paralysis, type 12Dec 21, 2021
Hypomyelinating leukodystrophy 61Dec 21, 2021
Hypoparathyroidism-retardation-dysmorphism syndrome1Nov 29, 2021
Hypotonia, infantile, with psychomotor retardation and characteristic facies 22Dec 21, 2021
Hypotonia, infantile, with psychomotor retardation and characteristic facies 32Dec 21, 2021
INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WILSON-TURNER TYPE1Dec 21, 2021
Ichthyosis vulgaris2Nov 29, 2021
Idiopathic basal ganglia calcification 11Dec 21, 2021
Immunodeficiency 491Dec 21, 2021
Immunodeficiency 531Jul 14, 2020
Immunodeficiency, common variable, 102Dec 21, 2021
Immunodeficiency, common variable, 141Dec 21, 2021
Immunodeficiency, common variable, 21Dec 21, 2021
Immunodeficiency-centromeric instability-facial anomalies syndrome 21Jul 14, 2020
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 11Dec 21, 2021
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly3Dec 21, 2021
Infantile convulsions and choreoathetosis1Dec 21, 2021
Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome1Dec 21, 2021
Infantile neuroaxonal dystrophy2Dec 21, 2021
Intellectual developmental disorder 611Dec 21, 2021
Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities2Dec 21, 2021
Intellectual developmental disorder with dysmorphic facies and ptosis1Dec 21, 2021
Intellectual developmental disorder with macrocephaly, seizures, and speech delay2Dec 21, 2021
Intellectual disability, X-linked 11Dec 21, 2021
Intellectual disability, X-linked 1041Dec 21, 2021
Intellectual disability, X-linked 1061Dec 21, 2021
Intellectual disability, X-linked 192Dec 21, 2021
Intellectual disability, X-linked 211Dec 21, 2021
Intellectual disability, X-linked 91Dec 21, 2021
Intellectual disability, X-linked 931Dec 21, 2021
Intellectual disability, X-linked 992Dec 21, 2021
Intellectual disability, X-linked syndromic, Turner type3Dec 21, 2021
Intellectual disability, X-linked, syndromic 333Dec 21, 2021
Intellectual disability, X-linked, syndromic, Bain type1Dec 21, 2021
Intellectual disability, autosomal dominant 13Dec 21, 2021
Intellectual disability, autosomal dominant 201Dec 21, 2021
Intellectual disability, autosomal dominant 241Dec 21, 2021
Intellectual disability, autosomal dominant 271Aug 5, 2020
Intellectual disability, autosomal dominant 291Dec 21, 2021
Intellectual disability, autosomal dominant 301Dec 21, 2021
Intellectual disability, autosomal dominant 391Dec 21, 2021
Intellectual disability, autosomal dominant 432Dec 21, 2021
Intellectual disability, autosomal dominant 452Dec 21, 2021
Intellectual disability, autosomal dominant 471Dec 21, 2021
Intellectual disability, autosomal dominant 481Aug 5, 2020
Intellectual disability, autosomal dominant 51Dec 21, 2021
Intellectual disability, autosomal dominant 511Dec 21, 2021
Intellectual disability, autosomal dominant 541Dec 21, 2021
Intellectual disability, autosomal dominant 55, with seizures1Dec 21, 2021
Intellectual disability, autosomal dominant 563Dec 21, 2021
Intellectual disability, autosomal dominant 571Dec 21, 2021
Intellectual disability, autosomal dominant 61Dec 21, 2021
Intellectual disability, autosomal dominant 81Dec 21, 2021
Intellectual disability, autosomal dominant 92Aug 5, 2020
Intellectual disability, autosomal recessive 132Dec 21, 2021
Intellectual disability, autosomal recessive 32Dec 21, 2021
Intellectual disability, autosomal recessive 422Dec 21, 2021
Intellectual disability, autosomal recessive 441Aug 5, 2020
Intellectual disability, autosomal recessive 51Aug 5, 2020
Intellectual disability-cataracts-calcified pinnae-myopathy syndrome1Dec 21, 2021
Intellectual disability-epilepsy-extrapyramidal syndrome1Aug 5, 2020
Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome1Dec 21, 2021
Intellectual disability-hypotonic facies syndrome, X-linked, 11Dec 21, 2021
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome2Dec 21, 2021
Intellectual disability-severe speech delay-mild dysmorphism syndrome3Dec 21, 2021
Intellectual disability-strabismus syndrome3Dec 21, 2021
Isolated neonatal sclerosing cholangitis1Jul 14, 2020
Isovaleryl-CoA dehydrogenase deficiency1Jul 14, 2020
Jaberi-Elahi syndrome2Aug 5, 2020
Joubert syndrome 232Dec 21, 2021
Joubert syndrome with renal defect1Jul 14, 2020
Junctional epidermolysis bullosa1Jul 14, 2020
Junctional epidermolysis bullosa gravis of Herlitz2Dec 21, 2021
KBG syndrome4Dec 21, 2021
Kabuki syndrome 15Dec 21, 2021
Kabuki syndrome 21Dec 21, 2021
Kleefstra syndrome 11Aug 5, 2020
Kleefstra syndrome 21Dec 21, 2021
Knobloch syndrome1Aug 5, 2020
L-2-hydroxyglutaric aciduria2Dec 21, 2021
Landau-Kleffner syndrome2Dec 21, 2021
Leber congenital amaurosis 101Dec 21, 2021
Leber congenital amaurosis 61Aug 5, 2020
Left ventricular noncompaction 71Dec 21, 2021
Legius syndrome1Dec 21, 2021
Lethal congenital contracture syndrome 111Aug 5, 2020
Leukodystrophy, hypomyelinating, 141Aug 5, 2020
Leukoencephalopathy, progressive, with ovarian failure1Dec 21, 2021
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome1Aug 5, 2020
Lewy body dementia1Dec 21, 2021
Li-Fraumeni syndrome 13Dec 21, 2021
Li-Fraumeni syndrome 21Aug 5, 2020
Lipoprotein glomerulopathy1Dec 21, 2021
Lissencephaly 9 with complex brainstem malformation1Dec 21, 2021
Loeys-Dietz syndrome 21Dec 21, 2021
Long QT syndrome 31Jul 14, 2020
Low phospholipid associated cholelithiasis1Dec 21, 2021
Luscan-Lumish syndrome1Dec 21, 2021
Lymphoproliferative syndrome 21Jul 14, 2020
Lysosomal acid lipase deficiency1Dec 21, 2021
MASA syndrome1Nov 29, 2021
MIRAGE syndrome1Dec 21, 2021
MOGS-CDG1Aug 5, 2020
MYH7-related skeletal myopathy1Aug 5, 2020
Macrocephaly, acquired, with impaired intellectual development1Dec 21, 2021
Macrocephaly-autism syndrome1Aug 5, 2020
Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome2Dec 21, 2021
Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome1Jul 14, 2020
Maple syrup urine disease type 21Jul 14, 2020
Marfan syndrome1Jul 14, 2020
Marshall-Smith syndrome1Dec 21, 2021
Maturity-onset diabetes of the young type 111Dec 21, 2021
Maturity-onset diabetes of the young type 21Dec 21, 2021
Megalencephaly-capillary malformation-polymicrogyria syndrome2Dec 21, 2021
Meier-Gorlin syndrome 61Dec 21, 2021
Meier-Gorlin syndrome 71Dec 21, 2021
Menkes kinky-hair syndrome1Dec 21, 2021
Merosin deficient congenital muscular dystrophy1Aug 5, 2020
Metabolic crises with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration1Jul 14, 2020
Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression1Aug 5, 2020
Metachromatic leukodystrophy1Aug 5, 2020
Metaphyseal chondrodysplasia, Schmid type1Dec 21, 2021
Methylmalonic acidemia with homocystinuria, type cblJ1Dec 21, 2021
Methylmalonic aciduria of the cblA complementation type1Jul 14, 2020
Microcephalic primordial dwarfism, Alazami type1Aug 5, 2020
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations1Dec 21, 2021
Microcephaly, short stature, and impaired glucose metabolism 11Aug 5, 2020
Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome1Dec 21, 2021
Microform holoprosencephaly2Dec 21, 2021
Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome1Dec 21, 2021
Migraine, familial hemiplegic, 21Dec 21, 2021
Mitochondrial DNA deletion syndrome with progressive myopathy2Dec 21, 2021
Mitochondrial complex 1 deficiency, nuclear type 41Jul 14, 2020
Mitochondrial complex 1 deficiency, nuclear type 91Dec 21, 2021
Mitochondrial complex I deficiency, nuclear type 11Aug 5, 2020
Mowat-Wilson syndrome3Dec 21, 2021
Moyamoya disease 51Aug 5, 2020
Mucolipidosis type II2Aug 5, 2020
Mucolipidosis type IV1Aug 5, 2020
Mucopolysaccharidosis type 11Jul 14, 2020
Mucopolysaccharidosis type 61Aug 5, 2020
Mucopolysaccharidosis, MPS-IV-A6Dec 21, 2021
Mucopolysaccharidosistype IIIB3Jul 14, 2020
Muir-Torré syndrome1Dec 21, 2021
Multiple congenital anomalies-hypotonia-seizures syndrome 14Dec 21, 2021
Multiple epiphyseal dysplasia type 12Dec 21, 2021
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A11Aug 5, 2020
Myasthenic syndrome, congenital, 221Aug 5, 2020
Myoclonic dystonia 111Dec 21, 2021
Myofibrillar myopathy 31Dec 21, 2021
Myofibrillar myopathy 52Dec 21, 2021
Myopathy, myofibrillar, 9, with early respiratory failure2Dec 21, 2021
Myopathy, tubular aggregate, 11Dec 21, 2021
Nail-patella syndrome1Dec 21, 2021
Navajo neurohepatopathy1Jul 14, 2020
Nemaline myopathy 11Aug 5, 2020
Nemaline myopathy 21Dec 21, 2021
Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome3Dec 21, 2021
Nephrotic syndrome 141Aug 5, 2020
Neurodegeneration with brain iron accumulation 2B2Aug 5, 2020
Neurodegeneration with brain iron accumulation 51Dec 21, 2021
Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies1Dec 21, 2021
Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation1Dec 21, 2021
Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy1Aug 5, 2020
Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies2Dec 21, 2021
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart1Dec 21, 2021
Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA1Dec 21, 2021
Neurofibromatosis, type 13Dec 21, 2021
Neuronal ceroid lipofuscinosis 12Dec 21, 2021
Neuropathy, hereditary sensory and autonomic, type 1C2Dec 21, 2021
Nicolaides-Baraitser syndrome1Dec 21, 2021
Niemann-Pick disease, type A5Jul 14, 2020
Niemann-Pick disease, type B8Nov 29, 2021
Niemann-Pick disease, type C178Sep 16, 2022
Nizon-Isidor syndrome1Dec 21, 2021
Non-ketotic hyperglycinemia1Dec 21, 2021
Nonprogressive cerebellar atxia with intellectual disability1Dec 21, 2021
Noonan syndrome 14Dec 21, 2021
Noonan syndrome 101Dec 21, 2021
Noonan syndrome 51Dec 21, 2021
Noonan syndrome 81Aug 5, 2020
Noonan syndrome-like disorder with loose anagen hair 11Dec 21, 2021
Occult macular dystrophy1Dec 21, 2021
Ocular albinism, type II1Dec 21, 2021
Oculofaciocardiodental syndrome2Dec 21, 2021
Odontohypophosphatasia1Jul 14, 2020
Oocyte maturation defect 31Dec 21, 2021
Orofaciodigital syndrome 181Aug 5, 2020
Osteogenesis imperfecta type I2Dec 21, 2021
Osteogenesis imperfecta, recessive perinatal lethal1Aug 5, 2020
Osteoglophonic dysplasia1Dec 21, 2021
Otospondylomegaepiphyseal dysplasia, autosomal dominant1Dec 21, 2021
PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome1Dec 21, 2021
PMM2-CDG3Dec 21, 2021
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome3Dec 21, 2021
Paganini-Miozzo syndrome1Dec 21, 2021
Parkinson disease, late-onset1Dec 21, 2021
Parkinsonian-pyramidal syndrome1Dec 21, 2021
Parkinsonism-dystonia, infantile, 11Dec 21, 2021
Partial albinism1Dec 21, 2021
Periventricular nodular heterotopia 61Dec 21, 2021
Periventricular nodular heterotopia 71Dec 21, 2021
Periventricular nodular heterotopia 91Dec 21, 2021
Peroxisome biogenesis disorder 4A (Zellweger)2Dec 21, 2021
Peroxisome biogenesis disorder 5A (Zellweger)1Aug 5, 2020
Peroxisome biogenesis disorder type 1A2Jul 14, 2020
Phelan-McDermid syndrome5Dec 21, 2021
Phenylketonuria6Dec 21, 2021
Pheochromocytoma1Dec 21, 2021
Phosphoribosylpyrophosphate synthetase superactivity1Dec 21, 2021
Pierson syndrome1Aug 5, 2020
Pigmentary pallidal degeneration1Jul 14, 2020
Pigmented nodular adrenocortical disease, primary, 24Dec 21, 2021
Pitt-Hopkins syndrome3Dec 21, 2021
Platelet-type bleeding disorder 101Jul 14, 2020
Polyarteritis nodosa1Jul 14, 2020
Polycystic kidney disease 21Dec 21, 2021
Polycystic kidney disease, adult type1Dec 21, 2021
Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis1Dec 21, 2021
Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal1Dec 21, 2021
Pontocerebellar hypoplasia type 1A2Dec 21, 2021
Pontocerebellar hypoplasia type 32Dec 21, 2021
Pontocerebellar hypoplasia type 61Aug 5, 2020
Porencephaly 21Dec 21, 2021
Porencephaly-microcephaly-bilateral congenital cataract syndrome1Aug 5, 2020
Primary ciliary dyskinesia 112Dec 21, 2021
Primary ciliary dyskinesia 71Aug 5, 2020
Primary erythromelalgia1Dec 21, 2021
Primary hyperoxaluria, type I1Jul 14, 2020
Primary hypomagnesemia1Aug 5, 2020
Primary microcephaly type 21Jul 14, 2020
Progeroid and marfanoid aspect-lipodystrophy syndrome1Dec 21, 2021
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 11Dec 21, 2021
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 41Dec 21, 2021
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 12Dec 21, 2021
Progressive familial intrahepatic cholestasis type 21Aug 5, 2020
Progressive myoclonic epilepsy type 71Dec 21, 2021
Progressive sclerosing poliodystrophy1Dec 21, 2021
Propionic acidemia2Dec 21, 2021
Pseudohypoaldosteronism type 2E1Aug 5, 2020
Pseudoxanthoma elasticum, forme fruste2Dec 21, 2021
Purine-nucleoside phosphorylase deficiency1Dec 21, 2021
Pyruvate dehydrogenase E3 deficiency1Jul 14, 2020
Rapp-Hodgkin ectodermal dysplasia syndrome1Dec 21, 2021
Renal carnitine transport defect1Jul 14, 2020
Renal hypodysplasia/aplasia 31Dec 21, 2021
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations1Dec 21, 2021
Retinitis pigmentosa 111Dec 21, 2021
Retinoblastoma1Dec 21, 2021
Rett syndrome3Dec 21, 2021
Rett syndrome, congenital variant1Aug 5, 2020
Rhizomelic chondrodysplasia punctata type 31Dec 21, 2021
Rotor syndrome1Dec 21, 2021
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency5Dec 21, 2021
Saldino-Mainzer syndrome2Aug 5, 2020
Sandhoff disease3Aug 5, 2020
Schaaf-Yang syndrome1Aug 5, 2020
Schuurs-Hoeijmakers syndrome1Dec 21, 2021
Schwannomatosis 21Dec 21, 2021
Seizures, benign familial infantile, 21Aug 5, 2020
Seizures, benign familial neonatal, 21Dec 21, 2021
Seizures-scoliosis-macrocephaly syndrome2Dec 21, 2021
Severe combined immunodeficiency due to CORO1A deficiency2Jul 14, 2020
Severe early-childhood-onset retinal dystrophy2Dec 21, 2021
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome2Dec 21, 2021
Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome1Aug 5, 2020
Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome1Dec 21, 2021
Severe intellectual disability-progressive spastic diplegia syndrome1Dec 21, 2021
Severe myoclonic epilepsy in infancy1Nov 29, 2021
Short stature-optic atrophy-Pelger-HuC+t anomaly syndrome2Dec 21, 2021
Shukla-Vernon syndrome1Dec 21, 2021
Shwachman-Diamond syndrome 11Nov 29, 2021
Sifrim-Hitz-Weiss syndrome1Dec 21, 2021
Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome1Dec 21, 2021
Skraban-Deardorff syndrome1Dec 21, 2021
Smith-Magenis syndrome1Dec 21, 2021
Snijders Blok-Campeau syndrome1Dec 21, 2021
Sotos syndrome 12Dec 21, 2021
Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy3Aug 5, 2020
Spastic paraplegia, intellectual disability, nystagmus, and obesity;1Dec 21, 2021
Spinal muscular atrophy with congenital bone fractures 11Dec 15, 2021
Spinal muscular atrophy with congenital bone fractures 22Dec 21, 2021
Spinocerebellar ataxia 451Dec 21, 2021
Spinocerebellar ataxia 482Dec 21, 2021
Spinocerebellar ataxia type 111Dec 21, 2021
Spinocerebellar ataxia type 143Dec 21, 2021
Spinocerebellar ataxia type 19/221Dec 21, 2021
Spinocerebellar ataxia type 261Dec 21, 2021
Spinocerebellar ataxia type 284Dec 21, 2021
Spinocerebellar ataxia type 341Dec 21, 2021
Spinocerebellar ataxia type 351Dec 21, 2021
Spinocerebellar ataxia type 401Dec 21, 2021
Spinocerebellar ataxia type 422Dec 21, 2021
Spinocerebellar ataxia type 52Dec 21, 2021
Spinocerebellar ataxia type 61Aug 5, 2020
Spinocerebellar ataxia, autosomal recessive 271Dec 21, 2021
Spondylo-ocular syndrome1Aug 5, 2020
Spondyloepimetaphyseal dysplasia with multiple dislocations1Aug 5, 2020
Spondyloepiphyseal dysplasia congenita1Aug 5, 2020
Spondylometaphyseal dysplasia - Sutcliffe type2Dec 21, 2021
Spondylometaphyseal dysplasia, Kozlowski type1Dec 21, 2021
Spongy degeneration of central nervous system2Jul 14, 2020
Stickler syndrome type 11Dec 21, 2021
Structural heart defects and renal anomalies syndrome2Aug 5, 2020
Stuve-Wiedemann syndrome1Dec 21, 2021
Succinyl-CoA acetoacetate transferase deficiency1Jul 14, 2020
Sudden cardiac failure, infantile1Dec 21, 2021
Syndromic X-linked intellectual disability Lubs type1Aug 5, 2020
Syndromic X-linked intellectual disability Najm type3Dec 21, 2021
Syndromic X-linked intellectual disability Raymond type1Dec 21, 2021
TCF12-related craniosynostosis1Dec 21, 2021
Tall stature-intellectual disability-facial dysmorphism syndrome1Aug 5, 2020
Tangier disease1Nov 29, 2021
Tay-Sachs disease3Jul 14, 2020
Tay-Sachs disease, variant AB3Jul 14, 2020
Thanatophoric dysplasia type 11Dec 21, 2021
Thyroglobulin synthesis defect1Aug 5, 2020
Thyroid dyshormonogenesis 61Nov 29, 2021
Tibial muscular dystrophy1Dec 21, 2021
Timothy syndrome2Dec 21, 2021
Tourette syndrome2Dec 21, 2021
Triglyceride storage disease with ichthyosis1Jul 14, 2020
Tuberous sclerosis 11Dec 21, 2021
Tuberous sclerosis 23Dec 21, 2021
Turner syndrome1Jul 14, 2020
Type 2 diabetes mellitus2Dec 21, 2021
Tyrosinemia type I3Jul 14, 2020
Ullrich congenital muscular dystrophy 11Aug 5, 2020
Ullrich congenital muscular dystrophy 22Dec 21, 2021
Usher syndrome type 2C1Aug 5, 2020
Van Maldergem syndrome 11Dec 21, 2021
Variegate porphyria1Dec 21, 2021
Vasculitis due to ADA2 deficiency1Dec 21, 2021
Very long chain acyl-CoA dehydrogenase deficiency1Aug 5, 2020
Visceral myopathy1Dec 21, 2021
Werdnig-Hoffmann disease1Jul 14, 2020
Wieacker-Wolff syndrome1Dec 21, 2021
Wiedemann-Steiner syndrome2Dec 21, 2021
Wilson disease6Dec 21, 2021
Wolfram-like syndrome1Dec 21, 2021
Worth disease1Dec 21, 2021
X-linked Alport syndrome11Feb 22, 2022
X-linked Emery-Dreifuss muscular dystrophy1Aug 5, 2020
X-linked agammaglobulinemia2Jul 14, 2020
X-linked chondrodysplasia punctata 11Aug 5, 2020
X-linked intellectual disability with marfanoid habitus1Dec 21, 2021
X-linked intellectual disability, Cantagrel type2Aug 5, 2020
X-linked intellectual disability, van Esch type1Dec 21, 2021
X-linked intellectual disability-cerebellar hypoplasia syndrome2Dec 21, 2021
X-linked lissencephaly with abnormal genitalia1Dec 21, 2021
X-linked progressive cerebellar ataxia2Dec 21, 2021
X-linked sideroblastic anemia 11Dec 21, 2021
X-linked sideroblastic anemia with ataxia1Dec 21, 2021
ZTTK syndrome1Dec 21, 2021
Zimmermann-Laband syndrome 11Aug 5, 2020
Zimmermann-laband syndrome 31Dec 21, 2021
alpha Thalassemia1Dec 21, 2021
beta Thalassemia5Nov 29, 2021
cblC type of combined methylmalonic aciduria and homocystinuria1Jul 14, 2020
von Willebrand disease type 11Dec 21, 2021
von Willebrand disorder1Jul 14, 2020

Testing in GTR

Disease nameNumber of tests
11p partial monosomy syndrome1 test
2-aminoadipic 2-oxoadipic aciduria2 tests
2-hydroxyglutaric aciduria3 tests
3 beta-Hydroxysteroid dehydrogenase deficiency8 tests
3-Methylglutaconic aciduria type 210 tests
3-Methylglutaconic aciduria type 33 tests
3-hydroxy-3-methylglutaryl-CoA synthase deficiency9 tests
3-methylcrotonyl-CoA carboxylase 1 deficiency8 tests
3-methylcrotonyl-CoA carboxylase 2 deficiency9 tests
3-methylglutaconic aciduria type 111 tests
3-methylglutaconic aciduria type 511 tests
3-methylglutaconic aciduria type 87 tests
3-methylglutaconic aciduria type 94 tests
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome11 tests
3M syndrome 15 tests
3M syndrome 24 tests
3M syndrome 31 test
3MC syndrome 13 tests
3MC syndrome 22 tests
3MC syndrome 31 test
46,XX sex reversal 11 test
46,XY disorder of sex development due to testicular 17,20-desmolase deficiency2 tests
46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome2 tests
46,XY sex reversal 25 tests
46,XY sex reversal 71 test
46,XY sex reversal 92 tests
5-Oxoprolinase deficiency3 tests
5p partial monosomy syndrome1 test
6-Pyruvoyl-tetrahydrobiopterin synthase deficiency10 tests
7q11.23 microduplication syndrome1 test
ABCD syndrome6 tests
ABri amyloidosis2 tests
ACTH-independent macronodular adrenal hyperplasia 24 tests
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder3 tests
ADULT syndrome4 tests
ADan amyloidosis6 tests
AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE1 test
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome4 tests
AICA-ribosiduria4 tests
ALDH18A1-related de Barsy syndrome3 tests
ALG1-CDG7 tests
ALG11-CDG6 tests
ALG12-congenital disorder of glycosylation6 tests
ALG2-CDG1 test
ALG3-CDG5 tests
ALG8 congenital disorder of glycosylation5 tests
ALG9 congenital disorder of glycosylation1 test
Aarskog syndrome6 tests
Abdominal obesity-metabolic syndrome 31 test
Abetalipoproteinaemia5 tests
Abortive cerebellar ataxia8 tests
Acatalasia2 tests
Accelerated tumor formation, susceptibility to1 test
Acetyl-CoA: carboxylase deficiency4 tests
Acetylcholinesterase deficiency1 test
Achondrogenesis, type IA4 tests
Achondrogenesis, type IB2 tests
Achondroplasia1 test
Achromatopsia 22 tests
Achromatopsia 34 tests
Achromatopsia 42 tests
Achromatopsia 61 test
Achromatopsia 71 test
Acid phosphatase deficiency1 test
Acne inversa, familial, 11 test
Acne inversa, familial, 21 test
Acne inversa, familial, 34 tests
Acquired hemoglobin H disease11 tests
Acquired polycythemia vera2 tests
Acral peeling skin syndrome3 tests
Acrocallosal syndrome11 tests
Acrocapitofemoral dysplasia3 tests
Acrocephalosyndactyly type I3 tests
Acrodermatitis continua suppurativa of Hallopeau1 test
Acrodysostosis 1 with or without hormone resistance7 tests
Acrodysostosis 2 with or without hormone resistance5 tests
Acroerythrokeratoderma1 test
Acromegaly, predisposition to, due to germline GPR101 mutation1 test
Acromelic frontonasal dysostosis2 tests
Acromicric dysplasia2 tests
Actin accumulation myopathy7 tests
Action myoclonus-renal failure syndrome6 tests
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins3 tests
Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome3 tests
Acute intermittent porphyria4 tests
Acute lymphoid leukemia5 tests
Acute myeloid leukemia17 tests
Acute necrotizing encephalopathy of childhood1 test
Acute promyelocytic leukemia3 tests
Acyl-CoA dehydrogenase 9 deficiency12 tests
Acyl-CoA oxidase deficiency4 tests
Adams-Oliver syndrome 18 tests
Adams-Oliver syndrome 25 tests
Adams-Oliver syndrome 33 tests
Adams-Oliver syndrome 44 tests
Adams-Oliver syndrome 51 test
Adams-Oliver syndrome 64 tests
Adenine phosphoribosyltransferase deficiency1 test
Adenosine kinase deficiency8 tests
Adenylosuccinate lyase deficiency10 tests
Adrenocortical carcinoma, hereditary1 test
Adrenoleukodystrophy12 tests
Adult hypophosphatasia8 tests
Adult polyglucosan body disease9 tests
Adult-onset autosomal dominant demyelinating leukodystrophy2 tests
Adult-onset foveomacular vitelliform dystrophy1 test
Advanced sleep phase syndrome 12 tests
Agammaglobulinemia 2, autosomal recessive6 tests
Agammaglobulinemia 3, autosomal recessive6 tests
Agammaglobulinemia 4, autosomal recessive6 tests
Agammaglobulinemia 5, autosomal dominant5 tests
Agammaglobulinemia 6, autosomal recessive6 tests
Agammaglobulinemia 7, autosomal recessive2 tests
Agammaglobulinemia 8, autosomal dominant1 test
Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome1 test
Age related macular degeneration 111 test
Age related macular degeneration 142 tests
Age related macular degeneration 62 tests
Age related macular degeneration 74 tests
Age related macular degeneration 81 test
Agenesis of the corpus callosum with peripheral neuropathy5 tests
Agnathia-otocephaly complex1 test
Aicardi Goutieres syndrome2 tests
Aicardi-Goutieres syndrome 12 tests
Aicardi-Goutieres syndrome 210 tests
Aicardi-Goutieres syndrome 38 tests
Aicardi-Goutieres syndrome 48 tests
Aicardi-Goutieres syndrome 57 tests
Aicardi-Goutieres syndrome 62 tests
Al-Raqad syndrome1 test
Alacrima, achalasia, and intellectual disability syndrome5 tests
Alagille syndrome due to a JAG1 point mutation3 tests
Alagille syndrome due to a NOTCH2 point mutation2 tests
Alazami-Yuan syndrome3 tests
Albinism1 test
Alcohol sensitivity, acute2 tests
Aldosterone-producing adenoma with seizures and neurological abnormalities4 tests
Alexander disease9 tests
Alkaptonuria4 tests
Alkuraya-Kucinskas syndrome2 tests
Allan-Herndon-Dudley syndrome9 tests
Alobar holoprosencephaly1 test
Alopecia universalis congenita2 tests
Alpha thalassemia-X-linked intellectual disability syndrome2 tests
Alpha-1-antitrypsin deficiency7 tests
Alpha-2-macroglobulin deficiency1 test
Alpha-2-plasmin inhibitor deficiency1 test
Alpha-N-acetylgalactosaminidase deficiency type 16 tests
Alpha-methylacyl-CoA racemase deficiency6 tests
Alport syndrome1 test
Alstrom syndrome4 tests
Alveolar capillary dysplasia with pulmonary venous misalignment4 tests
Alveolar rhabdomyosarcoma5 tests
Alzheimer disease2 tests
Alzheimer disease 181 test
Alzheimer disease 26 tests
Alzheimer disease 39 tests
Alzheimer disease 42 tests
Alzheimer disease 61 test
Alzheimer disease 93 tests
Alzheimer disease type 13 tests
Amelocerebrohypohidrotic syndrome5 tests
Amelogenesis imperfecta - hypoplastic autosomal dominant - local1 test
Amelogenesis imperfecta hypomaturation type 2A21 test
Amelogenesis imperfecta hypomaturation type 2A31 test
Amelogenesis imperfecta hypomaturation type 2A41 test
Amelogenesis imperfecta type 1A2 tests
Amelogenesis imperfecta type 1C1 test
Amelogenesis imperfecta type 1E2 tests
Amelogenesis imperfecta type 1F1 test
Amelogenesis imperfecta type 1G1 test
Amelogenesis imperfecta type 1H1 test
Amelogenesis imperfecta type 2A11 test
Amelogenesis imperfecta, hypocalcification type1 test
Amelotin deficiency1 test
Aminoacylase 1 deficiency5 tests
Aminoglycoside-induced deafness9 tests
Amish lethal microcephaly12 tests
Amyloidogenic transthyretin amyloidosis5 tests
Amyloidosis, primary localized cutaneous, 11 test
Amyloidosis, primary localized cutaneous, 21 test
Amyotrophic lateral sclerosis4 tests
Amyotrophic lateral sclerosis type 110 tests
Amyotrophic lateral sclerosis type 105 tests
Amyotrophic lateral sclerosis type 111 test
Amyotrophic lateral sclerosis type 125 tests
Amyotrophic lateral sclerosis type 154 tests
Amyotrophic lateral sclerosis type 162 tests
Amyotrophic lateral sclerosis type 184 tests
Amyotrophic lateral sclerosis type 193 tests
Amyotrophic lateral sclerosis type 2, juvenile2 tests
Amyotrophic lateral sclerosis type 202 tests
Amyotrophic lateral sclerosis type 215 tests
Amyotrophic lateral sclerosis type 226 tests
Amyotrophic lateral sclerosis type 46 tests
Amyotrophic lateral sclerosis type 64 tests
Amyotrophic lateral sclerosis type 85 tests
Amyotrophic lateral sclerosis type 94 tests
Amyotrophic lateral sclerosis, susceptibility to, 245 tests
Amyotrophic lateral sclerosis-parkinsonism-dementia complex1 test
Amyotrophic neuralgia1 test
Anauxetic dysplasia 12 tests
Anauxetic dysplasia 22 tests
Anauxetic dysplasia 31 test
Andersen Tawil syndrome3 tests
Androgen-binding protein deficiency1 test
Anemia, congenital dyserythropoietic, type 1a2 tests
Anemia, nonspherocytic hemolytic, due to G6PD deficiency12 tests
Aneurysm-osteoarthritis syndrome4 tests
Angelman syndrome11 tests
Angelman syndrome-like2 tests
Angioedema, hereditary, autosomal recessive1 test
Anhaptoglobinemia1 test
Aniridia 12 tests
Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome2 tests
Annular epidermolytic ichthyosis1 test
Anophthalmia-microphthalmia syndrome2 tests
Anophthalmia/microphthalmia-esophageal atresia syndrome12 tests
Anterior segment dysgenesis 11 test
Anterior segment dysgenesis 32 tests
Anterior segment dysgenesis 62 tests
Anterior segment dysgenesis 75 tests
Antigen in Cartwright blood group system2 tests
Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis3 tests
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis3 tests
Anxiety2 tests
Aortic aneurysm, familial thoracic 103 tests
Aortic aneurysm, familial thoracic 41 test
Aortic aneurysm, familial thoracic 63 tests
Aortic aneurysm, familial thoracic 72 tests
Aortic aneurysm, familial thoracic 84 tests
Aortic aneurysm, familial thoracic 94 tests
Aortic valve disease 19 tests
Aortic valve disease 21 test
Aortic valve disease 31 test
Aplastic anemia14 tests
Apolipoprotein c-III deficiency1 test
Apparent mineralocorticoid excess3 tests
Arginase deficiency9 tests
Arginine:glycine amidinotransferase deficiency3 tests
Argininosuccinate lyase deficiency7 tests
Ariboflavinosis1 test
Aromatase deficiency3 tests
Arrhythmogenic cardiomyopathy with woolly hair and keratoderma1 test
Arrhythmogenic right ventricular cardiomyopathy1 test
Arrhythmogenic right ventricular dysplasia 16 tests
Arrhythmogenic right ventricular dysplasia 101 test
Arrhythmogenic right ventricular dysplasia 112 tests
Arrhythmogenic right ventricular dysplasia 121 test
Arrhythmogenic right ventricular dysplasia 133 tests
Arrhythmogenic right ventricular dysplasia 51 test
Arrhythmogenic right ventricular dysplasia 82 tests
Arrhythmogenic right ventricular dysplasia 92 tests
Arrhythmogenic right ventricular dysplasia, familial, 141 test
Arterial calcification, generalized, of infancy, 15 tests
Arterial calcification, generalized, of infancy, 21 test
Arterial tortuosity syndrome6 tests
Arthrogryposis multiplex congenita1 test
Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect2 tests
Arthrogryposis multiplex congenita 53 tests
Arthrogryposis multiplex congenita 64 tests
Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development2 tests
Arthrogryposis, distal, type 1A2 tests
Arthrogryposis, distal, type 2B23 tests
Arthrogryposis, distal, with impaired proprioception and touch3 tests
Arthrogryposis, renal dysfunction, and cholestasis 18 tests
Arthrogryposis, renal dysfunction, and cholestasis 27 tests
Arts syndrome4 tests
Ashkenazi Jewish disorders2 tests
Aspartylglucosaminuria7 tests
Asperger syndrome, X-linked, susceptibility to, 14 tests
Asphyxiating thoracic dystrophy 23 tests
Asphyxiating thoracic dystrophy 34 tests
Asphyxiating thoracic dystrophy 41 test
Ataxia1 test
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome5 tests
Ataxia - oculomotor apraxia type 42 tests
Ataxia with oculomotor apraxia type 37 tests
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia9 tests
Ataxia-telangiectasia syndrome12 tests
Ataxia-telangiectasia-like disorder 18 tests
Ateleiotic dwarfism1 test
Atelosteogenesis type I4 tests
Atelosteogenesis type II7 tests
Atelosteogenesis type III1 test
Atopic dermatitis 21 test
Atrial conduction disease1 test
Atrial fibrillation, familial, 101 test
Atrial fibrillation, familial, 111 test
Atrial fibrillation, familial, 121 test
Atrial fibrillation, familial, 141 test
Atrial fibrillation, familial, 181 test
Atrial fibrillation, familial, 33 tests
Atrial fibrillation, familial, 41 test
Atrial fibrillation, familial, 61 test
Atrial fibrillation, familial, 73 tests
Atrial fibrillation, familial, 91 test
Atrial septal defect 25 tests
Atrial septal defect 31 test
Atrial septal defect 43 tests
Atrial septal defect 61 test
Atrial septal defect 73 tests
Atrial septal defect 83 tests
Atrial septal defect 93 tests
Atrial standstill 11 test
Atrial standstill 21 test
Atrichia with papular lesions2 tests
Atrioventricular septal defect 41 test
Atrioventricular septal defect 53 tests
Atrioventricular septal defect, susceptibility to, 25 tests
Atrophia bulborum hereditaria2 tests
Attention deficit hyperactivity disorder1 test
Atypical Gaucher disease due to saposin C deficiency2 tests
Atypical chronic myeloid leukemia, BCR-ABL1 negative1 test
Atypical glycine encephalopathy2 tests
Atypical hemolytic-uremic syndrome1 test
Atypical hemolytic-uremic syndrome with B factor anomaly1 test
Atypical hemolytic-uremic syndrome with C3 anomaly4 tests
Atypical hemolytic-uremic syndrome with I factor anomaly3 tests
Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly3 tests
Atypical hemolytic-uremic syndrome with thrombomodulin anomaly4 tests
Auditory neuropathy-optic atrophy syndrome5 tests
Auriculocondylar syndrome1 test
Auriculocondylar syndrome 12 tests
Auriculocondylar syndrome 23 tests
Autism9 tests
Autism spectrum disorder2 tests
Autism spectrum disorder - epilepsy - arthrogryposis syndrome2 tests
Autism spectrum disorder due to AUTS2 deficiency2 tests
Autism, SETD2 related1 test
Autism, susceptibility to, 153 tests
Autism, susceptibility to, 163 tests
Autism, susceptibility to, 173 tests
Autism, susceptibility to, 183 tests
Autism, susceptibility to, 191 test
Autism, susceptibility to, 52 tests
Autism, susceptibility to, X-linked 11 test
Autism, susceptibility to, X-linked 24 tests
Autism, susceptibility to, X-linked 38 tests
Autism, susceptibility to, X-linked 43 tests
Autism, susceptibility to, X-linked 52 tests
Autoimmune interstitial lung disease-arthritis syndrome1 test
Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency1 test
Autoimmune lymphoproliferative syndrome type 110 tests
Autoimmune lymphoproliferative syndrome type 46 tests
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD3 tests
Autoimmune thrombocytopenic purpura2 tests
Autoimmune thyroid disease, susceptibility to, 34 tests
Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation4 tests
Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis1 test
Autoinflammatory syndrome, familial, Behcet-like 11 test
Autosomal dominant Charcot-Marie-Tooth disease type 2W2 tests
Autosomal dominant Kenny-Caffey syndrome1 test
Autosomal dominant Parkinson disease 13 tests
Autosomal dominant Parkinson disease 44 tests
Autosomal dominant Parkinson disease 85 tests
Autosomal dominant Robinow syndrome 16 tests
Autosomal dominant Robinow syndrome 21 test
Autosomal dominant Robinow syndrome 33 tests
Autosomal dominant aplasia and myelodysplasia3 tests
Autosomal dominant auditory neuropathy 13 tests
Autosomal dominant centronuclear myopathy8 tests
Autosomal dominant cerebellar ataxia, deafness and narcolepsy5 tests
Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures2 tests
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures1 test
Autosomal dominant deafness - onychodystrophy syndrome1 test
Autosomal dominant distal renal tubular acidosis2 tests
Autosomal dominant hypocalcemia 19 tests
Autosomal dominant hypocalcemia 26 tests
Autosomal dominant hypophosphatemic rickets6 tests
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome4 tests
Autosomal dominant isolated somatotropin deficiency1 test
Autosomal dominant keratitis-ichthyosis-hearing loss syndrome3 tests
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)4 tests
Autosomal dominant limb-girdle muscular dystrophy type 1F3 tests
Autosomal dominant limb-girdle muscular dystrophy type 1G3 tests
Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency1 test
Autosomal dominant mitochondrial myopathy with exercise intolerance4 tests
Autosomal dominant nocturnal frontal lobe epilepsy 15 tests
Autosomal dominant nocturnal frontal lobe epilepsy 34 tests
Autosomal dominant nocturnal frontal lobe epilepsy 45 tests
Autosomal dominant nocturnal frontal lobe epilepsy 56 tests
Autosomal dominant non-syndromic intellectual disability3 tests
Autosomal dominant nonsyndromic hearing loss 17 tests
Autosomal dominant nonsyndromic hearing loss 103 tests
Autosomal dominant nonsyndromic hearing loss 111 test
Autosomal dominant nonsyndromic hearing loss 121 test
Autosomal dominant nonsyndromic hearing loss 138 tests
Autosomal dominant nonsyndromic hearing loss 152 tests
Autosomal dominant nonsyndromic hearing loss 171 test
Autosomal dominant nonsyndromic hearing loss 201 test
Autosomal dominant nonsyndromic hearing loss 221 test
Autosomal dominant nonsyndromic hearing loss 233 tests
Autosomal dominant nonsyndromic hearing loss 252 tests
Autosomal dominant nonsyndromic hearing loss 272 tests
Autosomal dominant nonsyndromic hearing loss 282 tests
Autosomal dominant nonsyndromic hearing loss 2A4 tests
Autosomal dominant nonsyndromic hearing loss 2B1 test
Autosomal dominant nonsyndromic hearing loss 362 tests
Autosomal dominant nonsyndromic hearing loss 3A2 tests
Autosomal dominant nonsyndromic hearing loss 3B3 tests
Autosomal dominant nonsyndromic hearing loss 401 test
Autosomal dominant nonsyndromic hearing loss 412 tests
Autosomal dominant nonsyndromic hearing loss 441 test
Autosomal dominant nonsyndromic hearing loss 481 test
Autosomal dominant nonsyndromic hearing loss 4A2 tests
Autosomal dominant nonsyndromic hearing loss 4B1 test
Autosomal dominant nonsyndromic hearing loss 53 tests
Autosomal dominant nonsyndromic hearing loss 501 test
Autosomal dominant nonsyndromic hearing loss 561 test
Autosomal dominant nonsyndromic hearing loss 612 tests
Autosomal dominant nonsyndromic hearing loss 645 tests
Autosomal dominant nonsyndromic hearing loss 661 test
Autosomal dominant nonsyndromic hearing loss 671 test
Autosomal dominant nonsyndromic hearing loss 681 test
Autosomal dominant nonsyndromic hearing loss 701 test
Autosomal dominant nonsyndromic hearing loss 92 tests
Autosomal dominant optic atrophy classic form1 test
Autosomal dominant osteopetrosis 21 test
Autosomal dominant polycystic kidney disease1 test
Autosomal dominant popliteal pterygium syndrome1 test
Autosomal dominant pseudohypoaldosteronism type 16 tests
Autosomal dominant sensory ataxia 12 tests
Autosomal dominant sideroblastic anemia4 tests
Autosomal dominant slowed nerve conduction velocity4 tests
Autosomal dominant striatal neurodegeneration type 12 tests
Autosomal dominant vitreoretinochoroidopathy1 test
Autosomal dominant woolly hair3 tests
Autosomal recessive Alport syndrome7 tests
Autosomal recessive DOPA responsive dystonia5 tests
Autosomal recessive Kenny-Caffey syndrome4 tests
Autosomal recessive Parkinson disease 143 tests
Autosomal recessive Robinow syndrome7 tests
Autosomal recessive agammaglobulinemia 12 tests
Autosomal recessive amelia1 test
Autosomal recessive ataxia due to ubiquinone deficiency9 tests
Autosomal recessive ataxia, Beauce type11 tests
Autosomal recessive axonal neuropathy with neuromyotonia6 tests
Autosomal recessive bestrophinopathy1 test
Autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome due to TUD deficiency2 tests
Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome1 test
Autosomal recessive congenital ichthyosis 17 tests
Autosomal recessive congenital ichthyosis 104 tests
Autosomal recessive congenital ichthyosis 112 tests
Autosomal recessive congenital ichthyosis 25 tests
Autosomal recessive congenital ichthyosis 34 tests
Autosomal recessive congenital ichthyosis 4A2 tests
Autosomal recessive congenital ichthyosis 4B5 tests
Autosomal recessive congenital ichthyosis 54 tests
Autosomal recessive congenital ichthyosis 65 tests
Autosomal recessive congenital ichthyosis 84 tests
Autosomal recessive congenital ichthyosis 94 tests
Autosomal recessive cutis laxa type 2B3 tests
Autosomal recessive cutis laxa type 2C2 tests
Autosomal recessive cutis laxa type 2D4 tests
Autosomal recessive distal renal tubular acidosis1 test
Autosomal recessive distal spinal muscular atrophy 12 tests
Autosomal recessive distal spinal muscular atrophy 22 tests
Autosomal recessive early-onset Parkinson disease 232 tests
Autosomal recessive early-onset Parkinson disease 67 tests
Autosomal recessive early-onset Parkinson disease 76 tests
Autosomal recessive hypophosphatemic bone disease5 tests
Autosomal recessive juvenile Parkinson disease 23 tests
Autosomal recessive limb-girdle muscular dystrophy type 2A5 tests
Autosomal recessive limb-girdle muscular dystrophy type 2B1 test
Autosomal recessive limb-girdle muscular dystrophy type 2D5 tests
Autosomal recessive limb-girdle muscular dystrophy type 2E3 tests
Autosomal recessive limb-girdle muscular dystrophy type 2F1 test
Autosomal recessive limb-girdle muscular dystrophy type 2G2 tests
Autosomal recessive limb-girdle muscular dystrophy type 2I8 tests
Autosomal recessive limb-girdle muscular dystrophy type 2J5 tests
Autosomal recessive limb-girdle muscular dystrophy type 2K3 tests
Autosomal recessive limb-girdle muscular dystrophy type 2L2 tests
Autosomal recessive limb-girdle muscular dystrophy type 2M3 tests
Autosomal recessive limb-girdle muscular dystrophy type 2N2 tests
Autosomal recessive limb-girdle muscular dystrophy type 2P7 tests
Autosomal recessive limb-girdle muscular dystrophy type 2Q6 tests
Autosomal recessive limb-girdle muscular dystrophy type 2R12 tests
Autosomal recessive limb-girdle muscular dystrophy type 2T6 tests
Autosomal recessive limb-girdle muscular dystrophy type 2U6 tests
Autosomal recessive limb-girdle muscular dystrophy type 2W2 tests
Autosomal recessive limb-girdle muscular dystrophy type 2X2 tests
Autosomal recessive limb-girdle muscular dystrophy type 2Y2 tests
Autosomal recessive limb-girdle muscular dystrophy type R184 tests
Autosomal recessive lower motor neuron disease with childhood onset3 tests
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency2 tests
Autosomal recessive multiple pterygium syndrome4 tests
Autosomal recessive nonsyndromic hearing loss 1011 test
Autosomal recessive nonsyndromic hearing loss 1021 test
Autosomal recessive nonsyndromic hearing loss 1031 test
Autosomal recessive nonsyndromic hearing loss 122 tests
Autosomal recessive nonsyndromic hearing loss 153 tests
Autosomal recessive nonsyndromic hearing loss 164 tests
Autosomal recessive nonsyndromic hearing loss 18A5 tests
Autosomal recessive nonsyndromic hearing loss 18B1 test
Autosomal recessive nonsyndromic hearing loss 1A8 tests
Autosomal recessive nonsyndromic hearing loss 1B3 tests
Autosomal recessive nonsyndromic hearing loss 28 tests
Autosomal recessive nonsyndromic hearing loss 213 tests
Autosomal recessive nonsyndromic hearing loss 223 tests
Autosomal recessive nonsyndromic hearing loss 232 tests
Autosomal recessive nonsyndromic hearing loss 243 tests
Autosomal recessive nonsyndromic hearing loss 253 tests
Autosomal recessive nonsyndromic hearing loss 261 test
Autosomal recessive nonsyndromic hearing loss 285 tests
Autosomal recessive nonsyndromic hearing loss 293 tests
Autosomal recessive nonsyndromic hearing loss 33 tests
Autosomal recessive nonsyndromic hearing loss 302 tests
Autosomal recessive nonsyndromic hearing loss 312 tests
Autosomal recessive nonsyndromic hearing loss 321 test
Autosomal recessive nonsyndromic hearing loss 353 tests
Autosomal recessive nonsyndromic hearing loss 363 tests
Autosomal recessive nonsyndromic hearing loss 373 tests
Autosomal recessive nonsyndromic hearing loss 381 test
Autosomal recessive nonsyndromic hearing loss 394 tests
Autosomal recessive nonsyndromic hearing loss 45 tests
Autosomal recessive nonsyndromic hearing loss 401 test
Autosomal recessive nonsyndromic hearing loss 423 tests
Autosomal recessive nonsyndromic hearing loss 441 test
Autosomal recessive nonsyndromic hearing loss 486 tests
Autosomal recessive nonsyndromic hearing loss 493 tests
Autosomal recessive nonsyndromic hearing loss 532 tests
Autosomal recessive nonsyndromic hearing loss 593 tests
Autosomal recessive nonsyndromic hearing loss 63 tests
Autosomal recessive nonsyndromic hearing loss 613 tests
Autosomal recessive nonsyndromic hearing loss 633 tests
Autosomal recessive nonsyndromic hearing loss 661 test
Autosomal recessive nonsyndromic hearing loss 673 tests
Autosomal recessive nonsyndromic hearing loss 681 test
Autosomal recessive nonsyndromic hearing loss 73 tests
Autosomal recessive nonsyndromic hearing loss 703 tests
Autosomal recessive nonsyndromic hearing loss 746 tests
Autosomal recessive nonsyndromic hearing loss 761 test
Autosomal recessive nonsyndromic hearing loss 773 tests
Autosomal recessive nonsyndromic hearing loss 793 tests
Autosomal recessive nonsyndromic hearing loss 83 tests
Autosomal recessive nonsyndromic hearing loss 84A2 tests
Autosomal recessive nonsyndromic hearing loss 84B1 test
Autosomal recessive nonsyndromic hearing loss 881 test
Autosomal recessive nonsyndromic hearing loss 895 tests
Autosomal recessive nonsyndromic hearing loss 93 tests
Autosomal recessive nonsyndromic hearing loss 912 tests
Autosomal recessive nonsyndromic hearing loss 932 tests
Autosomal recessive nonsyndromic hearing loss 981 test
Autosomal recessive omodysplasia6 tests
Autosomal recessive optic atrophy, OPA7 type7 tests
Autosomal recessive osteopetrosis 17 tests
Autosomal recessive osteopetrosis 24 tests
Autosomal recessive osteopetrosis 41 test
Autosomal recessive osteopetrosis 54 tests
Autosomal recessive osteopetrosis 62 tests
Autosomal recessive osteopetrosis 71 test
Autosomal recessive osteopetrosis 84 tests
Autosomal recessive polycystic kidney disease4 tests
Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity1 test
Autosomal recessive primary microcephaly2 tests
Autosomal recessive proximal renal tubular acidosis5 tests
Autosomal recessive pseudohypoaldosteronism type 15 tests
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency3 tests
Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency6 tests
Autosomal recessive spastic paraplegia type 764 tests
Autosomal recessive spinocerebellar ataxia 105 tests
Autosomal recessive spinocerebellar ataxia 111 test
Autosomal recessive spinocerebellar ataxia 127 tests
Autosomal recessive spinocerebellar ataxia 135 tests
Autosomal recessive spinocerebellar ataxia 154 tests
Autosomal recessive spinocerebellar ataxia 164 tests
Autosomal recessive spinocerebellar ataxia 175 tests
Autosomal recessive spinocerebellar ataxia 185 tests
Autosomal recessive spinocerebellar ataxia 24 tests
Autosomal recessive spinocerebellar ataxia 203 tests
Autosomal recessive spinocerebellar ataxia 79 tests
Autosomal recessive spondylometaphyseal dysplasia, Megarbane type2 tests
Autosomal systemic lupus erythematosus type 162 tests
Axenfeld-Rieger syndrome type 18 tests
Axenfeld-Rieger syndrome type 311 tests
Ayme-Gripp syndrome3 tests
Azorean disease4 tests
B4GALT1-CDG8 tests
BAP1-related tumor predisposition syndrome2 tests
BCG infection, generalized familial1 test
BDV SYNDROME1 test
BENTA disease4 tests
BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME3 tests
BLOOD GROUP--LUTHERAN INHIBITOR2 tests
BNAR syndrome5 tests
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 191 test
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 201 test
Bailey-Bloch congenital myopathy3 tests
Baller-Gerold syndrome1 test
Bamforth-Lazarus syndrome2 tests
Band heterotopia of brain2 tests
Bannayan-Riley-Ruvalcaba syndrome1 test
Baraitser-Winter syndrome 16 tests
Baraitser-winter syndrome 25 tests
Bardet-Biedl syndrome3 tests
Bardet-Biedl syndrome 19 tests
Bardet-Biedl syndrome 109 tests
Bardet-Biedl syndrome 1110 tests
Bardet-Biedl syndrome 129 tests
Bardet-Biedl syndrome 138 tests
Bardet-Biedl syndrome 146 tests
Bardet-Biedl syndrome 154 tests
Bardet-Biedl syndrome 176 tests
Bardet-Biedl syndrome 181 test
Bardet-Biedl syndrome 197 tests
Bardet-Biedl syndrome 22 tests
Bardet-Biedl syndrome 310 tests
Bardet-Biedl syndrome 410 tests
Bardet-Biedl syndrome 59 tests
Bardet-Biedl syndrome 613 tests
Bardet-Biedl syndrome 79 tests
Bardet-Biedl syndrome 81 test
Bardet-Biedl syndrome 99 tests
Bardet-biedl syndrome 215 tests
Barrett esophagus2 tests
Bartsocas-Papas syndrome1 test
Bartter disease type 18 tests
Bartter disease type 24 tests
Bartter disease type 31 test
Bartter disease type 4B5 tests
Bartter disease type 4a8 tests
Bartter syndrome1 test
Basal cell carcinoma2 tests
Basal cell carcinoma, susceptibility to, 12 tests
Basal cell carcinoma, susceptibility to, 72 tests
Basal ganglia calcification, idiopathic, 52 tests
Basal ganglia calcification, idiopathic, 63 tests
Basal ganglia calcification, idiopathic, 7, autosomal recessive2 tests
Basal ganglia calcification, idiopathic, 8, autosomal recessive2 tests
Beare-Stevenson cutis gyrata syndrome3 tests
Becker muscular dystrophy6 tests
Beckwith-Wiedemann syndrome11 tests
Benign concentric annular macular dystrophy1 test
Benign familial hematuria3 tests
Benign hereditary chorea2 tests
Benign recurrent intrahepatic cholestasis type 15 tests
Benign scapuloperoneal muscular dystrophy with cardiomyopathy2 tests
Bernard Soulier syndrome8 tests
Bernard-Soulier syndrome, type A2, autosomal dominant3 tests
Beta-D-mannosidosis6 tests
Beta-hydroxyisobutyryl-CoA deacylase deficiency10 tests
Beta-thalassemia-X-linked thrombocytopenia syndrome3 tests
Bethlem myopathy 110 tests
Bethlem myopathy 25 tests
Bietti crystalline corneoretinal dystrophy2 tests
Bifunctional peroxisomal enzyme deficiency8 tests
Bilateral frontoparietal polymicrogyria7 tests
Bilateral parasagittal parieto-occipital polymicrogyria6 tests
Bile acid conjugation defect 12 tests
Bile acid malabsorption, primary1 test
Bilirubin, serum level of, quantitative trait locus 16 tests
Biotin-responsive basal ganglia disease10 tests
Biotinidase deficiency10 tests
Birk-Barel syndrome3 tests
Blau syndrome2 tests
Bleeding diathesis due to thromboxane synthesis deficiency1 test
Bleeding disorder, platelet-type, 212 tests
Bleeding disorder, platelet-type, 244 tests
Blepharocheilodontic syndrome 21 test
Blepharophimosis, ptosis, and epicanthus inversus syndrome type 11 test
Blepharophimosis, ptosis, and epicanthus inversus syndrome type 21 test
Blood group, Gerbich system1 test
Bloom syndrome4 tests
Body mass index quantitative trait locus 123 tests
Body mass index quantitative trait locus 181 test
Body mass index quantitative trait locus 44 tests
Body mass index quantitative trait locus 91 test
Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency2 tests
Bohring-Opitz syndrome1 test
Bone marrow failure syndrome 32 tests
Bone marrow failure syndrome 41 test
Bone mineral density quantitative trait locus 181 test
Bone osteosarcoma3 tests
Borjeson-Forssman-Lehmann syndrome9 tests
Bosch-Boonstra-Schaaf optic atrophy syndrome6 tests
Bothnia retinal dystrophy5 tests
Brachydactyly type A1D4 tests
Brachydactyly type A24 tests
Brachydactyly type B11 test
Brachydactyly type E13 tests
Brachydactyly type E23 tests
Brachyolmia-amelogenesis imperfecta syndrome2 tests
Bradyopsia3 tests
Brain small vessel disease 1 with or without ocular anomalies14 tests
Brain small vessel disease 34 tests
Brain-lung-thyroid syndrome2 tests
Branched-chain aminotransferase 1 deficiency1 test
Branched-chain aminotransferase 2 deficiency1 test
Branched-chain keto acid dehydrogenase kinase deficiency8 tests
Branchiooculofacial syndrome6 tests
Branchiootic syndrome 18 tests
Branchiootic syndrome 35 tests
Branchiootorenal syndrome 14 tests
Branchiootorenal syndrome 26 tests
Breast and colorectal cancer, susceptibility to1 test
Breast cancer 31 test
Breast cancer, 11-22 translocation-associated1 test
Breast cancer, early-onset1 test
Breast cancer, familial male1 test
Breast cancer, susceptibility to4 tests
Breast milk jaundice1 test
Breast neoplasm1 test
Breast-ovarian cancer, familial, susceptibility to, 15 tests
Breast-ovarian cancer, familial, susceptibility to, 24 tests
Breast-ovarian cancer, familial, susceptibility to, 35 tests
Breast-ovarian cancer, familial, susceptibility to, 43 tests
Breasts and/or nipples, aplasia or hypoplasia of, 21 test
Brittle cornea syndrome 14 tests
Brittle cornea syndrome 22 tests
Brody myopathy5 tests
Bronchiectasis with or without elevated sweat chloride 13 tests
Bronchiectasis with or without elevated sweat chloride 25 tests
Bronchiectasis with or without elevated sweat chloride 33 tests
Brooke-Spiegler syndrome3 tests
Brown-Vialetto-van Laere syndrome 17 tests
Brown-Vialetto-van Laere syndrome 28 tests
Bruck syndrome 17 tests
Bruck syndrome 28 tests
Brugada syndrome3 tests
Brugada syndrome 11 test
Brugada syndrome 22 tests
Brugada syndrome 35 tests
Brugada syndrome 47 tests
Brugada syndrome 51 test
Brugada syndrome 65 tests
Brugada syndrome 72 tests
Brugada syndrome 82 tests
Brunner syndrome5 tests
Budd-Chiari syndrome5 tests
Bullous ichthyosiform erythroderma4 tests
Burkitt lymphoma1 test
C syndrome3 tests
C1 inhibitor deficiency2 tests
C1Q deficiency2 tests
C3 glomerulonephritis1 test
CANCER, ALOPECIA, PIGMENT DYSCRASIA, ONYCHODYSTROPHY, AND KERATODERMA2 tests
CARASIL syndrome1 test
CBL-related disorder1 test
CCDC115-CDG2 tests
CEDNIK syndrome7 tests
CFHR5 deficiency1 test
CHARGE association7 tests
CHIME syndrome3 tests
CK syndrome1 test
CLOVES syndrome1 test
COACH syndrome 14 tests
COACH syndrome 29 tests
CODAS syndrome3 tests
COG1 congenital disorder of glycosylation9 tests
COG4-CDG2 tests
COG5-CDG6 tests
COG6-CGD7 tests
COG7 congenital disorder of glycosylation9 tests
COG8-CDG8 tests
CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 8, WITH OR WITHOUT HETEROTAXY2 tests
COPD, severe early onset1 test
Calvarial doughnut lesions-bone fragility syndrome1 test
Camptodactyly-arthropathy-coxa vara-pericarditis syndrome1 test
Camptomelic dysplasia6 tests
Cancer of cervix3 tests
Candidiasis, familial, 91 test
Capillary infantile hemangioma4 tests
Capillary malformation-arteriovenous malformation 14 tests
Carcinoma of colon14 tests
Carcinoma of male breast1 test
Carcinoma of pancreas9 tests
Cardiac anomalies - developmental delay - facial dysmorphism syndrome5 tests
Cardiac arrhythmia1 test
Cardiac arrhythmia, ankyrin-B-related3 tests
Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies4 tests
Cardiac valvular dysplasia, X-linked1 test
Cardiac, facial, and digital anomalies with developmental delay2 tests
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 110 tests
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 210 tests
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 37 tests
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 44 tests
Cardiofaciocutaneous syndrome 17 tests
Cardiofaciocutaneous syndrome 25 tests
Cardiofaciocutaneous syndrome 32 tests
Cardiofaciocutaneous syndrome 47 tests
Cardiomyopathy5 tests
Cardiomyopathy, dilated, 2E1 test
Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis3 tests
Cardiomyopathy, familial hypertrophic 271 test
Cardiomyopathy, familial restrictive, 11 test
Cardiomyopathy, fatal fetal, due to myocardial calcification1 test
Cardiomyopathy-hypotonia-lactic acidosis syndrome6 tests
Carney complex - trismus - pseudocamptodactyly syndrome3 tests
Carnitine acylcarnitine translocase deficiency8 tests
Carnitine palmitoyl transferase 1A deficiency7 tests
Carnitine palmitoyl transferase II deficiency, myopathic form2 tests
Carnitine palmitoyl transferase II deficiency, neonatal form10 tests
Carnitine palmitoyl transferase II deficiency, severe infantile form2 tests
Carnitine palmitoyltransferase I deficiency , muscle2 tests
Carnitine palmitoyltransferase II deficiency1 test
Carotid intimal medial thickness 11 test
Cataract2 tests
Cataract 1 multiple types3 tests
Cataract 10 multiple types2 tests
Cataract 11 multiple types3 tests
Cataract 12 multiple types2 tests
Cataract 13 with adult I phenotype1 test
Cataract 14 multiple types2 tests
Cataract 15 multiple types2 tests
Cataract 16 multiple types2 tests
Cataract 17 multiple types3 tests
Cataract 184 tests
Cataract 19 multiple types4 tests
Cataract 2, multiple types2 tests
Cataract 20 multiple types2 tests
Cataract 21 multiple types3 tests
Cataract 22 multiple types2 tests
Cataract 232 tests
Cataract 3 multiple types2 tests
Cataract 302 tests
Cataract 31 multiple types2 tests
Cataract 332 tests
Cataract 34 multiple types1 test
Cataract 362 tests
Cataract 388 tests
Cataract 39 multiple types2 tests
Cataract 4 multiple types3 tests
Cataract 403 tests
Cataract 413 tests
Cataract 421 test
Cataract 432 tests
Cataract 441 test
Cataract 451 test
Cataract 46 juvenile-onset2 tests
Cataract 5 multiple types3 tests
Cataract 6 multiple types2 tests
Cataract 9 multiple types3 tests
Cataract, autosomal dominant nuclear1 test
Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome6 tests
Catechol-o-methyltransferase deficiency1 test
Catecholaminergic polymorphic ventricular tachycardia 11 test
Catecholaminergic polymorphic ventricular tachycardia 22 tests
Catecholaminergic polymorphic ventricular tachycardia 32 tests
Catecholaminergic polymorphic ventricular tachycardia 45 tests
Catecholaminergic polymorphic ventricular tachycardia 52 tests
Catel-Manzke syndrome1 test
Cayman type cerebellar ataxia4 tests
Celiac disease, susceptibility to, 42 tests
Central core myopathy2 tests
Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease11 tests
Cerebellar ataxia type 91 test
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 17 tests
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 26 tests
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 36 tests
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 46 tests
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome6 tests
Cerebellar ataxia-hypogonadism syndrome7 tests
Cerebellar atrophy with seizures and variable developmental delay2 tests
Cerebellar atrophy, developmental delay, and seizures3 tests
Cerebral amyloid angiopathy, APP-related5 tests
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 11 test
Cerebral cavernous malformation3 tests
Cerebral cavernous malformation 11 test
Cerebral cavernous malformation 23 tests
Cerebral cavernous malformation 35 tests
Cerebral folate transport deficiency6 tests
Cerebral palsy, spastic quadriplegic, 24 tests
Cerebrofaciothoracic dysplasia5 tests
Cerebrooculofacioskeletal syndrome 16 tests
Cerebrooculofacioskeletal syndrome 21 test
Cerebrooculofacioskeletal syndrome 44 tests
Cerebroretinal microangiopathy with calcifications and cysts 110 tests
Cerebroretinal microangiopathy with calcifications and cysts 21 test
Cernunnos-XLF deficiency11 tests
Ceroid lipofuscinosis, neuronal, 4 (Kufs type)7 tests
Ceroid lipofuscinosis, neuronal, 6A8 tests
Ceroid lipofuscinosis, neuronal, 6B (Kufs type)5 tests
Char syndrome2 tests
Charcot-Marie-Tooth disease X-linked dominant 17 tests
Charcot-Marie-Tooth disease X-linked dominant 64 tests
Charcot-Marie-Tooth disease X-linked recessive 43 tests
Charcot-Marie-Tooth disease X-linked recessive 54 tests
Charcot-Marie-Tooth disease axonal type 2C2 tests
Charcot-Marie-Tooth disease axonal type 2F4 tests
Charcot-Marie-Tooth disease axonal type 2K2 tests
Charcot-Marie-Tooth disease axonal type 2L4 tests
Charcot-Marie-Tooth disease axonal type 2N2 tests
Charcot-Marie-Tooth disease axonal type 2O2 tests
Charcot-Marie-Tooth disease axonal type 2P4 tests
Charcot-Marie-Tooth disease axonal type 2Q4 tests
Charcot-Marie-Tooth disease axonal type 2S3 tests
Charcot-Marie-Tooth disease axonal type 2U1 test
Charcot-Marie-Tooth disease axonal type 2X9 tests
Charcot-Marie-Tooth disease dominant intermediate B2 tests
Charcot-Marie-Tooth disease dominant intermediate C2 tests
Charcot-Marie-Tooth disease dominant intermediate D1 test
Charcot-Marie-Tooth disease dominant intermediate E5 tests
Charcot-Marie-Tooth disease dominant intermediate F4 tests
Charcot-Marie-Tooth disease recessive intermediate A4 tests
Charcot-Marie-Tooth disease recessive intermediate B2 tests
Charcot-Marie-Tooth disease recessive intermediate D7 tests
Charcot-Marie-Tooth disease type 1B2 tests
Charcot-Marie-Tooth disease type 1C5 tests
Charcot-Marie-Tooth disease type 1D8 tests
Charcot-Marie-Tooth disease type 1E3 tests
Charcot-Marie-Tooth disease type 1F2 tests
Charcot-Marie-Tooth disease type 2A12 tests
Charcot-Marie-Tooth disease type 2A210 tests
Charcot-Marie-Tooth disease type 2B4 tests
Charcot-Marie-Tooth disease type 2B12 tests
Charcot-Marie-Tooth disease type 2B28 tests
Charcot-Marie-Tooth disease type 2D2 tests
Charcot-Marie-Tooth disease type 2E1 test
Charcot-Marie-Tooth disease type 2I1 test
Charcot-Marie-Tooth disease type 2J1 test
Charcot-Marie-Tooth disease type 2R3 tests
Charcot-Marie-Tooth disease type 4A1 test
Charcot-Marie-Tooth disease type 4B14 tests
Charcot-Marie-Tooth disease type 4B25 tests
Charcot-Marie-Tooth disease type 4B34 tests
Charcot-Marie-Tooth disease type 4C5 tests
Charcot-Marie-Tooth disease type 4D4 tests
Charcot-Marie-Tooth disease type 4E4 tests
Charcot-Marie-Tooth disease type 4F3 tests
Charcot-Marie-Tooth disease type 4G3 tests
Charcot-Marie-Tooth disease type 4H4 tests
Charcot-Marie-Tooth disease type 4J2 tests
Charcot-Marie-Tooth disease type 4K3 tests
Charcot-Marie-Tooth disease, demyelinating, IIA 1I8 tests
Charcot-Marie-Tooth disease, type IA9 tests
Charcot-marie-tooth disease, axonal, type 2DD2 tests
Charlevoix-Saguenay spastic ataxia7 tests
Child syndrome9 tests
Childhood apraxia of speech3 tests
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency8 tests
Childhood hypophosphatasia3 tests
Childhood onset GLUT1 deficiency syndrome 24 tests
Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder3 tests
Chitayat syndrome1 test
Chloramphenicol toxicity1 test
Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome1 test
Cholestanol storage disease13 tests
Cholestasis, infantile, NR1H4 related1 test
Cholestasis, intrahepatic, of pregnancy, 11 test
Cholestasis, intrahepatic, of pregnancy, 33 tests
Cholestasis, progressive familial intrahepatic, 46 tests
Cholestasis, progressive familial intrahepatic, 52 tests
Cholestasis-pigmentary retinopathy-cleft palate syndrome6 tests
Chondrocalcinosis 21 test
Chondrodysplasia punctata 2 X-linked dominant5 tests
Chondrodysplasia with joint dislocations, gPAPP type1 test
Chondrosarcoma1 test
Chorea-acanthocytosis4 tests
Choreoathetosis1 test
Choroid plexus papilloma1 test
Choroidal dystrophy, central areolar 21 test
Choroidal dystrophy, central areolar, 13 tests
Choroideremia4 tests
Christianson syndrome12 tests
Chromosome 15q13.3 microdeletion syndrome2 tests
Chromosome 1p32-p31 deletion syndrome2 tests
Chromosome 2q32-q33 deletion syndrome5 tests
Chromosome 2q37 deletion syndrome1 test
Chromosome 5q deletion syndrome2 tests
Chromosome Xp11.22 duplication syndrome2 tests
Chronic myelogenous leukemia, BCR-ABL1 positive1 test
Chronic obstructive pulmonary disease2 tests
Chudley-McCullough syndrome6 tests
Chuvash polycythemia4 tests
Chylomicron retention disease8 tests
Chédiak-Higashi syndrome12 tests
Ciliary dyskinesia, primary, 36, X-linked2 tests
Ciliary dyskinesia, primary, 372 tests
Ciliary dyskinesia, primary, 382 tests
Ciliary dyskinesia, primary, 391 test
Ciliary dyskinesia, primary, 402 tests
Ciliary dyskinesia, primary, 421 test
Ciliary dyskinesia, primary, 431 test
Ciliary dyskinesia, primary, 443 tests
Ciliary dyskinesia, primary, 451 test
Cirrhosis, familial2 tests
Citrin deficiency1 test
Citrullinemia type I7 tests
Citrullinemia, type II, adult-onset8 tests
Clark-Baraitser syndrome2 tests
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency2 tests
Classic homocystinuria10 tests
Cleft lip/palate-ectodermal dysplasia syndrome7 tests
Cleft palate with or without ankyloglossia, X-linked1 test
Cleidocranial dysostosis3 tests
Clubfoot3 tests
Coarctation of aorta1 test
Cobalamin C disease8 tests
Cobblestone lissencephaly without muscular or ocular involvement5 tests
Cockayne syndrome type 11 test
Coenzyme Q10 deficiency, primary, 18 tests
Coenzyme Q10 deficiency, primary, 312 tests
Coffin-Lowry syndrome4 tests
Coffin-Siris syndrome 16 tests
Coffin-Siris syndrome 62 tests
Coffin-Siris syndrome 73 tests
Coffin-Siris syndrome 83 tests
Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome4 tests
Cohen syndrome9 tests
Colchicine resistance1 test
Cold-induced sweating syndrome 12 tests
Cole-Carpenter syndrome 14 tests
Cole-Carpenter syndrome 22 tests
Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness6 tests
Colobomatous microphthalmia-rhizomelic dysplasia syndrome2 tests
Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome2 tests
Colorectal cancer6 tests
Colorectal cancer, hereditary nonpolyposis, type 25 tests
Colorectal cancer, hereditary nonpolyposis, type 43 tests
Colorectal cancer, hereditary nonpolyposis, type 53 tests
Colorectal cancer, hereditary nonpolyposis, type 61 test
Colorectal cancer, hereditary nonpolyposis, type 71 test
Colorectal cancer, hereditary nonpolyposis, type 83 tests
Colorectal cancer, susceptibility to, 102 tests
Colorectal cancer, susceptibility to, 122 tests
Colton Blood group system1 test
Combined deficiency of sialidase AND beta galactosidase7 tests
Combined immunodeficiency due to CD3gamma deficiency5 tests
Combined immunodeficiency due to DOCK8 deficiency7 tests
Combined immunodeficiency due to GINS1 deficiency1 test
Combined immunodeficiency due to LRBA deficiency7 tests
Combined immunodeficiency due to MALT1 deficiency5 tests
Combined immunodeficiency due to ORAI1 deficiency3 tests
Combined immunodeficiency due to STIM1 deficiency10 tests
Combined immunodeficiency due to STK4 deficiency1 test
Combined immunodeficiency due to ZAP70 deficiency7 tests
Combined immunodeficiency due to moesin deficiency1 test
Combined immunodeficiency due to partial RAG1 deficiency3 tests
Combined immunodeficiency with skin granulomas5 tests
Combined immunodeficiency, X-linked9 tests
Combined malonic and methylmalonic acidemia8 tests
Combined oxidative phosphorylation defect type 119 tests
Combined oxidative phosphorylation defect type 1311 tests
Combined oxidative phosphorylation defect type 141 test
Combined oxidative phosphorylation defect type 151 test
Combined oxidative phosphorylation defect type 176 tests
Combined oxidative phosphorylation defect type 25 tests
Combined oxidative phosphorylation defect type 206 tests
Combined oxidative phosphorylation defect type 214 tests
Combined oxidative phosphorylation defect type 237 tests
Combined oxidative phosphorylation defect type 249 tests
Combined oxidative phosphorylation defect type 257 tests
Combined oxidative phosphorylation defect type 263 tests
Combined oxidative phosphorylation defect type 275 tests
Combined oxidative phosphorylation defect type 304 tests
Combined oxidative phosphorylation defect type 47 tests
Combined oxidative phosphorylation defect type 79 tests
Combined oxidative phosphorylation defect type 84 tests
Combined oxidative phosphorylation defect type 95 tests
Combined oxidative phosphorylation deficiency 191 test
Combined oxidative phosphorylation deficiency 223 tests
Combined oxidative phosphorylation deficiency 285 tests
Combined oxidative phosphorylation deficiency 322 tests
Combined oxidative phosphorylation deficiency 332 tests
Combined oxidative phosphorylation deficiency 354 tests
Combined oxidative phosphorylation deficiency 362 tests
Combined oxidative phosphorylation deficiency 396 tests
Combined oxidative phosphorylation deficiency 447 tests
Combined pituitary hormone deficiencies, genetic form1 test
Complement component 2 deficiency2 tests
Complement component 3 deficiency1 test
Complement component 5 deficiency1 test
Complement component 6 deficiency1 test
Complement component 7 deficiency1 test
Complement component 9 deficiency1 test
Complement factor b deficiency1 test
Complete trisomy 21 syndrome8 tests
Complex cortical dysplasia with other brain malformations 11 test
Complex cortical dysplasia with other brain malformations 23 tests
Complex cortical dysplasia with other brain malformations 33 tests
Complex cortical dysplasia with other brain malformations 43 tests
Complex cortical dysplasia with other brain malformations 54 tests
Complex cortical dysplasia with other brain malformations 61 test
Complex cortical dysplasia with other brain malformations 75 tests
Complex lethal osteochondrodysplasia1 test
Compton-North congenital myopathy3 tests
Cone dystrophy 32 tests
Cone dystrophy 42 tests
Cone dystrophy with supernormal rod response2 tests
Cone monochromatism1 test
Cone-rod dystrophy 101 test
Cone-rod dystrophy 111 test
Cone-rod dystrophy 121 test
Cone-rod dystrophy 131 test
Cone-rod dystrophy 152 tests
Cone-rod dystrophy 161 test
Cone-rod dystrophy 181 test
Cone-rod dystrophy 191 test
Cone-rod dystrophy 25 tests
Cone-rod dystrophy 202 tests
Cone-rod dystrophy 211 test
Cone-rod dystrophy 31 test
Cone-rod dystrophy 53 tests
Cone-rod dystrophy 74 tests
Cone-rod dystrophy 92 tests
Cone-rod dystrophy and hearing loss 11 test
Cone-rod synaptic disorder, congenital nonprogressive5 tests
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency1 test
Congenital adrenal hypoplasia, X-linked3 tests
Congenital adrenal insuffiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency3 tests
Congenital afibrinogenemia6 tests
Congenital amegakaryocytic thrombocytopenia1 test
Congenital aneurysm of ascending aorta4 tests
Congenital anomalies of kidney and urinary tract 16 tests
Congenital anomalies of kidney and urinary tract 22 tests
Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay4 tests
Congenital bilateral aplasia of vas deferens from CFTR mutation2 tests
Congenital bile acid synthesis defect 15 tests
Congenital bile acid synthesis defect 26 tests
Congenital bile acid synthesis defect 38 tests
Congenital bile acid synthesis defect 41 test
Congenital bile acid synthesis defect 54 tests
Congenital brain dysgenesis due to glutamine synthetase deficiency4 tests
Congenital cataract-hearing loss-severe developmental delay syndrome6 tests
Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome2 tests
Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome8 tests
Congenital cataracts-facial dysmorphism-neuropathy syndrome7 tests
Congenital central hypoventilation18 tests
Congenital contractural arachnodactyly2 tests
Congenital defect of folate absorption3 tests
Congenital diarrhea 5 with tufting enteropathy2 tests
Congenital diarrhea 62 tests
Congenital disorder of deglycosylation 16 tests
Congenital disorder of glycosylation type 1C6 tests
Congenital disorder of glycosylation type 1E8 tests
Congenital disorder of glycosylation type Ir5 tests
Congenital disorder of glycosylation with defective fucosylation 12 tests
Congenital disorder of glycosylation, type IAA2 tests
Congenital disorder of glycosylation, type IIr3 tests
Congenital dyserythropoietic anemia type 42 tests
Congenital dyserythropoietic anemia type type 1B3 tests
Congenital dyserythropoietic anemia, type I3 tests
Congenital dyserythropoietic anemia, type II1 test
Congenital factor VII deficiency2 tests
Congenital fibrosis of extraocular muscles type 12 tests
Congenital generalized lipodystrophy type 13 tests
Congenital generalized lipodystrophy type 21 test
Congenital generalized lipodystrophy type 36 tests
Congenital generalized lipodystrophy type 45 tests
Congenital glucose-galactose malabsorption1 test
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder1 test
Congenital heart defects, multiple types, 21 test
Congenital heart defects, multiple types, 42 tests
Congenital heart defects, multiple types, 51 test
Congenital heart defects, multiple types, 64 tests
Congenital hereditary endothelial dystrophy of cornea1 test
Congenital hyperammonemia, type I3 tests
Congenital hypotonia, epilepsy, developmental delay, and digital anomalies3 tests
Congenital hypotrichosis with juvenile macular dystrophy1 test
Congenital ichthyosis of skin1 test
Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome1 test
Congenital insensitivity to pain-hypohidrosis syndrome1 test
Congenital isolated adrenocorticotropic hormone deficiency4 tests
Congenital lactase deficiency4 tests
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type11 tests
Congenital lipoid adrenal hyperplasia due to STAR deficency7 tests
Congenital malabsorptive diarrhea 45 tests
Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome5 tests
Congenital microvillous atrophy2 tests
Congenital multicore myopathy with external ophthalmoplegia7 tests
Congenital muscular dystrophy due to integrin alpha-7 deficiency5 tests
Congenital muscular dystrophy with intellectual disability and severe epilepsy7 tests
Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome3 tests
Congenital muscular hypertrophy-cerebral syndrome4 tests
Congenital myasthenic syndrome1 test
Congenital myasthenic syndrome 106 tests
Congenital myasthenic syndrome 115 tests
Congenital myasthenic syndrome 128 tests
Congenital myasthenic syndrome 146 tests
Congenital myasthenic syndrome 161 test
Congenital myasthenic syndrome 182 tests
Congenital myasthenic syndrome 193 tests
Congenital myasthenic syndrome 203 tests
Congenital myasthenic syndrome 213 tests
Congenital myasthenic syndrome 2C5 tests
Congenital myasthenic syndrome 3C5 tests
Congenital myasthenic syndrome 4B5 tests
Congenital myasthenic syndrome 4C5 tests
Congenital myasthenic syndrome 56 tests
Congenital myasthenic syndrome 73 tests
Congenital myasthenic syndrome 85 tests
Congenital myopathy with fiber type disproportion8 tests
Congenital myopathy with internal nuclei and atypical cores5 tests
Congenital myopathy with reduced type 2 muscle fibers2 tests
Congenital myotonia, autosomal dominant form3 tests
Congenital myotonia, autosomal recessive form3 tests
Congenital nephrotic syndrome - interstitial lung disease - epidermolysis bullosa syndrome6 tests
Congenital neutropenia-myelofibrosis-nephromegaly syndrome3 tests
Congenital nongoitrous hypothryoidism 67 tests
Congenital nonprogressive myopathy with Moebius and Robin sequences2 tests
Congenital plasminogen activator inhibitor type 1 deficiency2 tests
Congenital prothrombin deficiency2 tests
Congenital reticular ichthyosiform erythroderma1 test
Congenital secretory diarrhea, chloride type4 tests
Congenital secretory sodium diarrhea 33 tests
Congenital sensory neuropathy with selective loss of small myelinated fibers4 tests
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome9 tests
Congenital stationary night blindness 1A1 test
Congenital stationary night blindness 1B1 test
Congenital stationary night blindness 1C3 tests
Congenital stationary night blindness 1E1 test
Congenital stationary night blindness 2A1 test
Congenital stationary night blindness autosomal dominant 15 tests
Congenital stationary night blindness autosomal dominant 22 tests
Congenital stationary night blindness autosomal dominant 31 test
Congenital vertical talus3 tests
Conotruncal heart malformations7 tests
Constitutional megaloblastic anemia with severe neurologic disease3 tests
Corneal dystrophy, Fuchs endothelial, 34 tests
Cornelia de Lange syndrome 110 tests
Cornelia de Lange syndrome 35 tests
Cornelia de Lange syndrome 44 tests
Cornelia de Lange syndrome 54 tests
Coronary heart disease, susceptibility to, 62 tests
Corpus callosum agenesis-abnormal genitalia syndrome6 tests
Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome3 tests
Corpus callosum, agenesis of3 tests
Cortical dysplasia, complex, with other brain malformations 93 tests
Cortical dysplasia-focal epilepsy syndrome2 tests
Corticosterone 18-monooxygenase deficiency7 tests
Corticosterone methyloxidase type 2 deficiency2 tests
Cortisone reductase deficiency 11 test
Cortisone reductase deficiency 23 tests
Costello syndrome12 tests
Cowden syndrome 12 tests
Cowden syndrome 61 test
Cowden syndrome 73 tests
Cranioectodermal dysplasia 13 tests
Craniofacial anomalies and anterior segment dysgenesis syndrome1 test
Craniofacial dysplasia - osteopenia syndrome3 tests
Craniofacial-deafness-hand syndrome2 tests
Craniofrontonasal syndrome1 test
Craniometadiaphyseal dysplasia wormian bone type1 test
Craniometaphyseal dysplasia, autosomal dominant5 tests
Craniosynostosis 23 tests
Craniosynostosis 41 test
Craniosynostosis 5, susceptibility to1 test
Craniosynostosis 63 tests
Craniosynostosis and dental anomalies1 test
Creatine transporter deficiency7 tests
Crigler-Najjar syndrome2 tests
Crigler-Najjar syndrome, type II2 tests
Crouzon syndrome2 tests
Crouzon syndrome-acanthosis nigricans syndrome1 test
Cryohydrocytosis2 tests
Cryptosporidiosis-chronic cholangitis-liver disease syndrome4 tests
Curly hair, ankyloblepharon, nail dysplasia syndrome1 test
Currarino triad1 test
Curry-Hall syndrome7 tests
Cushing syndrome2 tests
Cutaneous mastocytosis4 tests
Cutaneous porphyria6 tests
Cutis laxa - Marfanoid syndrome1 test
Cutis laxa with osteodystrophy2 tests
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies3 tests
Cutis laxa, X-linked4 tests
Cutis laxa, autosomal dominant 13 tests
Cutis laxa, autosomal dominant 29 tests
Cutis laxa, autosomal recessive, type 1A3 tests
Cutis laxa, autosomal recessive, type 1B10 tests
Cyanosis, transient neonatal1 test
Cyclical neutropenia2 tests
Cystathioninuria2 tests
Cystic fibrosis10 tests
Cystic leukoencephalopathy without megalencephaly6 tests
Cystinosis, atypical nephropathic1 test
Cystinuria8 tests
Cytochrome c oxidase i deficiency1 test
Cytochrome-c oxidase deficiency disease11 tests
Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder1 test
D,L-2-hydroxyglutaric aciduria5 tests
D-2-hydroxyglutaric aciduria 18 tests
D-2-hydroxyglutaric aciduria 22 tests
D-Glyceric aciduria6 tests
DEGCAGS SYNDROME3 tests
DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES2 tests
DK1-CDG11 tests
DNA ligase IV deficiency7 tests
DOCK2 deficiency1 test
DPAGT1-CDG9 tests
DPM3-CDG1 test
DYRK1A-related intellectual disability syndrome6 tests
Dalmatian hypouricemia2 tests
Dandy-walker malformation with occipital cephalocele, autosomal dominant1 test
Danon disease13 tests
De Lange syndrome1 test
Deafness dystonia syndrome12 tests
Deafness with labyrinthine aplasia, microtia, and microdontia2 tests
Deafness, X-linked 52 tests
Deafness, autosomal dominant 821 test
Deafness, digenic, GJB2/GJB31 test
Deafness-encephaloneuropathy-obesity-valvulopathy syndrome10 tests
Deafness-intellectual disability, Martin-Probst type syndrome2 tests
Deafness-lymphedema-leukemia syndrome1 test
Deficiency of 2-methylbutyryl-CoA dehydrogenase7 tests
Deficiency of 3-hydroxyacyl-CoA dehydrogenase5 tests
Deficiency of N-acetylglucosamine-1-phosphotransferase1 test
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase8 tests
Deficiency of acetyl-CoA acetyltransferase7 tests
Deficiency of alpha-mannosidase8 tests
Deficiency of aromatic-L-amino-acid decarboxylase7 tests
Deficiency of beta-ureidopropionase6 tests
Deficiency of butyryl-CoA dehydrogenase8 tests
Deficiency of butyrylcholinesterase1 test
Deficiency of cytochrome-b5 reductase5 tests
Deficiency of ferroxidase10 tests
Deficiency of galactokinase7 tests
Deficiency of glycerol kinase8 tests
Deficiency of guanidinoacetate methyltransferase9 tests
Deficiency of hyaluronoglucosaminidase3 tests
Deficiency of hydroxymethylglutaryl-CoA lyase12 tests
Deficiency of iodide peroxidase6 tests
Deficiency of isobutyryl-CoA dehydrogenase7 tests
Deficiency of malonyl-CoA decarboxylase6 tests
Deficiency of phosphoserine phosphatase5 tests
Deficiency of pyrroline-5-carboxylate reductase5 tests
Deficiency of ribose-5-phosphate isomerase4 tests
Deficiency of steroid 11-beta-monooxygenase9 tests
Deficiency of steroid 17-alpha-monooxygenase5 tests
Deficiency of transaldolase2 tests
Dehydrated hereditary stomatocytosis 21 test
Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema2 tests
Dejerine-Sottas disease8 tests
Delayed sleep phase syndrome, susceptibility to1 test
Delta-beta-thalassemia1 test
Dent disease type 212 tests
Dentinogenesis imperfecta type 22 tests
Dermatofibrosarcoma protuberans1 test
Dermatofibrosis lenticularis disseminata2 tests
Desbuquois dysplasia 11 test
Desbuquois dysplasia 21 test
Desmin-related myofibrillar myopathy2 tests
Desmoid disease, hereditary2 tests
Desmosterolosis6 tests
Developmental and epileptic encephalopathy 1013 tests
Developmental and epileptic encephalopathy 895 tests
Developmental and epileptic encephalopathy 945 tests
Developmental and epileptic encephalopathy, 12 tests
Developmental and epileptic encephalopathy, 113 tests
Developmental and epileptic encephalopathy, 125 tests
Developmental and epileptic encephalopathy, 132 tests
Developmental and epileptic encephalopathy, 143 tests
Developmental and epileptic encephalopathy, 152 tests
Developmental and epileptic encephalopathy, 171 test
Developmental and epileptic encephalopathy, 183 tests
Developmental and epileptic encephalopathy, 29 tests
Developmental and epileptic encephalopathy, 213 tests
Developmental and epileptic encephalopathy, 234 tests
Developmental and epileptic encephalopathy, 244 tests
Developmental and epileptic encephalopathy, 254 tests
Developmental and epileptic encephalopathy, 264 tests
Developmental and epileptic encephalopathy, 273 tests
Developmental and epileptic encephalopathy, 281 test
Developmental and epileptic encephalopathy, 291 test
Developmental and epileptic encephalopathy, 34 tests
Developmental and epileptic encephalopathy, 303 tests
Developmental and epileptic encephalopathy, 314 tests
Developmental and epileptic encephalopathy, 325 tests
Developmental and epileptic encephalopathy, 335 tests
Developmental and epileptic encephalopathy, 343 tests
Developmental and epileptic encephalopathy, 366 tests
Developmental and epileptic encephalopathy, 372 tests
Developmental and epileptic encephalopathy, 382 tests
Developmental and epileptic encephalopathy, 397 tests
Developmental and epileptic encephalopathy, 49 tests
Developmental and epileptic encephalopathy, 403 tests
Developmental and epileptic encephalopathy, 412 tests
Developmental and epileptic encephalopathy, 426 tests
Developmental and epileptic encephalopathy, 433 tests
Developmental and epileptic encephalopathy, 443 tests
Developmental and epileptic encephalopathy, 453 tests
Developmental and epileptic encephalopathy, 462 tests
Developmental and epileptic encephalopathy, 472 tests
Developmental and epileptic encephalopathy, 481 test
Developmental and epileptic encephalopathy, 492 tests
Developmental and epileptic encephalopathy, 57 tests
Developmental and epileptic encephalopathy, 501 test
Developmental and epileptic encephalopathy, 512 tests
Developmental and epileptic encephalopathy, 523 tests
Developmental and epileptic encephalopathy, 543 tests
Developmental and epileptic encephalopathy, 552 tests
Developmental and epileptic encephalopathy, 562 tests
Developmental and epileptic encephalopathy, 572 tests
Developmental and epileptic encephalopathy, 593 tests
Developmental and epileptic encephalopathy, 602 tests
Developmental and epileptic encephalopathy, 612 tests
Developmental and epileptic encephalopathy, 622 tests
Developmental and epileptic encephalopathy, 632 tests
Developmental and epileptic encephalopathy, 642 tests
Developmental and epileptic encephalopathy, 652 tests
Developmental and epileptic encephalopathy, 662 tests
Developmental and epileptic encephalopathy, 672 tests
Developmental and epileptic encephalopathy, 682 tests
Developmental and epileptic encephalopathy, 693 tests
Developmental and epileptic encephalopathy, 73 tests
Developmental and epileptic encephalopathy, 702 tests
Developmental and epileptic encephalopathy, 722 tests
Developmental and epileptic encephalopathy, 732 tests
Developmental and epileptic encephalopathy, 755 tests
Developmental and epileptic encephalopathy, 772 tests
Developmental and epileptic encephalopathy, 782 tests
Developmental and epileptic encephalopathy, 792 tests
Developmental and epileptic encephalopathy, 86 tests
Developmental and epileptic encephalopathy, 802 tests
Developmental and epileptic encephalopathy, 822 tests
Developmental and epileptic encephalopathy, 832 tests
Developmental and epileptic encephalopathy, 97 tests
Developmental delay and microcephaly1 test
Developmental delay with autism spectrum disorder and gait instability4 tests
Developmental delay with variable intellectual impairment and behavioral abnormalities2 tests
Developmental malformations-deafness-dystonia syndrome3 tests
Dextro-looped transposition of the great arteries 12 tests
DiGeorge syndrome3 tests
Diabetes insipidus, nephrogenic, X-linked5 tests
Diabetes insipidus, nephrogenic, autosomal3 tests
Diabetes mellitus type 11 test
Diabetes mellitus, permanent neonatal 21 test
Diabetes mellitus, permanent neonatal 36 tests
Diabetes mellitus, permanent neonatal 43 tests
Diabetes mellitus, transient neonatal, 13 tests
Diabetes mellitus, transient neonatal, 34 tests
Diamond-Blackfan anemia 15 tests
Diamond-Blackfan anemia 102 tests
Diamond-Blackfan anemia 111 test
Diamond-Blackfan anemia 123 tests
Diamond-Blackfan anemia 132 tests
Diamond-Blackfan anemia 14 with mandibulofacial dysostosis2 tests
Diamond-Blackfan anemia 15 with mandibulofacial dysostosis2 tests
Diamond-Blackfan anemia 32 tests
Diamond-Blackfan anemia 41 test
Diamond-Blackfan anemia 54 tests
Diamond-Blackfan anemia 62 tests
Diamond-Blackfan anemia 72 tests
Diamond-Blackfan anemia 82 tests
Diamond-Blackfan anemia 92 tests
Diaphragmatic hernia 32 tests
Diaphyseal dysplasia1 test
Diaphyseal medullary stenosis-bone malignancy syndrome2 tests
Dias-Logan syndrome4 tests
Diastrophic dysplasia2 tests
Dicarboxylic aminoaciduria2 tests
Diencephalic-mesencephalic junction dysplasia syndrome 12 tests
Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome9 tests
Diffuse nonepidermolytic palmoplantar keratoderma1 test
Dihydropteridine reductase deficiency8 tests
Dihydropyrimidinase deficiency3 tests
Dihydropyrimidine dehydrogenase deficiency6 tests
Dilated cardiomyopathy 1A2 tests
Dilated cardiomyopathy 1AA1 test
Dilated cardiomyopathy 1BB1 test
Dilated cardiomyopathy 1C7 tests
Dilated cardiomyopathy 1CC3 tests
Dilated cardiomyopathy 1D1 test
Dilated cardiomyopathy 1DD2 tests
Dilated cardiomyopathy 1E1 test
Dilated cardiomyopathy 1EE1 test
Dilated cardiomyopathy 1G2 tests
Dilated cardiomyopathy 1GG1 test
Dilated cardiomyopathy 1HH1 test
Dilated cardiomyopathy 1I1 test
Dilated cardiomyopathy 1J6 tests
Dilated cardiomyopathy 1JJ1 test
Dilated cardiomyopathy 1KK1 test
Dilated cardiomyopathy 1L4 tests
Dilated cardiomyopathy 1M1 test
Dilated cardiomyopathy 1NN6 tests
Dilated cardiomyopathy 1O1 test
Dilated cardiomyopathy 1P1 test
Dilated cardiomyopathy 1R2 tests
Dilated cardiomyopathy 1S1 test
Dilated cardiomyopathy 1T1 test
Dilated cardiomyopathy 1U3 tests
Dilated cardiomyopathy 1V5 tests
Dilated cardiomyopathy 1W1 test
Dilated cardiomyopathy 1X3 tests
Dilated cardiomyopathy 1Y1 test
Dilated cardiomyopathy 1Z1 test
Dilated cardiomyopathy 2A2 tests
Dilated cardiomyopathy 2B1 test
Dilated cardiomyopathy 3B1 test
Dimethylglycine dehydrogenase deficiency3 tests
Disorder of fatty acid metabolism1 test
Disorder of the urea cycle metabolism1 test
Distal arthrogryposis type 2B16 tests
Distal arthrogryposis type 5D4 tests
Distal monosomy 10p1 test
Distal myopathy with anterior tibial onset2 tests
Distal myopathy with posterior leg and anterior hand involvement2 tests
Distal myopathy, Tateyama type5 tests
Dominant beta-thalassemia2 tests
Dominant dystrophic epidermolysis bullosa with absence of skin3 tests
Donnai-Barrow syndrome5 tests
Dopa-responsive dystonia due to sepiapterin reductase deficiency10 tests
Dopamine beta-hydroxylase deficiency1 test
Dowling-Degos disease 12 tests
Doyne honeycomb retinal dystrophy2 tests
Drash syndrome3 tests
Duane syndrome type 11 test
Duane-radial ray syndrome8 tests
Dubin-Johnson syndrome6 tests
Duchenne muscular dystrophy1 test
Dyggve-Melchior-Clausen syndrome2 tests
Dyskeratosis congenita, X-linked12 tests
Dyskeratosis congenita, autosomal dominant 12 tests
Dyskeratosis congenita, autosomal dominant 24 tests
Dyskeratosis congenita, autosomal dominant 39 tests
Dyskeratosis congenita, autosomal dominant 63 tests
Dyskeratosis congenita, autosomal recessive 16 tests
Dyskeratosis congenita, autosomal recessive 24 tests
Dyskeratosis congenita, autosomal recessive 33 tests
Dyskeratosis congenita, autosomal recessive 55 tests
Dyskeratosis congenita, autosomal recessive 66 tests
Dyskinesia with orofacial involvement, autosomal dominant3 tests
Dyskinesia with orofacial involvement, autosomal recessive2 tests
Dystonia 123 tests
Dystonia 165 tests
Dystonia 233 tests
Dystonia 243 tests
Dystonia 253 tests
Dystonia 28, childhood-onset1 test
Dystonia 323 tests
Dystonia 55 tests
Dystonia 911 tests
Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities8 tests
EAST syndrome14 tests
EEM syndrome1 test
EGFR-related lung cancer1 test
EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 11 test
EPIDERMOLYSIS BULLOSA, JUNCTIONAL 6, WITH PYLORIC ATRESIA2 tests
Early myoclonic encephalopathy2 tests
Early-onset Parkinson disease 207 tests
Early-onset autosomal dominant Alzheimer disease3 tests
Early-onset generalized limb-onset dystonia2 tests
Early-onset myopathy with fatal cardiomyopathy5 tests
Early-onset parkinsonism-intellectual disability syndrome3 tests
Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome2 tests
Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome5 tests
Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive2 tests
Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive1 test
Ectodermal dysplasia 4, hair/nail type2 tests
Ectodermal dysplasia 7, hair/nail type1 test
Ectodermal dysplasia 8, hair/tooth/nail type1 test
Ectodermal dysplasia and immunodeficiency 11 test
Ectodermal dysplasia and immunodeficiency 21 test
Ectopia lentis 1, isolated, autosomal dominant10 tests
Ectopia lentis et pupillae2 tests
Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 32 tests
Eculizumab, poor response to1 test
Efavirenz response1 test
Ehlers-Danlos syndrome due to tenascin-X deficiency2 tests
Ehlers-Danlos syndrome type 7A1 test
Ehlers-Danlos syndrome type 7B2 tests
Ehlers-Danlos syndrome, arthrochalasis type2 tests
Ehlers-Danlos syndrome, cardiac valvular type2 tests
Ehlers-Danlos syndrome, classic type5 tests
Ehlers-Danlos syndrome, classic type, 13 tests
Ehlers-Danlos syndrome, classic type, 24 tests
Ehlers-Danlos syndrome, classic-like, 22 tests
Ehlers-Danlos syndrome, dermatosparaxis type3 tests
Ehlers-Danlos syndrome, kyphoscoliotic and deafness type6 tests
Ehlers-Danlos syndrome, kyphoscoliotic type 16 tests
Ehlers-Danlos syndrome, musculocontractural type 15 tests
Ehlers-Danlos syndrome, musculocontractural type 23 tests
Ehlers-Danlos syndrome, periodontal type 14 tests
Ehlers-Danlos syndrome, periodontal type 23 tests
Ehlers-Danlos syndrome, spondylocheirodysplastic type2 tests
Ehlers-Danlos syndrome, spondylodysplastic type, 13 tests
Ehlers-Danlos syndrome, spondylodysplastic type, 21 test
Ehlers-Danlos syndrome, type 33 tests
Ehlers-Danlos syndrome, type 43 tests
Eichsfeld type congenital muscular dystrophy2 tests
Elevated circulating creatine kinase concentration2 tests
Elliptocytosis 11 test
Elliptocytosis 22 tests
Elliptocytosis 33 tests
Ellis-van Creveld syndrome9 tests
Elsahy-Waters syndrome2 tests
Emery-Dreifuss muscular dystrophy1 test
Emery-Dreifuss muscular dystrophy 4, autosomal dominant2 tests
Emery-Dreifuss muscular dystrophy 5, autosomal dominant5 tests
Emery-Dreifuss muscular dystrophy 61 test
Emery-Dreifuss muscular dystrophy 7, autosomal dominant3 tests
Encephalomyopathy, mitochondrial, due to voltage-dependent anion channel deficiency1 test
Encephalopathy1 test
Encephalopathy due to GLUT1 deficiency3 tests
Encephalopathy due to defective mitochondrial and peroxisomal fission 25 tests
Encephalopathy due to prosaposin deficiency3 tests
Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 84 tests
Encephalopathy, acute, infection-induced, susceptibility to, 42 tests
Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 19 tests
Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities3 tests
Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 14 tests
Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome13 tests
Endocrine-cerebro-osteodysplasia syndrome1 test
Endometrial carcinoma7 tests
Enterokinase deficiency1 test
Epidermal nevus10 tests
Epidermodysplasia verruciformis, susceptibility to, 21 test
Epidermolysis bullosa2 tests
Epidermolysis bullosa pruriginosa3 tests
Epidermolysis bullosa simplex 1A, generalized severe4 tests
Epidermolysis bullosa simplex 1C, localized4 tests
Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive4 tests
Epidermolysis bullosa simplex 2d, generalized, intermediate or severe, autosomal recessive4 tests
Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency5 tests
Epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive2 tests
Epidermolysis bullosa simplex 5B, with muscular dystrophy5 tests
Epidermolysis bullosa simplex 5C, with pyloric atresia3 tests
Epidermolysis bullosa simplex due to plakophilin deficiency2 tests
Epidermolysis bullosa simplex with migratory circinate erythema3 tests
Epidermolysis bullosa simplex with mottled pigmentation5 tests
Epidermolysis bullosa simplex with nail dystrophy3 tests
Epidermolysis bullosa simplex, Koebner type4 tests
Epidermolysis bullosa simplex, Ogna type3 tests
Epidermolysis bullosa, junctional 2A, intermediate4 tests
Epidermolysis bullosa, junctional 3A, intermediate4 tests
Epidermolysis bullosa, junctional 4, intermediate2 tests
Epidermolytic palmoplantar keratoderma2 tests
Epilepsy, childhood absence 22 tests
Epilepsy, childhood absence 41 test
Epilepsy, childhood absence, JRK related1 test
Epilepsy, childhood absence, susceptibility to, 52 tests
Epilepsy, childhood absence, susceptibility to, 64 tests
Epilepsy, early-onset, vitamin B6-dependent2 tests
Epilepsy, early-onset, with or without developmental delay2 tests
Epilepsy, familial focal, with variable foci 15 tests
Epilepsy, familial focal, with variable foci 22 tests
Epilepsy, familial focal, with variable foci 32 tests
Epilepsy, familial temporal lobe, 14 tests
Epilepsy, focal, SCN3A related1 test
Epilepsy, idiopathic generalized, susceptibility to, 104 tests
Epilepsy, idiopathic generalized, susceptibility to, 111 test
Epilepsy, idiopathic generalized, susceptibility to, 123 tests
Epilepsy, idiopathic generalized, susceptibility to, 133 tests
Epilepsy, idiopathic generalized, susceptibility to, 152 tests
Epilepsy, idiopathic generalized, susceptibility to, 181 test
Epilepsy, idiopathic generalized, susceptibility to, 82 tests
Epilepsy, juvenile absence, susceptibility to, 12 tests
Epilepsy, juvenile myoclonic, susceptibility to, 104 tests
Epilepsy, progressive myoclonic 2b1 test
Epilepsy, progressive myoclonic 52 tests
Epilepsy, progressive myoclonic, 112 tests
Epilepsy, progressive myoclonic, 1B6 tests
Epileptic encephalopathy, infantile or early childhood, 23 tests
Epiphyseal dysplasia, multiple, 24 tests
Epiphyseal dysplasia, multiple, 36 tests
Epiphyseal dysplasia, multiple, 75 tests
Episodic ataxia type 19 tests
Episodic ataxia type 22 tests
Episodic ataxia type 56 tests
Episodic ataxia type 65 tests
Episodic ataxia, type 96 tests
Episodic kinesigenic dyskinesia 12 tests
Episodic pain syndrome, familial, 24 tests
Epithelial recurrent erosion dystrophy2 tests
Epsilon-trimethyllysine hydroxylase deficiency4 tests
Erythrocyte AMP deaminase deficiency1 test
Erythrocytosis, familial, 31 test
Erythrocytosis, familial, 41 test
Erythrokeratodermia variabilis et progressiva 12 tests
Erythrokeratodermia variabilis et progressiva 22 tests
Erythrokeratodermia variabilis et progressiva 39 tests
Erythrokeratodermia variabilis et progressiva 43 tests
Essential fructosuria2 tests
Essential hypertension1 test
Essential pentosuria1 test
Estrogen resistance syndrome1 test
Ethylmalonic encephalopathy12 tests
Ewing sarcoma2 tests
Exercise-induced hyperinsulinism3 tests
Exostoses, multiple, type 15 tests
Exostoses, multiple, type 21 test
Extraskeletal myxoid chondrosarcoma2 tests
Exudative vitreoretinopathy 12 tests
Exudative vitreoretinopathy 2, X-linked6 tests
Exudative vitreoretinopathy 45 tests
Exudative vitreoretinopathy 52 tests
Exudative vitreoretinopathy 61 test
FADD-related immunodeficiency5 tests
FETAL AKINESIA, RESPIRATORY INSUFFICIENCY, MICROCEPHALY, POLYMICROGYRIA, AND DYSMORPHIC FACIES4 tests
FG syndrome 13 tests
FG syndrome 21 test
FG syndrome 48 tests
FGFR2-related bent bone dysplasia3 tests
FRAXE4 tests
FSH releasing protein deficiency1 test
Fabry disease10 tests
Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome2 tests
Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation3 tests
Facial dysmorphism-immunodeficiency-livedo-short stature syndrome2 tests
Facial paresis, hereditary congenital, 32 tests
Facioscapulohumeral muscular dystrophy 11 test
Facioscapulohumeral muscular dystrophy 24 tests
Factor 5 and Factor VIII, combined deficiency of, 21 test
Factor H deficiency3 tests
Factor V and factor VIII, combined deficiency of, type 11 test
Factor V deficiency3 tests
Factor VII deficiency3 tests
Factor X deficiency2 tests
Factor XII deficiency disease1 test
Factor XIII, A subunit, deficiency of3 tests
Factor XIII, b subunit, deficiency of2 tests
Familial Mediterranean fever1 test
Familial Mediterranean fever, autosomal dominant1 test
Familial X-linked hypophosphatemic vitamin D refractory rickets4 tests
Familial acute necrotizing encephalopathy3 tests
Familial adenomatous polyposis 12 tests
Familial amyloid nephropathy with urticaria AND deafness5 tests
Familial apolipoprotein C-II deficiency6 tests
Familial benign flecked retina2 tests
Familial cancer of breast17 tests
Familial cold autoinflammatory syndrome 23 tests
Familial cold autoinflammatory syndrome 42 tests
Familial colorectal cancer4 tests
Familial cylindromatosis1 test
Familial digital arthropathy-brachydactyly8 tests
Familial dysautonomia2 tests
Familial dysfibrinogenemia7 tests
Familial encephalopathy with neuroserpin inclusion bodies5 tests
Familial episodic pain syndrome with predominantly lower limb involvement1 test
Familial expansile osteolysis3 tests
Familial gestational hyperthyroidism4 tests
Familial hemophagocytic lymphohistiocytosis1 test
Familial hemophagocytic lymphohistiocytosis 34 tests
Familial hemophagocytic lymphohistiocytosis 43 tests
Familial hemophagocytic lymphohistiocytosis 54 tests
Familial hemophagocytic lymphohistiocytosis type 11 test
Familial hyperaldosteronism type III1 test
Familial hyperthyroidism due to mutations in TSH receptor2 tests
Familial hypobetalipoproteinemia 12 tests
Familial hypobetalipoproteinemia 21 test
Familial hypocalciuric hypercalcemia 13 tests
Familial hypocalciuric hypercalcemia 22 tests
Familial hypocalciuric hypercalcemia 35 tests
Familial hypokalemia-hypomagnesemia7 tests
Familial hypoparathyroidism2 tests
Familial infantile bilateral striatal necrosis2 tests
Familial infantile myasthenia8 tests
Familial infantile myoclonic epilepsy2 tests
Familial isolated deficiency of vitamin E6 tests
Familial isolated dilated cardiomyopathy1 test
Familial juvenile hypertrophy of the breast1 test
Familial juvenile hyperuricemic nephropathy type 13 tests
Familial juvenile hyperuricemic nephropathy type 21 test
Familial medullary thyroid carcinoma2 tests
Familial meningioma8 tests
Familial multiple trichoepitheliomata1 test
Familial porphyria cutanea tarda3 tests
Familial prostate carcinoma2 tests
Familial pseudohyperkalemia5 tests
Familial pulmonary capillary hemangiomatosis2 tests
Familial renal glucosuria1 test
Familial retinal arterial macroaneurysm1 test
Familial scaphocephaly syndrome, McGillivray type3 tests
Familial spontaneous pneumothorax2 tests
Familial steroid-resistant nephrotic syndrome with sensorineural deafness6 tests
Familial temporal lobe epilepsy 54 tests
Familial temporal lobe epilepsy 74 tests
Familial thoracic aortic aneurysm and aortic dissection2 tests
Familial thyroid dyshormonogenesis 13 tests
Familial visceral amyloidosis, Ostertag type5 tests
Fanconi anemia complementation group A7 tests
Fanconi anemia complementation group B7 tests
Fanconi anemia complementation group C5 tests
Fanconi anemia complementation group D14 tests
Fanconi anemia complementation group D25 tests
Fanconi anemia complementation group E2 tests
Fanconi anemia complementation group F2 tests
Fanconi anemia complementation group G2 tests
Fanconi anemia complementation group I2 tests
Fanconi anemia complementation group J2 tests
Fanconi anemia complementation group L3 tests
Fanconi anemia complementation group N2 tests
Fanconi anemia complementation group P2 tests
Fanconi anemia complementation group Q3 tests
Fanconi anemia complementation group R1 test
Fanconi anemia complementation group T1 test
Fanconi anemia, complementation group M1 test
Fanconi anemia, complementation group S2 tests
Fanconi renotubular syndrome 15 tests
Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young2 tests
Fanconi renotubular syndrome 57 tests
Fanconi-Bickel syndrome2 tests
Farber lipogranulomatosis7 tests
Fasting plasma glucose level quantitative trait locus 51 test
Fatal familial insomnia1 test
Fatal infantile hypertonic myofibrillar myopathy4 tests
Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 39 tests
Febrile seizures, familial, 44 tests
Febrile seizures, familial, 82 tests
Feingold syndrome type 17 tests
Feingold syndrome type 21 test
Female infertility due to zona pellucida defect1 test
Fetal akinesia deformation sequence 16 tests
Fetal hemoglobin quantitative trait locus 14 tests
Fetal hemoglobin quantitative trait locus 64 tests
Fibrochondrogenesis 12 tests
Fibrochondrogenesis 21 test
Fibromatosis, gingival, 16 tests
Fibrosis of extraocular muscles, congenital, 22 tests
Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement5 tests
Finnish congenital nephrotic syndrome4 tests
Fish-eye disease3 tests
Floating-Harbor syndrome3 tests
Focal dermal hypoplasia4 tests
Focal segmental glomerulosclerosis1 test
Focal segmental glomerulosclerosis 15 tests
Focal segmental glomerulosclerosis 25 tests
Focal segmental glomerulosclerosis 3, susceptibility to3 tests
Focal segmental glomerulosclerosis 4, susceptibility to1 test
Focal segmental glomerulosclerosis 51 test
Focal segmental glomerulosclerosis 65 tests
Focal segmental glomerulosclerosis 72 tests
Focal segmental glomerulosclerosis 83 tests
Focal segmental glomerulosclerosis 91 test
Focal segmental glomerulosclerosis and neurodevelopmental syndrome2 tests
Follicular lymphoma, susceptibility to, 11 test
Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome3 tests
Foveal hypoplasia 18 tests
Fowler syndrome3 tests
Fragile X syndrome2 tests
Fragile X-associated tremor/ataxia syndrome3 tests
Frank-Ter Haar syndrome5 tests
Fraser syndrome 110 tests
Fraser syndrome 36 tests
Frasier syndrome2 tests
Freeman-Sheldon syndrome4 tests
Friedreich ataxia 17 tests
Frontometaphyseal dysplasia 11 test
Frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome3 tests
Frontonasal dysplasia with alopecia and genital anomaly4 tests
Frontorhiny2 tests
Frontotemporal dementia8 tests
Frontotemporal dementia and/or amyotrophic lateral sclerosis 13 tests
Frontotemporal dementia and/or amyotrophic lateral sclerosis 24 tests
Frontotemporal dementia and/or amyotrophic lateral sclerosis 33 tests
Frontotemporal dementia and/or amyotrophic lateral sclerosis 52 tests
Frontotemporal dementia and/or amyotrophic lateral sclerosis 69 tests
Frontotemporal dementia and/or amyotrophic lateral sclerosis 75 tests
Fructose uptake deficiency, SLC2A5 related1 test
Fructose-biphosphatase deficiency7 tests
Fucosidosis8 tests
Fuhrmann syndrome1 test
Fumarase deficiency4 tests
GM1 gangliosidosis2 tests
GM1 gangliosidosis type 22 tests
GM1 gangliosidosis type 36 tests
GM3 synthase deficiency6 tests
GNE myopathy5 tests
GRACILE syndrome3 tests
GTP cyclohydrolase I deficiency2 tests
GTP cyclohydrolase I deficiency with hyperphenylalaninemia6 tests
Gabriele de Vries syndrome2 tests
Galactosylceramide beta-galactosidase deficiency11 tests
Galloway-Mowat syndrome 16 tests
Galloway-Mowat syndrome 2, X-linked2 tests
Galloway-Mowat syndrome 35 tests
Galloway-Mowat syndrome 42 tests
Galloway-Mowat syndrome 52 tests
Galloway-Mowat syndrome 62 tests
Galloway-Mowat syndrome 84 tests
Gamma-aminobutyric acid transaminase deficiency9 tests
Gamma-glutamylcysteine synthetase deficiency1 test
Gangliosidosis, generalized gm1, late-infantile type1 test
Gapo syndrome1 test
Gastric lymphoma1 test
Gastrointestinal defects and immunodeficiency syndrome 12 tests
Gastrointestinal stromal tumor10 tests
Gaucher disease type I11 tests
Gaze palsy, familial horizontal, with progressive scoliosis 12 tests
Geleophysic dysplasia 16 tests
Geleophysic dysplasia 22 tests
Geleophysic dysplasia 31 test
Generalized dominant dystrophic epidermolysis bullosa4 tests
Generalized epilepsy with febrile seizures plus 31 test
Generalized epilepsy with febrile seizures plus type 51 test
Generalized epilepsy with febrile seizures plus, type 12 tests
Generalized epilepsy with febrile seizures plus, type 23 tests
Generalized epilepsy with febrile seizures plus, type 71 test
Generalized epilepsy with febrile seizures plus, type 92 tests
Generalized epilepsy-paroxysmal dyskinesia syndrome2 tests
Generalized juvenile polyposis/juvenile polyposis coli4 tests
Generalized pustular psoriasis1 test
Genetic predisposition3 tests
Genitopatellar syndrome6 tests
Geroderma osteodysplastica3 tests
Gerstmann-Straussler-Scheinker syndrome1 test
Ghosal hematodiaphyseal dysplasia2 tests
Giant axonal neuropathy 18 tests
Gilbert syndrome2 tests
Gilbert syndrome, susceptibility to1 test
Gillespie syndrome4 tests
Gillessen-Kaesbach-Nishimura syndrome6 tests
Glanzmann thrombasthenia3 tests
Glaucoma 1, open angle, A2 tests
Glaucoma 1, open angle, E1 test
Glaucoma 1, open angle, F2 tests
Glaucoma 1, open angle, G2 tests
Glaucoma 1, open angle, O3 tests
Glaucoma 3, primary congenital, D1 test
Glaucoma 3A1 test
Glioma susceptibility 17 tests
Glioma susceptibility 31 test
Glioma susceptibility 92 tests
Global developmental delay with or without impaired intellectual development2 tests
Globozoospermia1 test
Glucocorticoid deficiency 11 test
Glucocorticoid deficiency 21 test
Glucocorticoid deficiency 42 tests
Glucocorticoid deficiency with achalasia4 tests
Glucocorticoid resistance1 test
Glucocorticoid-remediable aldosteronism2 tests
Glucose-6-phosphate transport defect3 tests
Glutamate formiminotransferase deficiency1 test
Glutamate pyruvate transaminase 2 deficiency4 tests
Glutaric aciduria, type 19 tests
Glutaryl-CoA oxidase deficiency6 tests
Glutathione synthetase deficiency with 5-oxoprolinuria4 tests
Glutathione synthetase deficiency without 5-oxoprolinuria4 tests
Gluthathione peroxidase deficiency4 tests
Gluthathione synthetase deficiency3 tests
Glycine N-methyltransferase deficiency5 tests
Glycogen storage disease II, adult form1 test
Glycogen storage disease IIIb1 test
Glycogen storage disease IXa13 tests
Glycogen storage disease IXb3 tests
Glycogen storage disease IXc4 tests
Glycogen storage disease IXd4 tests
Glycogen storage disease XV4 tests
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA5 tests
Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency1 test
Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency5 tests
Glycogen storage disease due to muscle and heart glycogen synthase deficiency5 tests
Glycogen storage disease due to muscle beta-enolase deficiency5 tests
Glycogen storage disease due to phosphoglycerate kinase 1 deficiency9 tests
Glycogen storage disease type III9 tests
Glycogen storage disease type X5 tests
Glycogen storage disease, type I1 test
Glycogen storage disease, type II12 tests
Glycogen storage disease, type IV4 tests
Glycogen storage disease, type V6 tests
Glycogen storage disease, type VI4 tests
Glycogen storage disease, type VII6 tests
Glycogen storage disorder due to hepatic glycogen synthase deficiency6 tests
Glycosylphosphatidylinositol biosynthesis defect 153 tests
Glycosylphosphatidylinositol biosynthesis defect 162 tests
Glycosylphosphatidylinositol biosynthesis defect 172 tests
Glycosylphosphatidylinositol biosynthesis defect 182 tests
Glycosylphosphatidylinositol biosynthesis defect 212 tests
Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors2 tests
Goldberg-Shprintzen megacolon syndrome4 tests
Goldblatt syndrome1 test
Gorlin syndrome6 tests
Granulomatous disease, chronic, X-linked3 tests
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative2 tests
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 12 tests
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 22 tests
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 32 tests
Gray platelet syndrome2 tests
Greig cephalopolysyndactyly syndrome7 tests
Griscelli syndrome type 18 tests
Griscelli syndrome type 28 tests
Griscelli syndrome type 35 tests
Grn-related frontotemporal lobar degeneration with Tdp43 inclusions6 tests
Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome5 tests
Growth delay due to insulin-like growth factor I resistance8 tests
Growth delay due to insulin-like growth factor type 1 deficiency6 tests
Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant1 test
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive4 tests
Guillain-Barre syndrome, familial2 tests
Guttmacher syndrome1 test
H syndrome5 tests
HIATT-NEU-COOPER NEURODEVELOPMENTAL SYNDROME2 tests
HNSHA due to aldolase A deficiency10 tests
HSD10 mitochondrial disease8 tests
Haddad syndrome3 tests
Haim-Munk syndrome1 test
Hair morphology 11 test
Hajdu-Cheney syndrome10 tests
Hand-foot-genital syndrome4 tests
Harderoporphyria4 tests
Harlequin syndrome1 test
Hartsfield-Bixler-Demyer syndrome7 tests
Hawkinsinuria3 tests
Hb SS disease3 tests
Hearing loss, X-linked 13 tests
Hearing loss, X-linked 43 tests
Hearing loss, X-linked 62 tests
Hearing loss, autosomal dominant 371 test
Hearing loss, autosomal dominant 712 tests
Hearing loss, autosomal dominant 721 test
Hearing loss, autosomal dominant 752 tests
Hearing loss, autosomal dominant 811 test
Hearing loss, autosomal recessive2 tests
Hearing loss, autosomal recessive 1061 test
Hearing loss, autosomal recessive 1071 test
Hearing loss, autosomal recessive 1081 test
Hearing loss, autosomal recessive 1091 test
Hearing loss, autosomal recessive 1101 test
Hearing loss, autosomal recessive 1111 test
Hearing loss, autosomal recessive 1121 test
Hearing loss, autosomal recessive 1131 test
Hearing loss, autosomal recessive 572 tests
Heart-hand syndrome, Slovenian type7 tests
Hecht syndrome1 test
Heimler syndrome 18 tests
Heimler syndrome 28 tests
Heinz body anemia6 tests
Helicoid peripapillary chorioretinal degeneration1 test
Hemochromatosis type 11 test
Hemochromatosis type 2A2 tests
Hemochromatosis type 2B7 tests
Hemochromatosis type 37 tests
Hemochromatosis type 42 tests
Hemoglobin H disease3 tests
Hemoglobin Lepore-beta-thalassemia syndrome1 test
Hemolytic anemia due to adenylate kinase deficiency1 test
Hemolytic anemia due to glucophosphate isomerase deficiency3 tests
Hemolytic anemia due to glutathione reductase deficiency3 tests
Hemolytic anemia due to hexokinase deficiency1 test
Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency1 test
Hemolytic uremic syndrome, atypical, susceptibility to, 16 tests
Hemolytic uremic syndrome, atypical, susceptibility to, 71 test
Hennekam lymphangiectasia-lymphedema syndrome 12 tests
Hennekam lymphangiectasia-lymphedema syndrome 21 test
Heparin cofactor II deficiency1 test
Hepatic adenomas, familial3 tests
Hepatic methionine adenosyltransferase deficiency4 tests
Hepatic veno-occlusive disease-immunodeficiency syndrome1 test
Hepatitis B virus, susceptibility to1 test
Hepatitis C virus, susceptibility to6 tests
Hepatocellular carcinoma13 tests
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 111 tests
Hereditary acrodermatitis enteropathica1 test
Hereditary amyloidosis1 test
Hereditary angioedema type 14 tests
Hereditary angioedema type 33 tests
Hereditary antithrombin deficiency5 tests
Hereditary arterial and articular multiple calcification syndrome1 test
Hereditary breast ovarian cancer syndrome3 tests
Hereditary cerebral amyloid angiopathy, Icelandic type3 tests
Hereditary coproporphyria4 tests
Hereditary cryohydrocytosis with reduced stomatin2 tests
Hereditary diffuse gastric adenocarcinoma7 tests
Hereditary diffuse leukoencephalopathy with spheroids1 test
Hereditary disease3 tests
Hereditary factor II deficiency disease1 test
Hereditary factor IX deficiency disease3 tests
Hereditary factor VIII deficiency disease5 tests
Hereditary factor X deficiency disease2 tests
Hereditary factor XI deficiency disease5 tests
Hereditary fructosuria9 tests
Hereditary hearing loss and deafness1 test
Hereditary hyperferritinemia with congenital cataracts2 tests
Hereditary insensitivity to pain with anhidrosis5 tests
Hereditary intrinsic factor deficiency3 tests
Hereditary leiomyomatosis and renal cell cancer9 tests
Hereditary liability to pressure palsies3 tests
Hereditary lymphedema type I1 test
Hereditary motor and sensory neuropathy, Okinawa type2 tests
Hereditary myopathy with lactic acidosis due to ISCU deficiency6 tests
Hereditary neutrophilia3 tests
Hereditary pancreatitis8 tests
Hereditary pulmonary alveolar proteinosis2 tests
Hereditary sensory and autonomic neuropathy type 12 tests
Hereditary sensory and autonomic neuropathy type 21 test
Hereditary sensory and autonomic neuropathy type 61 test
Hereditary sensory and autonomic neuropathy with spastic paraplegia6 tests
Hereditary sensory neuropathy-deafness-dementia syndrome3 tests
Hereditary spastic paraplegia 1011 tests
Hereditary spastic paraplegia 112 tests
Hereditary spastic paraplegia 126 tests
Hereditary spastic paraplegia 136 tests
Hereditary spastic paraplegia 159 tests
Hereditary spastic paraplegia 172 tests
Hereditary spastic paraplegia 186 tests
Hereditary spastic paraplegia 210 tests
Hereditary spastic paraplegia 266 tests
Hereditary spastic paraplegia 285 tests
Hereditary spastic paraplegia 308 tests
Hereditary spastic paraplegia 312 tests
Hereditary spastic paraplegia 335 tests
Hereditary spastic paraplegia 358 tests
Hereditary spastic paraplegia 392 tests
Hereditary spastic paraplegia 3A2 tests
Hereditary spastic paraplegia 410 tests
Hereditary spastic paraplegia 425 tests
Hereditary spastic paraplegia 438 tests
Hereditary spastic paraplegia 442 tests
Hereditary spastic paraplegia 456 tests
Hereditary spastic paraplegia 466 tests
Hereditary spastic paraplegia 478 tests
Hereditary spastic paraplegia 486 tests
Hereditary spastic paraplegia 496 tests
Hereditary spastic paraplegia 5011 tests
Hereditary spastic paraplegia 517 tests
Hereditary spastic paraplegia 535 tests
Hereditary spastic paraplegia 546 tests
Hereditary spastic paraplegia 557 tests
Hereditary spastic paraplegia 567 tests
Hereditary spastic paraplegia 578 tests
Hereditary spastic paraplegia 5A3 tests
Hereditary spastic paraplegia 67 tests
Hereditary spastic paraplegia 615 tests
Hereditary spastic paraplegia 625 tests
Hereditary spastic paraplegia 632 tests
Hereditary spastic paraplegia 645 tests
Hereditary spastic paraplegia 79 tests
Hereditary spastic paraplegia 726 tests
Hereditary spastic paraplegia 736 tests
Hereditary spastic paraplegia 755 tests
Hereditary spastic paraplegia 777 tests
Hereditary spastic paraplegia 82 tests
Hereditary spastic paraplegia 9A11 tests
Hereditary spherocytosis type 15 tests
Hereditary spherocytosis type 24 tests
Hereditary spherocytosis type 36 tests
Hereditary spherocytosis type 45 tests
Hereditary spherocytosis type 56 tests
Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX13 tests
Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency1 test
Hereditary xanthinuria type 11 test
Hermansky-Pudlak syndrome 110 tests
Hermansky-Pudlak syndrome 101 test
Hermansky-Pudlak syndrome 212 tests
Hermansky-Pudlak syndrome 38 tests
Hermansky-Pudlak syndrome 410 tests
Hermansky-Pudlak syndrome 510 tests
Hermansky-Pudlak syndrome 610 tests
Hermansky-Pudlak syndrome 710 tests
Hermansky-Pudlak syndrome 89 tests
Hermansky-Pudlak syndrome 97 tests
Herpes simplex encephalitis, susceptibility to, 11 test
Herpes simplex encephalitis, susceptibility to, 21 test
Herpes simplex encephalitis, susceptibility to, 31 test
Herpes simplex encephalitis, susceptibility to, 42 tests
Herpes simplex encephalitis, susceptibility to, 71 test
Heterotaxy, visceral, 1, X-linked6 tests
Heterotaxy, visceral, 2, autosomal2 tests
Heterotaxy, visceral, 4, autosomal5 tests
Heterotaxy, visceral, 6, autosomal5 tests
Heterotaxy, visceral, 7, autosomal5 tests
Heterotaxy, visceral, 8, autosomal4 tests
Heterotopia, periventricular, X-linked dominant2 tests
Heyn-Sproul-Jackson syndrome2 tests
High myopia-sensorineural deafness syndrome1 test
Hirschsprung disease, cardiac defects, and autonomic dysfunction1 test
Hirschsprung disease, susceptibility to, 112 tests
Hirschsprung disease, susceptibility to, 34 tests
Hirschsprung disease, susceptibility to, 42 tests
Histiocytic medullary reticulosis5 tests
Holocarboxylase synthetase deficiency8 tests
Holoprosencephaly 114 tests
Holoprosencephaly 21 test
Holoprosencephaly 35 tests
Holoprosencephaly 44 tests
Holoprosencephaly 55 tests
Holoprosencephaly 91 test
Holoprosencephaly sequence2 tests
Holt-Oram syndrome9 tests
Homocystinuria due to MTHFR deficiency1 test
Homocystinuria due to methylene tetrahydrofolate reductase deficiency2 tests
Hoyeraal-Hreidarsson syndrome1 test
Human HOXA1 syndromes4 tests
Huntington disease2 tests
Huntington disease-like 13 tests
Huntington disease-like 21 test
Hurler syndrome5 tests
Hurthle cell carcinoma of thyroid1 test
Hyaline fibromatosis syndrome4 tests
Hydatidiform mole, recurrent, 11 test
Hydatidiform mole, recurrent, 21 test
Hydrocephalus, nonsyndromic, autosomal recessive 12 tests
Hydrocephalus, nonsyndromic, autosomal recessive 24 tests
Hydrolethalus syndrome 14 tests
Hydrolethalus syndrome 22 tests
Hyper-IgE recurrent infection syndrome 11 test
Hyper-IgM syndrome type 17 tests
Hyper-IgM syndrome type 25 tests
Hyper-IgM syndrome type 35 tests
Hyper-IgM syndrome type 57 tests
Hyperalphalipoproteinemia 12 tests
Hyperammonemia, type III8 tests
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency4 tests
Hypercalcemia, infantile, 13 tests
Hypercalcemia, infantile, 23 tests
Hypercholanemia, familial 14 tests
Hypercholesterolemia, autosomal dominant, 33 tests
Hypercholesterolemia, autosomal dominant, type B4 tests
Hypercholesterolemia, familial, 16 tests
Hypercholesterolemia, familial, 45 tests
Hyperekplexia1 test
Hyperekplexia 18 tests
Hyperekplexia 24 tests
Hyperekplexia 35 tests
Hyperekplexia 42 tests
Hyperimmunoglobulin D with periodic fever2 tests
Hyperinsulinemic hypoglycemia, familial, 13 tests
Hyperinsulinemic hypoglycemia, familial, 24 tests
Hyperinsulinemic hypoglycemia, familial, 47 tests
Hyperinsulinism due to INSR deficiency3 tests
Hyperinsulinism due to glucokinase deficiency3 tests
Hyperinsulinism, UCP2 related1 test
Hyperinsulinism-hyperammonemia syndrome7 tests
Hyperkalemic periodic paralysis3 tests
Hyperlipoproteinemia, type 1D2 tests
Hyperlipoproteinemia, type I4 tests
Hyperlysinemia6 tests
Hypermanganesemia with dystonia 22 tests
Hypermanganesemia with dystonia, polycythemia, and cirrhosis3 tests
Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase7 tests
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome9 tests
Hyperostosis cranialis interna1 test
Hyperphenylalaninemia due to DNAJC12 deficiency2 tests
Hyperphosphatasemia with bone disease5 tests
Hyperphosphatasia with intellectual disability syndrome 16 tests
Hyperphosphatasia with intellectual disability syndrome 24 tests
Hyperphosphatasia with intellectual disability syndrome 33 tests
Hyperphosphatasia with intellectual disability syndrome 41 test
Hyperphosphatasia with intellectual disability syndrome 52 tests
Hyperpigmentation with or without hypopigmentation, familial progressive2 tests
Hyperproinsulinemia2 tests
Hypertrichosis cubiti-short stature syndrome1 test
Hypertrichotic osteochondrodysplasia Cantu type1 test
Hypertriglyceridemia, familial3 tests
Hypertrophic cardiomyopathy 14 tests
Hypertrophic cardiomyopathy 103 tests
Hypertrophic cardiomyopathy 111 test
Hypertrophic cardiomyopathy 124 tests
Hypertrophic cardiomyopathy 131 test
Hypertrophic cardiomyopathy 151 test
Hypertrophic cardiomyopathy 162 tests
Hypertrophic cardiomyopathy 172 tests
Hypertrophic cardiomyopathy 183 tests
Hypertrophic cardiomyopathy 191 test
Hypertrophic cardiomyopathy 22 tests
Hypertrophic cardiomyopathy 255 tests
Hypertrophic cardiomyopathy 262 tests
Hypertrophic cardiomyopathy 32 tests
Hypertrophic cardiomyopathy 41 test
Hypertrophic cardiomyopathy 63 tests
Hypertrophic cardiomyopathy 71 test
Hypertrophic cardiomyopathy 82 tests
Hypertrophic cardiomyopathy 92 tests
Hypertrophic osteoarthropathy, primary, autosomal dominant1 test
Hypertrophic osteoarthropathy, primary, autosomal recessive, 14 tests
Hypertrophic osteoarthropathy, primary, autosomal recessive, 21 test
Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome5 tests
Hyperuricemic nephropathy, familial juvenile type 42 tests
Hypogonadotropic hypogonadism 1 with or without anosmia4 tests
Hypogonadotropic hypogonadism 10 with or without anosmia3 tests
Hypogonadotropic hypogonadism 11 with or without anosmia3 tests
Hypogonadotropic hypogonadism 12 with or without anosmia3 tests
Hypogonadotropic hypogonadism 13 with or without anosmia2 tests
Hypogonadotropic hypogonadism 14 with or without anosmia4 tests
Hypogonadotropic hypogonadism 15 with or without anosmia3 tests
Hypogonadotropic hypogonadism 16 with or without anosmia4 tests
Hypogonadotropic hypogonadism 17 with or without anosmia3 tests
Hypogonadotropic hypogonadism 18 with or without anosmia2 tests
Hypogonadotropic hypogonadism 19 with or without anosmia2 tests
Hypogonadotropic hypogonadism 2 with or without anosmia6 tests
Hypogonadotropic hypogonadism 20 with or without anosmia2 tests
Hypogonadotropic hypogonadism 21 with or without anosmia2 tests
Hypogonadotropic hypogonadism 22 with or without anosmia4 tests
Hypogonadotropic hypogonadism 24 without anosmia3 tests
Hypogonadotropic hypogonadism 26 with or without anosmia1 test
Hypogonadotropic hypogonadism 3 with or without anosmia3 tests
Hypogonadotropic hypogonadism 4 with or without anosmia3 tests
Hypogonadotropic hypogonadism 5 with or without anosmia12 tests
Hypogonadotropic hypogonadism 6 with or without anosmia3 tests
Hypogonadotropic hypogonadism 7 with or without anosmia6 tests
Hypogonadotropic hypogonadism 8 with or without anosmia2 tests
Hypogonadotropic hypogonadism 9 with or without anosmia3 tests
Hypohidrotic X-linked ectodermal dysplasia2 tests
Hypoinsulinemic hypoglycemia and body hemihypertrophy6 tests
Hypokalemic periodic paralysis, type 15 tests
Hypokalemic periodic paralysis, type 26 tests
Hypomagnesemia, seizures, and intellectual disability 13 tests
Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism1 test
Hypomyelinating leukodystrophy 106 tests
Hypomyelinating leukodystrophy 133 tests
Hypomyelinating leukodystrophy 22 tests
Hypomyelinating leukodystrophy 39 tests
Hypomyelinating leukodystrophy 410 tests
Hypomyelinating leukodystrophy 64 tests
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism2 tests
Hypomyelinating leukodystrophy 97 tests
Hypomyelination and Congenital Cataract7 tests
Hypomyelination with brain stem and spinal cord involvement and leg spasticity7 tests
Hypoparathyroidism, deafness, renal disease syndrome6 tests
Hypoparathyroidism-retardation-dysmorphism syndrome1 test
Hypophosphatemic nephrolithiasis/osteoporosis 11 test
Hypophosphatemic nephrolithiasis/osteoporosis 22 tests
Hypophosphatemic rickets, X-linked recessive5 tests
Hypophosphatemic rickets, autosomal recessive, 15 tests
Hypophosphatemic rickets, autosomal recessive, 25 tests
Hypopigmentation, organomegaly, and delayed myelination and development4 tests
Hypopigmentation-punctate palmoplantar keratoderma syndrome2 tests
Hypoplastic enamel-onycholysis-hypohidrosis syndrome4 tests
Hypoplastic left heart syndrome 22 tests
Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome3 tests
Hypospadias 1, X-linked1 test
Hypospadias 2, X-linked3 tests
Hypothalamic hypothyroidism1 test
Hypothyroidism due to TSH receptor mutations3 tests
Hypothyroidism, congenital, nongoitrous, 24 tests
Hypothyroidism, congenital, nongoitrous, 54 tests
Hypothyroidism, congenital, nongoitrous, 71 test
Hypothyroidism, congenital, nongoitrous, 81 test
Hypothyroidism, isolated, TRHR related1 test
Hypotonia with lactic acidemia and hyperammonemia7 tests
Hypotonia, ataxia, and delayed development syndrome4 tests
Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities2 tests
Hypotonia, infantile, with psychomotor retardation and characteristic facies 16 tests
Hypotonia, infantile, with psychomotor retardation and characteristic facies 25 tests
Hypotonia, infantile, with psychomotor retardation and characteristic facies 33 tests
Hypotonia-cystinuria syndrome2 tests
Hypotrichosis 13 tests
Hypotrichosis 113 tests
Hypotrichosis 123 tests
Hypotrichosis 131 test
Hypotrichosis 141 test
Hypotrichosis 22 tests
Hypotrichosis 32 tests
Hypotrichosis 43 tests
Hypotrichosis 63 tests
Hypotrichosis 73 tests
Hypotrichosis 83 tests
Hypotrichosis-lymphedema-telangiectasia syndrome1 test
Hypouricemia, renal, 22 tests
I blood group system1 test
IFAP syndrome with or without BRESHECK syndrome7 tests
IMAGe syndrome2 tests
INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WILSON-TURNER TYPE2 tests
Ichthyosis1 test
Ichthyosis bullosa of Siemens2 tests
Ichthyosis hystrix of Curth-Macklin1 test
Ichthyosis lamellar, recessive1 test
Ichthyosis prematurity syndrome4 tests
Ichthyosis vulgaris2 tests
Ichthyosis, congenital, autosomal recessive 121 test
Ichthyosis, congenital, autosomal recessive 131 test
Ichthyosis, hystrix-like, with hearing loss2 tests
Idiopathic Pulmonary Fibrosis3 tests
Idiopathic basal ganglia calcification 15 tests
Idiopathic hypereosinophilic syndrome3 tests
IgE responsiveness, atopic2 tests
Imerslund-Grasbeck syndrome4 tests
Imerslund-Grasbeck syndrome type 14 tests
Imerslund-Grasbeck syndrome type 22 tests
Immunodeficiency 1049 tests
Immunodeficiency 143 tests
Immunodeficiency 14b, autosomal recessive2 tests
Immunodeficiency 15a4 tests
Immunodeficiency 186 tests
Immunodeficiency 197 tests
Immunodeficiency 231 test
Immunodeficiency 257 tests
Immunodeficiency 32B3 tests
Immunodeficiency 331 test
Immunodeficiency 352 tests
Immunodeficiency 361 test
Immunodeficiency 473 tests
Immunodeficiency 511 test
Immunodeficiency 571 test
Immunodeficiency 601 test
Immunodeficiency 641 test
Immunodeficiency 672 tests
Immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia2 tests
Immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia1 test
Immunodeficiency 752 tests
Immunodeficiency 78 with autoimmunity and developmental delay1 test
Immunodeficiency 957 tests
Immunodeficiency 961 test
Immunodeficiency due to CD25 deficiency6 tests
Immunodeficiency due to MASP-2 deficiency1 test
Immunodeficiency due to ficolin3 deficiency1 test
Immunodeficiency without anhidrotic ectodermal dysplasia1 test
Immunodeficiency, common variable, 15 tests
Immunodeficiency, common variable, 104 tests
Immunodeficiency, common variable, 122 tests
Immunodeficiency, common variable, 23 tests
Immunodeficiency, common variable, 35 tests
Immunodeficiency, common variable, 44 tests
Immunodeficiency, common variable, 52 tests
Immunodeficiency, common variable, 65 tests
Immunodeficiency, common variable, 73 tests
Immunodeficiency, developmental delay, and hypohomocysteinemia3 tests
Immunodeficiency-centromeric instability-facial anomalies syndrome 12 tests
Immunodeficiency-centromeric instability-facial anomalies syndrome 25 tests
Immunodeficiency-centromeric instability-facial anomalies syndrome 31 test
Immunodeficiency-centromeric instability-facial anomalies syndrome 41 test
Immunoglobulin A deficiency 24 tests
Immunoglobulin-mediated membranoproliferative glomerulonephritis5 tests
Immunoskeletal dysplasia with neurodevelopmental abnormalities1 test
Inborn mitochondrial myopathy2 tests
Inclusion body myopathy and brain white matter abnormalities2 tests
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 22 tests
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 31 test
Inclusion body myositis1 test
Incontinentia pigmenti syndrome1 test
Infantile GM1 gangliosidosis3 tests
Infantile cerebellar-retinal degeneration8 tests
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly5 tests
Infantile cortical hyperostosis2 tests
Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency7 tests
Infantile hypophosphatasia1 test
Infantile liver failure syndrome 210 tests
Infantile nephronophthisis7 tests
Infantile neuroaxonal dystrophy8 tests
Infantile onset spinocerebellar ataxia12 tests
Infantile-onset X-linked spinal muscular atrophy4 tests
Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression1 test
Infantile-onset periodic fever-panniculitis-dermatosis syndrome1 test
Infertility1 test
Infertility associated with multi-tailed spermatozoa and excessive DNA1 test
Infertility due to oligospermia1 test
Inflammatory bowel disease 11 test
Inflammatory bowel disease 131 test
Inflammatory bowel disease 281 test
Inflammatory bowel disease, immunodeficiency, and encephalopathy5 tests
Inflammatory skin and bowel disease, neonatal, 1