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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: 1216

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
AHDC12Nov 4, 2022
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
ANKRD115Nov 4, 2022
ANO31Dec 21, 2021
ANTXR21Aug 5, 2020
AP5Z11Aug 5, 2020
APC1Aug 5, 2020
APOC21Dec 21, 2021
APOC4-APOC21Dec 21, 2021
APOE2Nov 4, 2022
APP1Dec 21, 2021
APP-DT1Dec 21, 2021
ARFGEF1-DT1Dec 21, 2021
ARG12Dec 21, 2021
ARHGEF91Aug 5, 2020
ARID1B4Nov 4, 2022
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
BCORL12Nov 4, 2022
BLK1Dec 21, 2021
BLM1Aug 5, 2020
BMPR1A1Jul 14, 2020
BPTF1Dec 21, 2021
BRAT12Nov 4, 2022
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
CCDST2Nov 29, 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
COL4A14Nov 4, 2022
COL4A21Dec 21, 2021
COL4A312Feb 22, 2022
COL4A48Feb 22, 2022
COL4A511Feb 22, 2022
COL5A14Dec 21, 2021
COL6A11Dec 21, 2021
COL6A23Dec 19, 2022
COL7A11Aug 5, 2020
COLQ1Dec 21, 2021
COMP2Dec 21, 2021
COQ43Dec 21, 2021
COQ8A1Dec 21, 2021
COQ8B1Nov 4, 2022
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
DYRK1A2Nov 4, 2022
DYSF1Aug 5, 2020
ECEL12Dec 21, 2021
EEF21Dec 21, 2021
EHMT11Aug 5, 2020
ELOVL41Dec 21, 2021
EMD1Aug 5, 2020
ENO32Dec 21, 2021
ENPP11Dec 21, 2021
EP3006Nov 4, 2022
EPCAM2Jul 14, 2020
ERBB42Dec 21, 2021
ERCC61Aug 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
KMT2D6Nov 4, 2022
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
LOC1005062351Dec 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
LOC1268058901Dec 21, 2021
LOC1268065831Dec 21, 2021
LOC1268066581Dec 21, 2021
LOC1268597122Dec 21, 2021
LOC1268598271Aug 5, 2020
LOC1268601301Aug 5, 2020
LOC1268603691Jul 14, 2020
LOC1268612421Jul 14, 2020
LOC1268618971Aug 5, 2020
LOC1268621561Dec 15, 2021
LOC1268622641Dec 21, 2021
LOC1268624471Aug 5, 2020
LOC1268631581Aug 5, 2020
LOC1287722541Aug 5, 2020
LOC1299305611Dec 21, 2021
LOC1299928131Dec 21, 2021
LOC1299941261Aug 5, 2020
LOC1299943711Aug 5, 2020
LOC1299987961Jul 14, 2020
LOC1300031351Aug 5, 2020
LOC1300095851Aug 5, 2020
LOC1300564531Dec 21, 2021
LOC1300623401Jul 14, 2020
LOC1300631691Dec 21, 2021
LOX1Aug 5, 2020
LPL4Jul 14, 2020
LRBA5Dec 21, 2021
LRP42Dec 21, 2021
LRP51Dec 21, 2021
LRPPRC2Nov 4, 2022
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
MECP25Nov 4, 2022
MED123Nov 4, 2022
MED12L1Dec 21, 2021
MED131Dec 21, 2021
MED13L4Nov 4, 2022
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
MVP-DT2Dec 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
PAH7Nov 4, 2022
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
PEX13Nov 4, 2022
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
POLGARF4Dec 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
PTCH12Nov 4, 2022
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
SC5D1Nov 4, 2022
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
SETD51Nov 4, 2022
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
SLC22A53Nov 4, 2022
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
SOX112Nov 4, 2022
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
TCF45Nov 4, 2022
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 syndrome2Nov 4, 2022
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 21Nov 4, 2022
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, 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 1A3Dec 19, 2022
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
Brain small vessel disease 1 with or without ocular anomalies4Nov 4, 2022
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-ongenital disorder of glycosylation1Aug 5, 2020
Camptodactyly-arthropathy-coxa vara-pericarditis syndrome3Aug 5, 2020
Capillary malformation-arteriovenous malformation 12Dec 21, 2021
Cardiac anomalies - developmental delay - facial dysmorphism syndrome4Nov 4, 2022
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
Cerebellar dysfunction with variable cognitive and behavioral abnormalities1Dec 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
Classic dopamine transporter deficiency syndrome1Dec 21, 2021
Cockayne syndrome type 21Aug 5, 2020
Coffin-Siris syndrome 14Nov 4, 2022
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
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 lactic acidosis, Saguenay-Lac-Saint-Jean type2Nov 4, 2022
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 4B, autosomal recessive1Aug 5, 2020
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 syndrome2Nov 4, 2022
DeSanto-Shinawi syndrome due to WAC point mutation1Dec 21, 2021
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
FG syndrome 11Nov 4, 2022
Fabry disease4Dec 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 syndrome1Aug 5, 2020
Gorlin syndrome2Nov 4, 2022
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
Hereditary von Willebrand disease1Jul 14, 2020
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
Houge-Janssens syndrome 21Dec 21, 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
Ichthyosis vulgaris2Nov 29, 2021
Idiopathic basal ganglia calcification 11Dec 21, 2021
Immunodeficiency 491Dec 21, 2021
Immunodeficiency 531Jul 14, 2020
Immunodeficiency 83, susceptibility to viral infections1Dec 21, 2021
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 autism and macrocephaly7Dec 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 272Nov 4, 2022
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-epilepsy-extrapyramidal syndrome1Aug 5, 2020
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency1Nov 4, 2022
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 syndrome5Nov 4, 2022
Kabuki syndrome 16Nov 4, 2022
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
Lathosterolosis1Nov 4, 2022
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
Lynch syndrome 41Dec 21, 2021
Lynch syndrome 51Dec 21, 2021
Lysosomal acid lipase deficiency1Dec 21, 2021
MASA syndrome1Nov 29, 2021
MIRAGE syndrome1Dec 21, 2021
MOGS-congenital disorder of glycosylation1Aug 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
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 DNA depletion syndrome 6 (hepatocerebral type)1Jul 14, 2020
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
Nemaline myopathy 21Dec 21, 2021
Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome3Dec 21, 2021
Neonatal-onset encephalopathy with rigidity and seizures2Nov 4, 2022
Nephrotic syndrome 141Aug 5, 2020
Nephrotic syndrome, type 91Nov 4, 2022
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
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, 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-congenital disorder of glycosylation3Dec 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
Periventricular nodular heterotopia 61Dec 21, 2021
Periventricular nodular heterotopia 71Dec 21, 2021
Periventricular nodular heterotopia 91Dec 21, 2021
Peroxisome biogenesis disorder 1B1Nov 4, 2022
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
Phenylketonuria7Nov 4, 2022
Pheochromocytoma1Dec 21, 2021
Phosphoribosylpyrophosphate synthetase superactivity1Dec 21, 2021
Piebaldism1Dec 21, 2021
Pierson syndrome1Aug 5, 2020
Pigmentary pallidal degeneration1Jul 14, 2020
Pigmented nodular adrenocortical disease, primary, 24Dec 21, 2021
Pitt-Hopkins syndrome5Nov 4, 2022
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
Primrose syndrome1Dec 21, 2021
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 defect3Nov 4, 2022
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 syndrome4Nov 4, 2022
Rett syndrome, congenital variant1Aug 5, 2020
Rhizomelic chondrodysplasia punctata type 31Dec 21, 2021
Rotor syndrome1Dec 21, 2021
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency6Nov 4, 2022
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 syndrome2Nov 4, 2022
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 syndrome2Dec 21, 2021
Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy3Aug 5, 2020
Spastic paraplegia, intellectual disability, nystagmus, and obesity1Dec 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
Tangier disease1Nov 29, 2021
Tatton-Brown-Rahman overgrowth syndrome1Aug 5, 2020
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
Type A2 brachydactyly1Dec 21, 2021
Tyrosinemia type I3Jul 14, 2020
Ullrich congenital muscular dystrophy 1A1Aug 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 myopathy 11Dec 21, 2021
Werdnig-Hoffmann disease1Jul 14, 2020
Wieacker-Wolff syndrome1Dec 21, 2021
Wiedemann-Steiner syndrome2Dec 21, 2021
Wilson disease6Dec 21, 2021
Wilson-Turner syndrome1Dec 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

Testing in GTR

Disease nameNumber of tests
11p partial monosomy syndrome1 test
2-aminoadipic 2-oxoadipic aciduria1 test
3 beta-Hydroxysteroid dehydrogenase deficiency9 tests
3-Methylglutaconic aciduria type 27 tests
3-Methylglutaconic aciduria type 31 test
3-hydroxy-3-methylglutaryl-CoA synthase deficiency7 tests
3-methylcrotonyl-CoA carboxylase 1 deficiency7 tests
3-methylcrotonyl-CoA carboxylase 2 deficiency8 tests
3-methylglutaconic aciduria type 19 tests
3-methylglutaconic aciduria type 58 tests
3-methylglutaconic aciduria type 88 tests
3-methylglutaconic aciduria type 95 tests
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome9 tests
3-methylglutaconic aciduria, type VIIA1 test
3-methylglutaconic aciduria, type VIIB1 test
3M syndrome 15 tests
3M syndrome 23 tests
3M syndrome 31 test
3MC syndrome 13 tests
3MC syndrome 22 tests
3MC syndrome 32 tests
46,XX ovarian dysgenesis-short stature syndrome2 tests
46,XX sex reversal 41 test
46,XY disorder of sex development due to testicular 17,20-desmolase deficiency3 tests
46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome1 test
46,XY sex reversal 11 test
46,XY sex reversal 25 tests
46,XY sex reversal 31 test
46,XY sex reversal 61 test
46,XY sex reversal 73 tests
46,XY sex reversal 93 tests
46,xx sex reversal 51 test
5p partial monosomy syndrome1 test
6-Pyruvoyl-tetrahydrobiopterin synthase deficiency8 tests
ABCD syndrome7 tests
ABri amyloidosis1 test
ACTH-independent macronodular adrenal hyperplasia 13 tests
ACTH-independent macronodular adrenal hyperplasia 25 tests
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder3 tests
ADULT syndrome4 tests
ADan amyloidosis5 tests
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome4 tests
AICA-ribosiduria4 tests
ALDH18A1-related de Barsy syndrome1 test
ALG1-congenital disorder of glycosylation5 tests
ALG11-congenital disorder of glycosylation7 tests
ALG12-congenital disorder of glycosylation6 tests
ALG2-congenital disorder of glycosylation1 test
ALG3-congenital disorder of glycosylation6 tests
ALG6-congenital disorder of glycosylation 1C5 tests
ALG8 congenital disorder of glycosylation4 tests
ALG9 congenital disorder of glycosylation1 test
Aarskog syndrome4 tests
Abdominal obesity-metabolic syndrome 32 tests
Abetalipoproteinaemia5 tests
Ablepharon macrostomia syndrome1 test
Abortive cerebellar ataxia9 tests
Abruzzo-Erickson syndrome1 test
Absence seizure1 test
Acatalasia3 tests
Accelerated tumor formation, susceptibility to1 test
Acetyl-CoA: carboxylase deficiency3 tests
Achondrogenesis type II1 test
Achondrogenesis, type IA4 tests
Achondrogenesis, type IB1 test
Achondroplasia1 test
Achromatopsia 22 tests
Achromatopsia 35 tests
Achromatopsia 42 tests
Achromatopsia 72 tests
Acne inversa, familial, 12 tests
Acne inversa, familial, 22 tests
Acne inversa, familial, 31 test
Acquired hemoglobin H disease12 tests
Acral peeling skin syndrome2 tests
Acrocallosal syndrome10 tests
Acrocapitofemoral dysplasia4 tests
Acrocephalosyndactyly type I1 test
Acrodermatitis continua suppurativa of Hallopeau2 tests
Acrodysostosis 1 with or without hormone resistance8 tests
Acrodysostosis 2 with or without hormone resistance5 tests
Acroerythrokeratoderma1 test
Acrokeratosis verruciformis of Hopf1 test
Acromelic frontonasal dysostosis1 test
Acromesomelic dysplasia 1, Maroteaux type1 test
Acromesomelic dysplasia 2B1 test
Acromesomelic dysplasia 31 test
Acromicric dysplasia2 tests
Acroosteolysis-keloid-like lesions-premature aging syndrome1 test
Actin accumulation myopathy6 tests
Action myoclonus-renal failure syndrome6 tests
Acute febrile neutrophilic dermatosis2 tests
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins1 test
Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome4 tests
Acute intermittent porphyria6 tests
Acute lymphoid leukemia8 tests
Acute myeloid leukemia7 tests
Acute necrotizing encephalopathy of childhood1 test
Acute promyelocytic leukemia1 test
Acyl-CoA dehydrogenase 9 deficiency9 tests
Acyl-CoA oxidase deficiency1 test
Adams-Oliver syndrome 18 tests
Adams-Oliver syndrome 25 tests
Adams-Oliver syndrome 32 tests
Adams-Oliver syndrome 44 tests
Adams-Oliver syndrome 53 tests
Adams-Oliver syndrome 64 tests
Adenine phosphoribosyltransferase deficiency1 test
Adenosine kinase deficiency5 tests
Adenylosuccinate lyase deficiency7 tests
Adermatoglyphia1 test
Adrenocortical carcinoma, hereditary8 tests
Adrenoleukodystrophy12 tests
Adult hepatocellular carcinoma3 tests
Adult hypophosphatasia9 tests
Adult polyglucosan body disease10 tests
Adult-onset autosomal dominant demyelinating leukodystrophy1 test
Adult-onset proximal spinal muscular atrophy, autosomal dominant1 test
Advanced sleep phase syndrome 13 tests
Agammaglobulinemia 2, autosomal recessive2 tests
Agammaglobulinemia 3, autosomal recessive3 tests
Agammaglobulinemia 4, autosomal recessive3 tests
Agammaglobulinemia 5, autosomal dominant2 tests
Agammaglobulinemia 6, autosomal recessive3 tests
Agammaglobulinemia 7, autosomal recessive1 test
Agammaglobulinemia 8, autosomal dominant1 test
Agammaglobulinemia 8b, autosomal recessive1 test
Age related macular degeneration 12 tests
Age related macular degeneration 121 test
Age related macular degeneration 131 test
Age related macular degeneration 143 tests
Age related macular degeneration 151 test
Age related macular degeneration 21 test
Age related macular degeneration 51 test
Age related macular degeneration 62 tests
Age related macular degeneration 74 tests
Age related macular degeneration 91 test
Agenesis of corpus callosum, cardiac, ocular, and genital syndrome1 test
Agenesis of the corpus callosum with peripheral neuropathy5 tests
Aggressive systemic mastocytosis1 test
Agnathia-otocephaly complex1 test
Aicardi Goutieres syndrome1 test
Aicardi-Goutieres syndrome 11 test
Aicardi-Goutieres syndrome 210 tests
Aicardi-Goutieres syndrome 37 tests
Aicardi-Goutieres syndrome 48 tests
Aicardi-Goutieres syndrome 57 tests
Aicardi-Goutieres syndrome 62 tests
Aicardi-Goutieres syndrome 71 test
Alacrima, achalasia, and intellectual disability syndrome6 tests
Alagille syndrome due to a JAG1 point mutation1 test
Alagille syndrome due to a NOTCH2 point mutation2 tests
Alazami-Yuan syndrome4 tests
Alcohol dependence1 test
Alcohol sensitivity, acute3 tests
Aldosterone-producing adenoma with seizures and neurological abnormalities1 test
Alexander disease8 tests
Alkaptonuria5 tests
Alkuraya-Kucinskas syndrome3 tests
Allan-Herndon-Dudley syndrome8 tests
Alobar holoprosencephaly1 test
Alopecia universalis congenita1 test
Alopecia-intellectual disability syndrome 41 test
Alpha mannosidosis type II6 tests
Alpha thalassemia-X-linked intellectual disability syndrome1 test
Alpha-1-antitrypsin deficiency5 tests
Alpha-2-plasmin inhibitor deficiency2 tests
Alpha-N-acetylgalactosaminidase deficiency type 112 tests
Alpha-N-acetylgalactosaminidase deficiency type 21 test
Alpha-methylacyl-CoA racemase deficiency5 tests
Alternating hemiplegia of childhood 11 test
Alternating hemiplegia of childhood 21 test
Alveolar capillary dysplasia with pulmonary venous misalignment2 tests
Alveolar rhabdomyosarcoma5 tests
Alzheimer disease 26 tests
Alzheimer disease 37 tests
Alzheimer disease 41 test
Alzheimer disease 93 tests
Alzheimer disease type 15 tests
Amelocerebrohypohidrotic syndrome3 tests
Amelogenesis imperfecta - hypoplastic autosomal dominant - local1 test
Amelogenesis imperfecta type 1A1 test
Amelogenesis imperfecta type 1C1 test
Amelogenesis imperfecta type 1E2 tests
Amelogenesis imperfecta type 1H1 test
Aminoacylase 1 deficiency5 tests
Aminoglycoside-induced deafness7 tests
Amish lethal microcephaly9 tests
Amyotrophic lateral sclerosis 26 with or without frontotemporal dementia1 test
Amyotrophic lateral sclerosis type 19 tests
Amyotrophic lateral sclerosis type 103 tests
Amyotrophic lateral sclerosis type 111 test
Amyotrophic lateral sclerosis type 124 tests
Amyotrophic lateral sclerosis type 153 tests
Amyotrophic lateral sclerosis type 161 test
Amyotrophic lateral sclerosis type 183 tests
Amyotrophic lateral sclerosis type 194 tests
Amyotrophic lateral sclerosis type 2, juvenile1 test
Amyotrophic lateral sclerosis type 202 tests
Amyotrophic lateral sclerosis type 214 tests
Amyotrophic lateral sclerosis type 226 tests
Amyotrophic lateral sclerosis type 231 test
Amyotrophic lateral sclerosis type 46 tests
Amyotrophic lateral sclerosis type 51 test
Amyotrophic lateral sclerosis type 64 tests
Amyotrophic lateral sclerosis type 84 tests
Amyotrophic lateral sclerosis type 93 tests
Amyotrophic lateral sclerosis, susceptibility to, 247 tests
Amyotrophic lateral sclerosis, susceptibility to, 251 test
Amyotrophic neuralgia1 test
Anaplastic oligoastrocytoma2 tests
Anauxetic dysplasia 23 tests
Anauxetic dysplasia 32 tests
Andersen Tawil syndrome4 tests
Androgen resistance syndrome3 tests
Anemia, congenital dyserythropoietic, type 1a2 tests
Anemia, nonspherocytic hemolytic, due to G6PD deficiency10 tests
Aneurysm-osteoarthritis syndrome4 tests
Angelman syndrome6 tests
Angelman syndrome due to imprinting defect in 15q11-q131 test
Angioedema, hereditary, 41 test
Aniridia 11 test
Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome1 test
Annular epidermolytic ichthyosis2 tests
Anophthalmia/microphthalmia-esophageal atresia syndrome10 tests
Anterior segment dysgenesis 11 test
Anterior segment dysgenesis 41 test
Anterior segment dysgenesis 64 tests
Anterior segment dysgenesis 75 tests
Antigen in Cartwright blood group system3 tests
Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis6 tests
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis1 test
Anxiety3 tests
Aortic aneurysm, familial thoracic 103 tests
Aortic aneurysm, familial thoracic 41 test
Aortic aneurysm, familial thoracic 61 test
Aortic aneurysm, familial thoracic 71 test
Aortic aneurysm, familial thoracic 84 tests
Aortic aneurysm, familial thoracic 94 tests
Aortic valve disease 17 tests
Aortic valve disease 32 tests
Aplastic anemia13 tests
Apolipoprotein c-III deficiency2 tests
Apparent mineralocorticoid excess2 tests
Arginase deficiency7 tests
Arginine:glycine amidinotransferase deficiency1 test
Argininosuccinate lyase deficiency6 tests
Ariboflavinosis2 tests
Aromatase deficiency6 tests
Aromatase excess syndrome1 test
Arrhinia with choanal atresia and microphthalmia syndrome1 test
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma1 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 134 tests
Arrhythmogenic right ventricular dysplasia 21 test
Arrhythmogenic right ventricular dysplasia 51 test
Arrhythmogenic right ventricular dysplasia 81 test
Arrhythmogenic right ventricular dysplasia 91 test
Arrhythmogenic right ventricular dysplasia, familial, 142 tests
Arterial calcification, generalized, of infancy, 15 tests
Arterial calcification, generalized, of infancy, 21 test
Arterial tortuosity syndrome5 tests
Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect3 tests
Arthrogryposis multiplex congenita 3, myogenic type1 test
Arthrogryposis multiplex congenita 54 tests
Arthrogryposis multiplex congenita 65 tests
Arthrogryposis, Perthes disease, and upward gaze palsy1 test
Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development3 tests
Arthrogryposis, distal, IIa 111 test
Arthrogryposis, distal, type 1A1 test
Arthrogryposis, distal, type 1B1 test
Arthrogryposis, distal, type 2B24 tests
Arthrogryposis, distal, type 2B31 test
Arthrogryposis, distal, with impaired proprioception and touch4 tests
Arthrogryposis, renal dysfunction, and cholestasis 18 tests
Arthrogryposis, renal dysfunction, and cholestasis 27 tests
Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome1 test
Aspartylglucosaminuria6 tests
Asperger syndrome, X-linked, susceptibility to, 13 tests
Asperger syndrome, X-linked, susceptibility to, 21 test
Asphyxiating thoracic dystrophy 24 tests
Asphyxiating thoracic dystrophy 36 tests
Asphyxiating thoracic dystrophy 41 test
Asphyxiating thoracic dystrophy 51 test
Astrocytoma, anaplastic2 tests
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome5 tests
Ataxia - oculomotor apraxia type 43 tests
Ataxia with oculomotor apraxia type 35 tests
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia9 tests
Ataxia-hypogonadism-choroidal dystrophy syndrome1 test
Ataxia-pancytopenia syndrome2 tests
Ataxia-telangiectasia syndrome17 tests
Ataxia-telangiectasia-like disorder 110 tests
Ataxia-telangiectasia-like disorder 21 test
Atelosteogenesis type I4 tests
Atelosteogenesis type II7 tests
Atelosteogenesis type III1 test
Atrial conduction disease2 tests
Atrial fibrillation, familial, 101 test
Atrial fibrillation, familial, 111 test
Atrial fibrillation, familial, 122 tests
Atrial fibrillation, familial, 142 tests
Atrial fibrillation, familial, 182 tests
Atrial fibrillation, familial, 41 test
Atrial fibrillation, familial, 61 test
Atrial fibrillation, familial, 73 tests
Atrial fibrillation, familial, 92 tests
Atrial septal defect 24 tests
Atrial septal defect 31 test
Atrial septal defect 41 test
Atrial septal defect 51 test
Atrial septal defect 62 tests
Atrial septal defect 72 tests
Atrial septal defect 81 test
Atrial septal defect 91 test
Atrial standstill 12 tests
Atrial standstill 22 tests
Atrichia with papular lesions1 test
Atrioventricular septal defect 51 test
Atrioventricular septal defect, susceptibility to, 25 tests
Attention deficit-hyperactivity disorder 81 test
Atypical glycine encephalopathy3 tests
Atypical hemolytic-uremic syndrome with B factor anomaly1 test
Atypical hemolytic-uremic syndrome with C3 anomaly3 tests
Atypical hemolytic-uremic syndrome with I factor anomaly3 tests
Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly2 tests
Atypical hemolytic-uremic syndrome with thrombomodulin anomaly4 tests
Auditory neuropathy, autosomal dominant 31 test
Auditory neuropathy-optic atrophy syndrome6 tests
Auriculocondylar syndrome 11 test
Auriculocondylar syndrome 22 tests
Autism spectrum disorder - epilepsy - arthrogryposis syndrome4 tests
Autism spectrum disorder due to AUTS2 deficiency2 tests
Autism, susceptibility to, 154 tests
Autism, susceptibility to, 162 tests
Autism, susceptibility to, 172 tests
Autism, susceptibility to, 52 tests
Autism, susceptibility to, X-linked 11 test
Autism, susceptibility to, X-linked 23 tests
Autism, susceptibility to, X-linked 37 tests
Autism, susceptibility to, X-linked 42 tests
Autism, susceptibility to, X-linked 51 test
Autoimmune disease, multisystem, infantile-onset, 21 test
Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome1 test
Autoimmune interstitial lung disease-arthritis syndrome2 tests
Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency1 test
Autoimmune lymphoproliferative syndrome type 18 tests
Autoimmune lymphoproliferative syndrome type 2A1 test
Autoimmune lymphoproliferative syndrome type 2B1 test
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, 33 tests
Autoinflammation with arthritis and dyskeratosis1 test
Autoinflammation with episodic fever and lymphadenopathy1 test
Autoinflammation, immune dysregulation, and eosinophilia1 test
Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation5 tests
Autoinflammatory disease, X-linked1 test
Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis1 test
Autoinflammatory syndrome, familial, Behcet-like 12 tests
Autosomal dominant Alport syndrome1 test
Autosomal dominant Charcot-Marie-Tooth disease type 2W3 tests
Autosomal dominant Kenny-Caffey syndrome1 test
Autosomal dominant Parkinson disease 11 test
Autosomal dominant Parkinson disease 44 tests
Autosomal dominant Parkinson disease 83 tests
Autosomal dominant Robinow syndrome 16 tests
Autosomal dominant Robinow syndrome 34 tests
Autosomal dominant aplasia and myelodysplasia2 tests
Autosomal dominant auditory neuropathy 12 tests
Autosomal dominant centronuclear myopathy6 tests
Autosomal dominant cerebellar ataxia, deafness and narcolepsy6 tests
Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures1 test
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures1 test
Autosomal dominant deafness - onychodystrophy syndrome1 test
Autosomal dominant distal renal tubular acidosis1 test
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome1 test
Autosomal dominant hypocalcemia 18 tests
Autosomal dominant hypocalcemia 24 tests
Autosomal dominant hypophosphatemic rickets7 tests
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome4 tests
Autosomal dominant isolated somatotropin deficiency1 test
Autosomal dominant keratitis1 test
Autosomal dominant keratitis-ichthyosis-hearing loss syndrome1 test
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)3 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 deficiency2 tests
Autosomal dominant mitochondrial myopathy with exercise intolerance3 tests
Autosomal dominant nocturnal frontal lobe epilepsy 13 tests
Autosomal dominant nocturnal frontal lobe epilepsy 33 tests
Autosomal dominant nocturnal frontal lobe epilepsy 43 tests
Autosomal dominant nocturnal frontal lobe epilepsy 55 tests
Autosomal dominant non-syndromic intellectual disability3 tests
Autosomal dominant nonsyndromic hearing loss 17 tests
Autosomal dominant nonsyndromic hearing loss 101 test
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 151 test
Autosomal dominant nonsyndromic hearing loss 171 test
Autosomal dominant nonsyndromic hearing loss 221 test
Autosomal dominant nonsyndromic hearing loss 231 test
Autosomal dominant nonsyndromic hearing loss 251 test
Autosomal dominant nonsyndromic hearing loss 273 tests
Autosomal dominant nonsyndromic hearing loss 281 test
Autosomal dominant nonsyndromic hearing loss 2A1 test
Autosomal dominant nonsyndromic hearing loss 2B1 test
Autosomal dominant nonsyndromic hearing loss 361 test
Autosomal dominant nonsyndromic hearing loss 3A1 test
Autosomal dominant nonsyndromic hearing loss 3B4 tests
Autosomal dominant nonsyndromic hearing loss 401 test
Autosomal dominant nonsyndromic hearing loss 411 test
Autosomal dominant nonsyndromic hearing loss 441 test
Autosomal dominant nonsyndromic hearing loss 4A2 tests
Autosomal dominant nonsyndromic hearing loss 4B1 test
Autosomal dominant nonsyndromic hearing loss 51 test
Autosomal dominant nonsyndromic hearing loss 561 test
Autosomal dominant nonsyndromic hearing loss 611 tests
Autosomal dominant nonsyndromic hearing loss 646 tests
Autosomal dominant nonsyndromic hearing loss 651 test
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 691 test
Autosomal dominant nonsyndromic hearing loss 701 test
Autosomal dominant nonsyndromic hearing loss 92 tests
Autosomal dominant optic atrophy classic form1 test
Autosomal dominant popliteal pterygium syndrome3 tests
Autosomal dominant pseudohypoaldosteronism type 16 tests
Autosomal dominant sensory ataxia 11 test
Autosomal dominant sideroblastic anemia5 tests
Autosomal dominant slowed nerve conduction velocity3 tests
Autosomal dominant striatal neurodegeneration type 11 test
Autosomal dominant vitreoretinochoroidopathy1 test
Autosomal dominant wooly hair1 test
Autosomal recessive Alport syndrome6 tests
Autosomal recessive DOPA responsive dystonia5 tests
Autosomal recessive Kenny-Caffey syndrome5 tests
Autosomal recessive Parkinson disease 141 test
Autosomal recessive Robinow syndrome8 tests
Autosomal recessive amelia1 test
Autosomal recessive ataxia due to ubiquinone deficiency8 tests
Autosomal recessive ataxia, Beauce type10 tests
Autosomal recessive axonal neuropathy with neuromyotonia4 tests
Autosomal recessive bestrophinopathy1 test
Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome1 test
Autosomal recessive complex spastic paraplegia type 9B1 test
Autosomal recessive congenital ichthyosis 14 tests
Autosomal recessive congenital ichthyosis 103 tests
Autosomal recessive congenital ichthyosis 112 tests
Autosomal recessive congenital ichthyosis 23 tests
Autosomal recessive congenital ichthyosis 33 tests
Autosomal recessive congenital ichthyosis 4A1 test
Autosomal recessive congenital ichthyosis 4B4 tests
Autosomal recessive congenital ichthyosis 53 tests
Autosomal recessive congenital ichthyosis 63 tests
Autosomal recessive congenital ichthyosis 83 tests
Autosomal recessive congenital ichthyosis 93 tests
Autosomal recessive cutis laxa type 2B2 tests
Autosomal recessive cutis laxa type 2C3 tests
Autosomal recessive cutis laxa type 2D5 tests
Autosomal recessive distal spinal muscular atrophy 11 test
Autosomal recessive distal spinal muscular atrophy 23 tests
Autosomal recessive early-onset Parkinson disease 233 tests
Autosomal recessive early-onset Parkinson disease 63 tests
Autosomal recessive early-onset Parkinson disease 74 tests
Autosomal recessive hypophosphatemic bone disease5 tests
Autosomal recessive inherited pseudoxanthoma elasticum10 tests
Autosomal recessive juvenile Parkinson disease 22 tests
Autosomal recessive limb-girdle muscular dystrophy type 2A4 tests
Autosomal recessive limb-girdle muscular dystrophy type 2B1 test
Autosomal recessive limb-girdle muscular dystrophy type 2C5 tests
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 2G1 test
Autosomal recessive limb-girdle muscular dystrophy type 2I8 tests
Autosomal recessive limb-girdle muscular dystrophy type 2J4 tests
Autosomal recessive limb-girdle muscular dystrophy type 2K1 test
Autosomal recessive limb-girdle muscular dystrophy type 2L1 test
Autosomal recessive limb-girdle muscular dystrophy type 2M1 test
Autosomal recessive limb-girdle muscular dystrophy type 2N1 test
Autosomal recessive limb-girdle muscular dystrophy type 2O1 test
Autosomal recessive limb-girdle muscular dystrophy type 2P6 tests
Autosomal recessive limb-girdle muscular dystrophy type 2Q5 tests
Autosomal recessive limb-girdle muscular dystrophy type 2R13 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 2W1 test
Autosomal recessive limb-girdle muscular dystrophy type 2X3 tests
Autosomal recessive limb-girdle muscular dystrophy type 2Y3 tests
Autosomal recessive limb-girdle muscular dystrophy type R183 tests
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency3 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 151 test
Autosomal recessive nonsyndromic hearing loss 161 test
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 1B1 test
Autosomal recessive nonsyndromic hearing loss 29 tests
Autosomal recessive nonsyndromic hearing loss 214 tests
Autosomal recessive nonsyndromic hearing loss 221 test
Autosomal recessive nonsyndromic hearing loss 231 test
Autosomal recessive nonsyndromic hearing loss 241 test
Autosomal recessive nonsyndromic hearing loss 251 test
Autosomal recessive nonsyndromic hearing loss 261 test
Autosomal recessive nonsyndromic hearing loss 283 tests
Autosomal recessive nonsyndromic hearing loss 291 test
Autosomal recessive nonsyndromic hearing loss 31 test
Autosomal recessive nonsyndromic hearing loss 301 test
Autosomal recessive nonsyndromic hearing loss 311 test
Autosomal recessive nonsyndromic hearing loss 321 test
Autosomal recessive nonsyndromic hearing loss 351 test
Autosomal recessive nonsyndromic hearing loss 361 test
Autosomal recessive nonsyndromic hearing loss 373 tests
Autosomal recessive nonsyndromic hearing loss 393 tests
Autosomal recessive nonsyndromic hearing loss 46 tests
Autosomal recessive nonsyndromic hearing loss 421 test
Autosomal recessive nonsyndromic hearing loss 441 test
Autosomal recessive nonsyndromic hearing loss 485 tests
Autosomal recessive nonsyndromic hearing loss 491 test
Autosomal recessive nonsyndromic hearing loss 531 test
Autosomal recessive nonsyndromic hearing loss 591 test
Autosomal recessive nonsyndromic hearing loss 61 test
Autosomal recessive nonsyndromic hearing loss 611 test
Autosomal recessive nonsyndromic hearing loss 631 test
Autosomal recessive nonsyndromic hearing loss 661 test
Autosomal recessive nonsyndromic hearing loss 671 test
Autosomal recessive nonsyndromic hearing loss 681 test
Autosomal recessive nonsyndromic hearing loss 72 tests
Autosomal recessive nonsyndromic hearing loss 701 test
Autosomal recessive nonsyndromic hearing loss 745 tests
Autosomal recessive nonsyndromic hearing loss 761 test
Autosomal recessive nonsyndromic hearing loss 773 tests
Autosomal recessive nonsyndromic hearing loss 791 test
Autosomal recessive nonsyndromic hearing loss 81 test
Autosomal recessive nonsyndromic hearing loss 84B1 test
Autosomal recessive nonsyndromic hearing loss 861 test
Autosomal recessive nonsyndromic hearing loss 881 test
Autosomal recessive nonsyndromic hearing loss 895 tests
Autosomal recessive nonsyndromic hearing loss 92 tests
Autosomal recessive nonsyndromic hearing loss 911 test
Autosomal recessive nonsyndromic hearing loss 931 test
Autosomal recessive nonsyndromic hearing loss 971 test
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 54 tests
Autosomal recessive osteopetrosis 62 tests
Autosomal recessive osteopetrosis 85 tests
Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity2 tests
Autosomal recessive proximal renal tubular acidosis5 tests
Autosomal recessive pseudohypoaldosteronism type 13 tests
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency1 test
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency3 tests
Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency4 tests
Autosomal recessive spastic paraplegia type 765 tests
Autosomal recessive spastic paraplegia type 781 test
Autosomal recessive spinocerebellar ataxia 104 tests
Autosomal recessive spinocerebellar ataxia 127 tests
Autosomal recessive spinocerebellar ataxia 134 tests
Autosomal recessive spinocerebellar ataxia 141 test
Autosomal recessive spinocerebellar ataxia 154 tests
Autosomal recessive spinocerebellar ataxia 163 tests
Autosomal recessive spinocerebellar ataxia 174 tests
Autosomal recessive spinocerebellar ataxia 185 tests
Autosomal recessive spinocerebellar ataxia 25 tests
Autosomal recessive spinocerebellar ataxia 204 tests
Autosomal recessive spinocerebellar ataxia 79 tests
Autosomal recessive spondylometaphyseal dysplasia, Megarbane type3 tests
Autosomal systemic lupus erythematosus type 162 tests
Avascular necrosis of femoral head, primary, 11 test
Avascular necrosis of femoral head, primary, 21 test
Axenfeld-Rieger syndrome type 16 tests
Axenfeld-Rieger syndrome type 36 tests
Ayme-Gripp syndrome3 tests
Azorean disease3 tests
B-cell immunodeficiency, distal limb anomalies, and urogenital malformations1 test
B4GALT1-congenital disorder of glycosylation5 tests
BAP1-related tumor predisposition syndrome4 tests
BDV syndrome1 test
BENTA disease4 tests
BLOOD GROUP, EMM SYSTEM1 test
BLOOD GROUP--DIEGO SYSTEM1 test
BLOOD GROUP--FROESE1 test
BLOOD GROUP--LUTHERAN INHIBITOR1 test
BLOOD GROUP--SWANN SYSTEM1 test
BLOOD GROUP--WALDNER TYPE1 test
BLOOD GROUP--WRIGHT ANTIGEN1 test
BNAR syndrome5 tests
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 191 test
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 202 tests
Bailey-Bloch congenital myopathy3 tests
Bamforth-Lazarus syndrome2 tests
Band heterotopia of brain3 tests
Baraitser-Winter syndrome 15 tests
Baraitser-winter syndrome 24 tests
Barber-Say syndrome1 test
Bardet-Biedl syndrome 113 tests
Bardet-Biedl syndrome 1011 tests
Bardet-Biedl syndrome 1111 tests
Bardet-Biedl syndrome 1211 tests
Bardet-Biedl syndrome 139 tests
Bardet-Biedl syndrome 146 tests
Bardet-Biedl syndrome 155 tests
Bardet-Biedl syndrome 161 test
Bardet-Biedl syndrome 178 tests
Bardet-Biedl syndrome 198 tests
Bardet-Biedl syndrome 23 tests
Bardet-Biedl syndrome 201 test
Bardet-Biedl syndrome 311 tests
Bardet-Biedl syndrome 412 tests
Bardet-Biedl syndrome 510 tests
Bardet-Biedl syndrome 613 tests
Bardet-Biedl syndrome 711 tests
Bardet-Biedl syndrome 81 test
Bardet-Biedl syndrome 911 tests
Bardet-biedl syndrome 216 tests
Barrett esophagus3 tests
Bartsocas-Papas syndrome 11 test
Bartter disease type 14 tests
Bartter disease type 24 tests
Bartter disease type 4A7 tests
Bartter disease type 4B4 tests
Basal cell carcinoma, susceptibility to, 13 tests
Basal cell carcinoma, susceptibility to, 78 tests
Basal ganglia calcification, idiopathic, 41 test
Basal ganglia calcification, idiopathic, 52 tests
Basal ganglia calcification, idiopathic, 63 tests
Basal ganglia calcification, idiopathic, 7, autosomal recessive3 tests
Basal ganglia calcification, idiopathic, 8, autosomal recessive2 tests
Basan syndrome1 test
Beare-Stevenson cutis gyrata syndrome1 test
Becker muscular dystrophy7 tests
Beckwith-Wiedemann syndrome9 tests
Benign concentric annular macular dystrophy2 tests
Benign familial hematuria6 tests
Benign hereditary chorea1 test
Benign recurrent intrahepatic cholestasis type 14 tests
Benign recurrent intrahepatic cholestasis type 21 test
Bent bone dysplasia syndrome 11 test
Bernard Soulier syndrome5 tests
Bernard-Soulier syndrome, type A2, autosomal dominant1 test
Beta-D-mannosidosis12 tests
Beta-hydroxyisobutyryl-CoA deacylase deficiency8 tests
Beta-thalassemia HBB/LCRB2 tests
Beta-thalassemia-X-linked thrombocytopenia syndrome1 test
Bethlem myopathy 1A7 tests
Bethlem myopathy 25 tests
Bietti crystalline corneoretinal dystrophy2 tests
Bifunctional peroxisomal enzyme deficiency9 tests
Bilateral frontoparietal polymicrogyria7 tests
Bilateral parasagittal parieto-occipital polymicrogyria7 tests
Bile acid conjugation defect 12 tests
Bilirubin, serum level of, quantitative trait locus 17 tests
Biotin-responsive basal ganglia disease9 tests
Biotinidase deficiency10 tests
Birk-Barel syndrome3 tests
Birt-Hogg-Dube syndrome4 tests
Blau syndrome1 test
Bleeding disorder, platelet-type, 13, susceptibility to1 test
Bleeding disorder, platelet-type, 213 tests
Bleeding disorder, platelet-type, 244 tests
Blepharocheilodontic syndrome 11 test
Blepharocheilodontic syndrome 22 tests
Blepharophimosis - intellectual disability syndrome, MKB type2 tests
Blepharophimosis - intellectual disability syndrome, SBBYS type1 test
Blepharophimosis, ptosis, and epicanthus inversus syndrome1 test
Blepharophimosis-impaired intellectual development syndrome4 tests
Blood group, Gerbich system2 tests
Blood group, I system2 tests
Bloom syndrome7 tests
Body mass index quantitative trait locus 125 tests
Body mass index quantitative trait locus 181 test
Body mass index quantitative trait locus 42 tests
Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency3 tests
Bohring-Opitz syndrome1 test
Bone marrow failure syndrome 33 tests
Bone marrow failure syndrome 42 tests
Bone marrow failure syndrome 58 tests
Bone marrow failure syndrome 61 test
Bone mineral density quantitative trait locus 182 tests
Bone osteosarcoma11 tests
Boomerang dysplasia1 test
Borjeson-Forssman-Lehmann syndrome9 tests
Bosch-Boonstra-Schaaf optic atrophy syndrome6 tests
Bothnia retinal dystrophy6 tests
Brachydactyly type A1A1 test
Brachydactyly type A1C1 test
Brachydactyly type A1D5 tests
Brachydactyly type B11 test
Brachydactyly type B21 test
Brachydactyly type C1 test
Brachydactyly type E13 tests
Brachydactyly type E24 tests
Brachyolmia-amelogenesis imperfecta syndrome2 tests
Brachyrachia (short spine dysplasia)1 test
Bradyopsia3 tests
Brain abnormalities, neurodegeneration, and dysosteosclerosis2 tests
Brain small vessel disease 1 with or without ocular anomalies14 tests
Brain small vessel disease 34 tests
Brain-lung-thyroid syndrome3 tests
Branched-chain keto acid dehydrogenase kinase deficiency5 tests
Branchiogenic deafness syndrome1 test
Branchiooculofacial syndrome6 tests
Branchiootic syndrome 16 tests
Branchiootic syndrome 34 tests
Branchiootorenal syndrome 11 test
Branchiootorenal syndrome 24 tests
Breast-ovarian cancer, familial, susceptibility to, 112 tests
Breast-ovarian cancer, familial, susceptibility to, 212 tests
Breast-ovarian cancer, familial, susceptibility to, 37 tests
Breast-ovarian cancer, familial, susceptibility to, 44 tests
Breasts and/or nipples, aplasia or hypoplasia of, 21 test
Brittle cornea syndrome 13 tests
Brittle cornea syndrome 23 tests
Brody myopathy3 tests
Bronchiectasis with or without elevated sweat chloride 13 tests
Bronchiectasis with or without elevated sweat chloride 24 tests
Bronchiectasis with or without elevated sweat chloride 34 tests
Brooke-Spiegler syndrome3 tests
Brown-Vialetto-van Laere syndrome 18 tests
Brown-Vialetto-van Laere syndrome 28 tests
Bruck syndrome 18 tests
Bruck syndrome 27 tests
Brugada syndrome1 test
Brugada syndrome 11 test
Brugada syndrome 22 tests
Brugada syndrome 31 test
Brugada syndrome 45 tests
Brugada syndrome 64 tests
Brugada syndrome 72 tests
Brugada syndrome 81 test
Brugada syndrome 91 test
Brunner syndrome4 tests
Bryant-Li-Bhoj neurodevelopmental syndrome 11 test
Budd-Chiari syndrome3 tests
Bullous ichthyosiform erythroderma2 tests
Burkitt lymphoma1 test
C syndrome3 tests
C1 inhibitor deficiency2 tests
C1Q deficiency4 tests
C3 glomerulonephritis1 test
CBL-related disorder3 tests
CCDC115-CDG3 tests
CEDNIK syndrome8 tests
CFHR5 deficiency2 tests
CHARGE association5 tests
CHIME syndrome3 tests
CK syndrome1 test
CLAPO syndrome1 test
CLOVES syndrome1 test
COACH syndrome 11 test
COACH syndrome 211 tests
CODAS syndrome3 tests
COG1 congenital disorder of glycosylation6 tests
COG4-congenital disorder of glycosylation1 test
COG5-congenital disorder of glycosylation6 tests
COG6-ongenital disorder of glycosylation6 tests
COG7 congenital disorder of glycosylation6 tests
COG8-congenital disorder of glycosylation5 tests
COPD, severe early onset3 tests
CYP2C19-related poor drug metabolism1 test
Café-au-lait macules with pulmonary stenosis2 tests
Calvarial doughnut lesions-bone fragility syndrome2 tests
Camptodactyly-arthropathy-coxa vara-pericarditis syndrome1 test
Camptodactyly-tall stature-scoliosis-hearing loss syndrome1 test
Camptomelic dysplasia7 tests
Cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma3 tests
Candidiasis, familial, 92 tests
Capillary infantile hemangioma2 tests
Capillary malformation-arteriovenous malformation 14 tests
Capillary malformation-arteriovenous malformation 21 test
Carcinoma of pancreas8 tests
Cardiac anomalies - developmental delay - facial dysmorphism syndrome5 tests
Cardiac arrhythmia, ankyrin-B-related4 tests
Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies5 tests
Cardiac valvular dysplasia, X-linked1 test
Cardiac, facial, and digital anomalies with developmental delay3 tests
Cardiac-urogenital syndrome2 tests
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 110 tests
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 29 tests
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 34 tests
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 45 tests
Cardiofaciocutaneous syndrome 23 tests
Cardiofaciocutaneous syndrome 32 tests
Cardiofaciocutaneous syndrome 47 tests
Cardiomyopathy, dilated, 2E1 test
Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis4 tests
Cardiomyopathy, familial hypertrophic 271 test
Cardiomyopathy, familial restrictive, 11 test
Cardiomyopathy, familial restrictive, 31 test
Cardiomyopathy-hypotonia-lactic acidosis syndrome7 tests
Cardiospondylocarpofacial syndrome1 test
Carney complex - trismus - pseudocamptodactyly syndrome4 tests
Carney complex, type 12 tests
Carney-Stratakis syndrome5 tests
Carnitine acylcarnitine translocase deficiency7 tests
Carnitine palmitoyl transferase 1A deficiency8 tests
Carnitine palmitoyl transferase II deficiency, myopathic form1 test
Carnitine palmitoyl transferase II deficiency, neonatal form10 tests
Carnitine palmitoyl transferase II deficiency, severe infantile form1 test
Carotid intimal medial thickness 11 test
Carpal tunnel syndrome 11 test
Carpal tunnel syndrome 21 test
Cataract 1 multiple types2 tests
Cataract 10 multiple types2 tests
Cataract 11 multiple types2 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 types1 test
Cataract 17 multiple types2 tests
Cataract 182 tests
Cataract 19 multiple types3 tests
Cataract 2, multiple types2 tests
Cataract 20 multiple types2 tests
Cataract 21 multiple types1 test
Cataract 22 multiple types2 tests
Cataract 232 tests
Cataract 3 multiple types1 test
Cataract 302 tests
Cataract 31 multiple types2 tests
Cataract 331 test
Cataract 362 tests
Cataract 386 tests
Cataract 39 multiple types2 tests
Cataract 4 multiple types2 tests
Cataract 401 test
Cataract 411 test
Cataract 441 test
Cataract 46 juvenile-onset1 test
Cataract 5 multiple types2 tests
Cataract 6 multiple types2 tests
Cataract 9 multiple types2 tests
Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome7 tests
Catecholaminergic polymorphic ventricular tachycardia 11 test
Catecholaminergic polymorphic ventricular tachycardia 22 tests
Catecholaminergic polymorphic ventricular tachycardia 32 tests
Catecholaminergic polymorphic ventricular tachycardia 42 tests
Catecholaminergic polymorphic ventricular tachycardia 52 tests
Catel-Manzke syndrome2 tests
Cayman type cerebellar ataxia4 tests
Celiac disease, susceptibility to, 31 test
Celiac disease, susceptibility to, 42 tests
Cenani-Lenz syndactyly syndrome1 test
Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease14 tests
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 16 tests
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 26 tests
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 35 tests
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 45 tests
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome7 tests
Cerebellar ataxia-hypogonadism syndrome8 tests
Cerebellar atrophy with seizures and variable developmental delay2 tests
Cerebellar atrophy, developmental delay, and seizures4 tests
Cerebellar dysfunction with variable cognitive and behavioral abnormalities6 tests
Cerebral amyloid angiopathy, APP-related6 tests
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 12 tests
Cerebral cavernous malformation4 tests
Cerebral cavernous malformation 23 tests
Cerebral cavernous malformation 35 tests
Cerebral cavernous malformation 41 test
Cerebral folate transport deficiency5 tests
Cerebral palsy, spastic quadriplegic, 23 tests
Cerebrooculofacioskeletal syndrome 17 tests
Cerebrooculofacioskeletal syndrome 21 test
Cerebrooculofacioskeletal syndrome 31 test
Cerebrooculofacioskeletal syndrome 44 tests
Cerebroretinal microangiopathy with calcifications and cysts 110 tests
Cerebroretinal microangiopathy with calcifications and cysts 22 tests
Cernunnos-XLF deficiency7 tests
Ceroid lipofuscinosis, neuronal, 4 (Kufs type)9 tests
Ceroid lipofuscinosis, neuronal, 6A9 tests
Ceroid lipofuscinosis, neuronal, 6B (Kufs type)7 tests
Cervical cancer2 tests
Channelopathy-associated congenital insensitivity to pain, autosomal recessive1 test
Char syndrome3 tests
Charcot-Marie-Tooth disease X-linked dominant 18 tests
Charcot-Marie-Tooth disease X-linked dominant 64 tests
Charcot-Marie-Tooth disease X-linked recessive 41 test
Charcot-Marie-Tooth disease axonal type 2C1 test
Charcot-Marie-Tooth disease axonal type 2F3 tests
Charcot-Marie-Tooth disease axonal type 2K1 test
Charcot-Marie-Tooth disease axonal type 2L3 tests
Charcot-Marie-Tooth disease axonal type 2N1 test
Charcot-Marie-Tooth disease axonal type 2O1 test
Charcot-Marie-Tooth disease axonal type 2P3 tests
Charcot-Marie-Tooth disease axonal type 2Q4 tests
Charcot-Marie-Tooth disease axonal type 2S4 tests
Charcot-Marie-Tooth disease axonal type 2U1 test
Charcot-Marie-Tooth disease axonal type 2V1 test
Charcot-Marie-Tooth disease axonal type 2X10 tests
Charcot-Marie-Tooth disease dominant intermediate B1 test
Charcot-Marie-Tooth disease dominant intermediate C1 test
Charcot-Marie-Tooth disease dominant intermediate D1 test
Charcot-Marie-Tooth disease dominant intermediate E6 tests
Charcot-Marie-Tooth disease dominant intermediate F3 tests
Charcot-Marie-Tooth disease recessive intermediate A5 tests
Charcot-Marie-Tooth disease recessive intermediate B1 test
Charcot-Marie-Tooth disease recessive intermediate C1 test
Charcot-Marie-Tooth disease recessive intermediate D6 tests
Charcot-Marie-Tooth disease type 1B1 test
Charcot-Marie-Tooth disease type 1C4 tests
Charcot-Marie-Tooth disease type 1D5 tests
Charcot-Marie-Tooth disease type 1E2 tests
Charcot-Marie-Tooth disease type 2A11 test
Charcot-Marie-Tooth disease type 2A29 tests
Charcot-Marie-Tooth disease type 2B3 tests
Charcot-Marie-Tooth disease type 2B11 test
Charcot-Marie-Tooth disease type 2B27 tests
Charcot-Marie-Tooth disease type 2D1 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 2Y1 test
Charcot-Marie-Tooth disease type 4A1 test
Charcot-Marie-Tooth disease type 4B13 tests
Charcot-Marie-Tooth disease type 4B24 tests
Charcot-Marie-Tooth disease type 4B34 tests
Charcot-Marie-Tooth disease type 4C3 tests
Charcot-Marie-Tooth disease type 4D3 tests
Charcot-Marie-Tooth disease type 4E1 test
Charcot-Marie-Tooth disease type 4F3 tests
Charcot-Marie-Tooth disease type 4G2 tests
Charcot-Marie-Tooth disease type 4H3 tests
Charcot-Marie-Tooth disease type 4J1 test
Charcot-Marie-Tooth disease type 4K3 tests
Charcot-Marie-Tooth disease, axonal, Type 2HH1 test
Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;1 test
Charcot-Marie-Tooth disease, axonal, type 2EE1 test
Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive1 test
Charcot-Marie-Tooth disease, demyelinating, IIA 1H1 test
Charcot-Marie-Tooth disease, demyelinating, IIA 1I10 tests
Charcot-Marie-Tooth disease, type IA7 tests
Charcot-marie-tooth disease, axonal, type 2DD3 tests
Charlevoix-Saguenay spastic ataxia7 tests
Chilblain lupus 11 test
Chilblain lupus 21 test
Child syndrome8 tests
Childhood apraxia of speech3 tests
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency8 tests
Childhood hypophosphatasia1 test
Childhood onset GLUT1 deficiency syndrome 22 tests
Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder4 tests
Chitayat syndrome1 test
Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome1 test
Cholestanol storage disease13 tests
Cholestasis, intrahepatic, of pregnancy, 11 test
Cholestasis, intrahepatic, of pregnancy, 35 tests
Cholestasis, progressive familial intrahepatic, 121 test
Cholestasis, progressive familial intrahepatic, 45 tests
Cholestasis, progressive familial intrahepatic, 53 tests
Cholestasis-pigmentary retinopathy-cleft palate syndrome9 tests
Chondrocalcinosis 22 tests
Chondrodysplasia Blomstrand type1 test
Chondrodysplasia punctata 2 X-linked dominant6 tests
Chondrosarcoma2 tests
Chorea-acanthocytosis4 tests
Choroid plexus papilloma8 tests
Choroidal dystrophy, central areolar 21 test
Choroidal dystrophy, central areolar, 15 tests
Choroideremia4 tests
Christianson syndrome9 tests
Chromosome 15q13.3 microdeletion syndrome2 tests
Chromosome 1p32-p31 deletion syndrome3 tests
Chromosome 2p16.3 deletion syndrome1 test
Chromosome 2q32-q33 deletion syndrome5 tests
Chronic infantile neurological, cutaneous and articular syndrome1 test
Chronic myelogenous leukemia, BCR-ABL1 positive3 tests
Chronic myelomonocytic leukemia1 test
Chudley-McCullough syndrome3 tests
Chuvash polycythemia6 tests
Chédiak-Higashi syndrome13 tests
Ciliary dyskinesia, primary, 36, X-linked3 tests
Ciliary dyskinesia, primary, 373 tests
Ciliary dyskinesia, primary, 384 tests
Ciliary dyskinesia, primary, 393 tests
Ciliary dyskinesia, primary, 404 tests
Ciliary dyskinesia, primary, 421 test
Ciliary dyskinesia, primary, 432 tests
Ciliary dyskinesia, primary, 445 tests
Ciliary dyskinesia, primary, 453 tests
Cirrhosis, familial3 tests
Citrullinemia type I6 tests
Citrullinemia, type II, adult-onset10 tests
Clark-Baraitser syndrome3 tests
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency6 tests
Classic dopamine transporter deficiency syndrome5 tests
Classic homocystinuria10 tests
Cleft lip/palate-ectodermal dysplasia syndrome5 tests
Cleft palate with or without ankyloglossia, X-linked2 tests
Cleidocranial dysostosis3 tests
Clubfoot2 tests
Cobalamin C disease10 tests
Cobblestone lissencephaly without muscular or ocular involvement6 tests
Cockayne syndrome type 11 test
Cockayne syndrome type 21 test
Coenzyme Q10 deficiency, primary, 14 tests
Coenzyme Q10 deficiency, primary, 39 tests
Coffin-Lowry syndrome1 test
Coffin-Siris syndrome 13 tests
Coffin-Siris syndrome 51 test
Coffin-Siris syndrome 63 tests
Coffin-Siris syndrome 74 tests
Coffin-Siris syndrome 84 tests
Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome5 tests
Cognitive impairment with or without cerebellar ataxia1 test
Cohen syndrome8 tests
Colchicine resistance1 test
Cold-induced sweating syndrome 12 tests
Cole-Carpenter syndrome 15 tests
Cole-Carpenter syndrome 23 tests
Coloboma of optic nerve1 test
Coloboma, ocular, autosomal dominant1 test
Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness7 tests
Colobomatous microphthalmia-rhizomelic dysplasia syndrome3 tests
Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome3 tests
Colorectal cancer23 tests
Colorectal cancer, hereditary nonpolyposis, type 29 tests
Colorectal cancer, hereditary nonpolyposis, type 64 tests
Colorectal cancer, hereditary nonpolyposis, type 74 tests
Colorectal cancer, susceptibility to, 13 tests
Colorectal cancer, susceptibility to, 104 tests
Colorectal cancer, susceptibility to, 125 tests
Colton Blood group system2 tests
Combined PSAP deficiency1 test
Combined deficiency of sialidase AND beta galactosidase6 tests
Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia1 test
Combined immunodeficiency due to CD3gamma deficiency3 tests
Combined immunodeficiency due to DOCK8 deficiency7 tests
Combined immunodeficiency due to GINS1 deficiency2 tests
Combined immunodeficiency due to LRBA deficiency6 tests
Combined immunodeficiency due to MALT1 deficiency3 tests
Combined immunodeficiency due to STIM1 deficiency7 tests
Combined immunodeficiency due to STK4 deficiency2 tests
Combined immunodeficiency due to ZAP70 deficiency3 tests
Combined immunodeficiency due to moesin deficiency1 test
Combined immunodeficiency due to partial RAG1 deficiency1 test
Combined immunodeficiency with faciooculoskeletal anomalies1 test
Combined immunodeficiency with skin granulomas5 tests
Combined immunodeficiency, X-linked6 tests
Combined malonic and methylmalonic acidemia6 tests
Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 11 test
Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 21 test
Combined oxidative phosphorylation defect type 118 tests
Combined oxidative phosphorylation defect type 139 tests
Combined oxidative phosphorylation defect type 141 test
Combined oxidative phosphorylation defect type 151 test
Combined oxidative phosphorylation defect type 177 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 262 tests
Combined oxidative phosphorylation defect type 275 tests
Combined oxidative phosphorylation defect type 305 tests
Combined oxidative phosphorylation defect type 47 tests
Combined oxidative phosphorylation defect type 76 tests
Combined oxidative phosphorylation defect type 81 test
Combined oxidative phosphorylation defect type 96 tests
Combined oxidative phosphorylation deficiency 223 tests
Combined oxidative phosphorylation deficiency 286 tests
Combined oxidative phosphorylation deficiency 322 tests
Combined oxidative phosphorylation deficiency 332 tests
Combined oxidative phosphorylation deficiency 355 tests
Combined oxidative phosphorylation deficiency 362 tests
Combined oxidative phosphorylation deficiency 397 tests
Combined oxidative phosphorylation deficiency 448 tests
Combined pituitary hormone deficiencies, genetic form1 test
Complement component 2 deficiency1 test
Complement component 3 deficiency1 test
Complement component 5 deficiency1 test
Complement component 6 deficiency2 tests
Complement component 7 deficiency2 tests
Complement component 9 deficiency2 tests
Complement component C1s deficiency1 test
Complement factor b deficiency1 test
Complete trisomy 21 syndrome5 tests
Complex cortical dysplasia with other brain malformations 24 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 62 tests
Complex cortical dysplasia with other brain malformations 74 tests
Complex lethal osteochondrodysplasia1 test
Compton-North congenital myopathy2 tests
Cone dystrophy 32 tests
Cone dystrophy 42 tests
Cone dystrophy with supernormal rod response2 tests
Cone monochromatism1 test
Cone-rod dystrophy 102 tests
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 182 tests
Cone-rod dystrophy 192 tests
Cone-rod dystrophy 25 tests
Cone-rod dystrophy 202 tests
Cone-rod dystrophy 212 tests
Cone-rod dystrophy 31 test
Cone-rod dystrophy 53 tests
Cone-rod dystrophy 61 test
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 absence of salivary gland1 test
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency1 test
Congenital adrenal hypoplasia, X-linked1 test
Congenital adrenal insuffiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency5 tests
Congenital afibrinogenemia6 tests
Congenital amegakaryocytic thrombocytopenia1 test
Congenital anomalies of kidney and urinary tract 17 tests
Congenital anomalies of kidney and urinary tract 23 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 24 tests
Congenital bile acid synthesis defect 39 tests
Congenital bile acid synthesis defect 55 tests
Congenital brain dysgenesis due to glutamine synthetase deficiency4 tests
Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome3 tests
Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome6 tests
Congenital cataracts-facial dysmorphism-neuropathy syndrome3 tests
Congenital contractural arachnodactyly1 test
Congenital contractures of the limbs and face, hypotonia, and developmental delay1 test
Congenital diarrhea 5 with tufting enteropathy7 tests
Congenital diarrhea 62 tests
Congenital disorder of deglycosylation 17 tests
Congenital disorder of glycosylation type 1E6 tests
Congenital disorder of glycosylation type Ir4 tests
Congenital disorder of glycosylation with defective fucosylation 13 tests
Congenital disorder of glycosylation, type IAA2 tests
Congenital disorder of glycosylation, type ICC1 test
Congenital disorder of glycosylation, type IIr4 tests
Congenital disorder of glycosylation, type IIw1 test
Congenital disorder of glycosylation, type Iw, autosomal dominant1 test
Congenital dyserythropoietic anemia type 41 test
Congenital dyserythropoietic anemia type type 1B1 test
Congenital dyserythropoietic anemia, type II1 test
Congenital factor VII deficiency3 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 37 tests
Congenital generalized lipodystrophy type 45 tests
Congenital glucose-galactose malabsorption2 tests
Congenital heart defects and skeletal malformations syndrome1 test
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder1 test
Congenital heart defects, multiple types, 22 tests
Congenital heart defects, multiple types, 43 tests
Congenital heart defects, multiple types, 52 tests
Congenital heart defects, multiple types, 62 tests
Congenital heart defects, multiple types, 8, with or without heterotaxy2 tests
Congenital hereditary endothelial dystrophy of cornea1 test
Congenital hyperammonemia, type I1 test
Congenital hypotonia, epilepsy, developmental delay, and digital anomalies5 tests
Congenital hypotrichosis with juvenile macular dystrophy1 test
Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome1 test
Congenital isolated adrenocorticotropic hormone deficiency2 tests
Congenital lactase deficiency4 tests
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type9 tests
Congenital lipoid adrenal hyperplasia due to STAR deficency7 tests
Congenital macrodactylia1 test
Congenital malabsorptive diarrhea 46 tests
Congenital mesoblastic nephroma1 test
Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome4 tests
Congenital microvillous atrophy2 tests
Congenital multicore myopathy with external ophthalmoplegia5 tests
Congenital muscular dystrophy due to LMNA mutation1 test
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 syndrome4 tests
Congenital muscular hypertrophy-cerebral syndrome6 tests
Congenital myasthenic syndrome 106 tests
Congenital myasthenic syndrome 117 tests
Congenital myasthenic syndrome 128 tests
Congenital myasthenic syndrome 131 test
Congenital myasthenic syndrome 146 tests
Congenital myasthenic syndrome 151 test
Congenital myasthenic syndrome 161 test
Congenital myasthenic syndrome 171 test
Congenital myasthenic syndrome 183 tests
Congenital myasthenic syndrome 193 tests
Congenital myasthenic syndrome 1A1 test
Congenital myasthenic syndrome 204 tests
Congenital myasthenic syndrome 214 tests
Congenital myasthenic syndrome 2A1 test
Congenital myasthenic syndrome 2C6 tests
Congenital myasthenic syndrome 3B1 test
Congenital myasthenic syndrome 3C5 tests
Congenital myasthenic syndrome 4A1 test
Congenital myasthenic syndrome 4B7 tests
Congenital myasthenic syndrome 4C1 test
Congenital myasthenic syndrome 56 tests
Congenital myasthenic syndrome 74 tests
Congenital myasthenic syndrome 84 tests
Congenital myasthenic syndrome 91 test
Congenital myopathy 235 tests
Congenital myopathy 4B, autosomal recessive4 tests
Congenital myopathy with fiber type disproportion6 tests
Congenital myopathy with internal nuclei and atypical cores4 tests
Congenital myopathy with reduced type 2 muscle fibers3 tests
Congenital myotonia, autosomal dominant form1 test
Congenital myotonia, autosomal recessive form4 tests
Congenital neutropenia-myelofibrosis-nephromegaly syndrome3 tests
Congenital nongoitrous hypothryoidism 65 tests
Congenital nonprogressive myopathy with Moebius and Robin sequences3 tests
Congenital plasminogen activator inhibitor type 1 deficiency2 tests
Congenital prothrombin deficiency1 test
Congenital reticular ichthyosiform erythroderma1 test
Congenital secretory diarrhea, chloride type4 tests
Congenital secretory sodium diarrhea 34 tests
Congenital sensory neuropathy with selective loss of small myelinated fibers3 tests
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome8 tests
Congenital stationary night blindness 1C3 tests
Congenital stationary night blindness 2A1 test
Congenital stationary night blindness autosomal dominant 17 tests
Congenital stationary night blindness autosomal dominant 22 tests
Congenital vertical talus3 tests
Conotruncal heart malformations9 tests
Constitutional megaloblastic anemia with severe neurologic disease2 tests
Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A1 test
Contractures, pterygia, and variable skeletal fusions syndrome 1B1 test
Corneal dystrophy, Fuchs endothelial, 32 tests
Corneal dystrophy, Fuchs endothelial, 41 test
Corneal dystrophy-perceptive deafness syndrome2 tests
Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome1 test
Cornelia de Lange syndrome 18 tests
Cornelia de Lange syndrome 36 tests
Cornelia de Lange syndrome 44 tests
Cornelia de Lange syndrome 54 tests
Coronary heart disease, susceptibility to, 11 test
Coronary heart disease, susceptibility to, 61 test
Coronary heart disease, susceptibility to, 71 test
Corpus callosum agenesis-abnormal genitalia syndrome7 tests
Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome3 tests
Cortical dysplasia, complex, with other brain malformations 94 tests
Cortical dysplasia-focal epilepsy syndrome1 test
Corticosterone 18-monooxygenase deficiency6 tests
Corticosterone methyloxidase type 2 deficiency1 test
Cortisone reductase deficiency 12 tests
Cortisone reductase deficiency 24 tests
Costello syndrome13 tests
Cowden syndrome 17 tests
Cowden syndrome 53 tests
Cowden syndrome 63 tests
Cowden syndrome 74 tests
Craniodiaphyseal dysplasia, autosomal dominant1 test
Cranioectodermal dysplasia 13 tests
Cranioectodermal dysplasia 21 test
Cranioectodermal dysplasia 31 test
Cranioectodermal dysplasia 41 test
Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 15 tests
Craniofacial dysplasia - osteopenia syndrome2 tests
Craniofacial-deafness-hand syndrome1 test
Craniofrontonasal syndrome3 tests
Craniometaphyseal dysplasia, autosomal dominant6 tests
Craniosynostosis 22 tests
Craniosynostosis 41 test
Craniosynostosis 5, susceptibility to1 test
Craniosynostosis 64 tests
Craniosynostosis and dental anomalies2 tests
Creatine transporter deficiency7 tests
Crigler-Najjar syndrome type 11 test
Crigler-Najjar syndrome, type II1 test
Crouzon syndrome1 test
Crouzon syndrome-acanthosis nigricans syndrome1 test
Cryohydrocytosis1 test
Cryptorchidism1 test
Cryptosporidiosis-chronic cholangitis-liver disease syndrome2 tests
Curly hair, ankyloblepharon, nail dysplasia syndrome3 tests
Currarino triad1 test
Curry-Hall syndrome7 tests
Curry-Jones syndrome1 test
Cutaneous mastocytosis9 tests
Cutaneous porphyria5 tests
Cutis laxa with osteodystrophy1 test
Cutis laxa, X-linked1 test
Cutis laxa, autosomal dominant 11 test
Cutis laxa, autosomal dominant 27 tests
Cutis laxa, autosomal dominant 31 test
Cutis laxa, autosomal recessive, type 1A1 test
Cutis laxa, autosomal recessive, type 1B7 tests
Cyclical neutropenia1 test
Cystathioninuria2 tests
Cystic fibrosis11 tests
Cystic leukoencephalopathy without megalencephaly5 tests
Cystinuria7 tests
Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder2 tests
D,L-2-hydroxyglutaric aciduria5 tests
D-2-hydroxyglutaric aciduria 16 tests
D-2-hydroxyglutaric aciduria 22 tests
D-Glyceric aciduria4 tests
DDX41-related hematologic malignancy predisposition syndrome1 test
DE SANCTIS-CACCHIONE SYNDROME1 test
DEGCAGS syndrome3 tests
DK1-congenital disorder of glycosylation7 tests
DNA ligase IV deficiency4 tests
DOCK2 deficiency2 tests
DOORS syndrome1 test
DPAGT1-congenital disorder of glycosylation6 tests
DPM3-congenital disorder of glycosylation1 test
DYRK1A-related intellectual disability syndrome5 tests
Danon disease13 tests
DeSanto-Shinawi syndrome due to WAC point mutation3 tests
Deafness dystonia syndrome8 tests
Deafness with labyrinthine aplasia, microtia, and microdontia1 test
Deafness, X-linked 51 test
Deafness, autosomal dominant 39, with dentinogenesis imperfecta 11 test
Deafness, congenital heart defects, and posterior embryotoxon1 test
Deafness-encephaloneuropathy-obesity-valvulopathy syndrome6 tests
Deafness-lymphedema-leukemia syndrome4 tests
Deficiency of 2-methylbutyryl-CoA dehydrogenase6 tests
Deficiency of 3-hydroxyacyl-CoA dehydrogenase3 tests
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase9 tests
Deficiency of acetyl-CoA acetyltransferase8 tests
Deficiency of alpha-mannosidase7 tests
Deficiency of aromatic-L-amino-acid decarboxylase6 tests
Deficiency of beta-ureidopropionase4 tests
Deficiency of butyryl-CoA dehydrogenase7 tests
Deficiency of butyrylcholinesterase1 test
Deficiency of cytochrome-b5 reductase4 tests
Deficiency of ferroxidase8 tests
Deficiency of galactokinase6 tests
Deficiency of guanidinoacetate methyltransferase9 tests
Deficiency of hyaluronoglucosaminidase4 tests
Deficiency of hydroxymethylglutaryl-CoA lyase10 tests
Deficiency of iodide peroxidase4 tests
Deficiency of isobutyryl-CoA dehydrogenase5 tests
Deficiency of malonyl-CoA decarboxylase4 tests
Deficiency of phosphoserine phosphatase3 tests
Deficiency of ribose-5-phosphate isomerase5 tests
Deficiency of steroid 11-beta-monooxygenase9 tests
Deficiency of steroid 17-alpha-monooxygenase7 tests
Deficiency of transaldolase1 test
Dehydrated hereditary stomatocytosis 22 tests
Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema2 tests
Dejerine-Sottas disease5 tests
Delta-beta-thalassemia2 tests
Dent disease type 11 test
Dent disease type 211 tests
Dentatorubral-pallidoluysian atrophy2 tests
Denticles1 test
Dentinogenesis imperfecta type 23 tests
Dentinogenesis imperfecta type 31 test
Dermatofibrosis lenticularis disseminata2 tests
Desbuquois dysplasia 11 test
Desmin-related myofibrillar myopathy1 test
Desmoid disease, hereditary6 tests
Desmosterolosis7 tests
Developmental and epileptic encephalopathy 1014 tests
Developmental and epileptic encephalopathy 6B2 tests
Developmental and epileptic encephalopathy 896 tests
Developmental and epileptic encephalopathy 945 tests
Developmental and epileptic encephalopathy 981 test
Developmental and epileptic encephalopathy 991 test
Developmental and epileptic encephalopathy, 11 test
Developmental and epileptic encephalopathy, 111 test
Developmental and epileptic encephalopathy, 124 tests
Developmental and epileptic encephalopathy, 131 test
Developmental and epileptic encephalopathy, 141 test
Developmental and epileptic encephalopathy, 151 test
Developmental and epileptic encephalopathy, 161 test
Developmental and epileptic encephalopathy, 171 test
Developmental and epileptic encephalopathy, 183 tests
Developmental and epileptic encephalopathy, 191 test
Developmental and epileptic encephalopathy, 25 tests
Developmental and epileptic encephalopathy, 212 tests
Developmental and epileptic encephalopathy, 234 tests
Developmental and epileptic encephalopathy, 244 tests
Developmental and epileptic encephalopathy, 253 tests
Developmental and epileptic encephalopathy, 264 tests
Developmental and epileptic encephalopathy, 274 tests
Developmental and epileptic encephalopathy, 282 tests
Developmental and epileptic encephalopathy, 291 test
Developmental and epileptic encephalopathy, 35 tests
Developmental and epileptic encephalopathy, 303 tests
Developmental and epileptic encephalopathy, 313 tests
Developmental and epileptic encephalopathy, 325 tests
Developmental and epileptic encephalopathy, 335 tests
Developmental and epileptic encephalopathy, 344 tests
Developmental and epileptic encephalopathy, 351 test
Developmental and epileptic encephalopathy, 366 tests
Developmental and epileptic encephalopathy, 372 tests
Developmental and epileptic encephalopathy, 383 tests
Developmental and epileptic encephalopathy, 397 tests
Developmental and epileptic encephalopathy, 46 tests
Developmental and epileptic encephalopathy, 403 tests
Developmental and epileptic encephalopathy, 413 tests
Developmental and epileptic encephalopathy, 428 tests
Developmental and epileptic encephalopathy, 434 tests
Developmental and epileptic encephalopathy, 443 tests
Developmental and epileptic encephalopathy, 453 tests
Developmental and epileptic encephalopathy, 462 tests
Developmental and epileptic encephalopathy, 473 tests
Developmental and epileptic encephalopathy, 482 tests
Developmental and epileptic encephalopathy, 493 tests
Developmental and epileptic encephalopathy, 54 tests
Developmental and epileptic encephalopathy, 501 test
Developmental and epileptic encephalopathy, 513 tests
Developmental and epileptic encephalopathy, 523 tests
Developmental and epileptic encephalopathy, 531 test
Developmental and epileptic encephalopathy, 544 tests
Developmental and epileptic encephalopathy, 553 tests
Developmental and epileptic encephalopathy, 563 tests
Developmental and epileptic encephalopathy, 573 tests
Developmental and epileptic encephalopathy, 581 test
Developmental and epileptic encephalopathy, 593 tests
Developmental and epileptic encephalopathy, 603 tests
Developmental and epileptic encephalopathy, 613 tests
Developmental and epileptic encephalopathy, 623 tests
Developmental and epileptic encephalopathy, 633 tests
Developmental and epileptic encephalopathy, 643 tests
Developmental and epileptic encephalopathy, 653 tests
Developmental and epileptic encephalopathy, 662 tests
Developmental and epileptic encephalopathy, 673 tests
Developmental and epileptic encephalopathy, 683 tests
Developmental and epileptic encephalopathy, 694 tests
Developmental and epileptic encephalopathy, 71 test
Developmental and epileptic encephalopathy, 703 tests
Developmental and epileptic encephalopathy, 722 tests
Developmental and epileptic encephalopathy, 733 tests
Developmental and epileptic encephalopathy, 741 test
Developmental and epileptic encephalopathy, 756 tests
Developmental and epileptic encephalopathy, 761 test
Developmental and epileptic encephalopathy, 773 tests
Developmental and epileptic encephalopathy, 783 tests
Developmental and epileptic encephalopathy, 793 tests
Developmental and epileptic encephalopathy, 85 tests
Developmental and epileptic encephalopathy, 803 tests
Developmental and epileptic encephalopathy, 811 test
Developmental and epileptic encephalopathy, 823 tests
Developmental and epileptic encephalopathy, 833 tests
Developmental and epileptic encephalopathy, 85, with or without midline brain defects1 test
Developmental and epileptic encephalopathy, 95 tests
Developmental delay and seizures with or without movement abnormalities1 test
Developmental delay with autism spectrum disorder and gait instability3 tests
Developmental delay with or without dysmorphic facies and autism1 test
Developmental delay with or without intellectual impairment or behavioral abnormalities3 tests
Developmental delay with variable intellectual impairment and behavioral abnormalities3 tests
Developmental delay, hypotonia, and impaired language1 test
Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities1 test
Developmental malformations-deafness-dystonia syndrome1 test
DiGeorge syndrome1 test
Diabetes insipidus, nephrogenic, X-linked5 tests
Diabetes insipidus, nephrogenic, autosomal3 tests
Diabetes mellitus type 11 test
Diabetes mellitus, ketosis-prone1 test
Diabetes mellitus, permanent neonatal 22 tests
Diabetes mellitus, permanent neonatal 39 tests
Diabetes mellitus, permanent neonatal 44 tests
Diabetes mellitus, transient neonatal, 14 tests
Diabetes mellitus, transient neonatal, 22 tests
Diabetes mellitus, transient neonatal, 32 tests
Diamond-Blackfan anemia 13 tests
Diamond-Blackfan anemia 102 tests
Diamond-Blackfan anemia 121 test
Diamond-Blackfan anemia 131 test
Diamond-Blackfan anemia 15 with mandibulofacial dysostosis2 tests
Diamond-Blackfan anemia 32 tests
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 31 test
Diaphyseal dysplasia1 test
Diaphyseal medullary stenosis-bone malignancy syndrome2 tests
Dias-Logan syndrome5 tests
Diastrophic dysplasia1 test
Dicarboxylic aminoaciduria3 tests
Diencephalic-mesencephalic junction dysplasia syndrome 13 tests
Differentiated thyroid carcinoma1 test
Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome8 tests
Diffuse nonepidermolytic palmoplantar keratoderma2 tests
Dihydropteridine reductase deficiency6 tests
Dihydropyrimidinase deficiency3 tests
Dihydropyrimidine dehydrogenase deficiency8 tests
Dilated cardiomyopathy 1A1 test
Dilated cardiomyopathy 1AA1 test
Dilated cardiomyopathy 1BB2 tests
Dilated cardiomyopathy 1C6 tests
Dilated cardiomyopathy 1CC3 tests
Dilated cardiomyopathy 1D1 test
Dilated cardiomyopathy 1DD2 tests
Dilated cardiomyopathy 1E1 test
Dilated cardiomyopathy 1EE1 test
Dilated cardiomyopathy 1FF1 test
Dilated cardiomyopathy 1G1 test
Dilated cardiomyopathy 1GG1 test
Dilated cardiomyopathy 1HH1 test
Dilated cardiomyopathy 1I1 test
Dilated cardiomyopathy 1II1 test
Dilated cardiomyopathy 1J4 tests
Dilated cardiomyopathy 1JJ2 tests
Dilated cardiomyopathy 1KK1 test
Dilated cardiomyopathy 1L4 tests
Dilated cardiomyopathy 1M1 test
Dilated cardiomyopathy 1NN5 tests
Dilated cardiomyopathy 1O1 test
Dilated cardiomyopathy 1P1 test
Dilated cardiomyopathy 1R2 tests
Dilated cardiomyopathy 1S1 test
Dilated cardiomyopathy 1U1 test
Dilated cardiomyopathy 1V5 tests
Dilated cardiomyopathy 1W1 test
Dilated cardiomyopathy 1X1 test
Dilated cardiomyopathy 1Y1 test
Dilated cardiomyopathy 1Z1 test
Dilated cardiomyopathy 2A2 tests
Dilated cardiomyopathy 3B2 tests
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome1 test
Dimethylglycine dehydrogenase deficiency3 tests
Distal arthrogryposis type 2B14 tests
Distal arthrogryposis type 5D3 tests
Distal myopathy with anterior tibial onset1 test
Distal myopathy, Tateyama type4 tests
Dizygotic twins1 test
Dominant beta-thalassemia2 tests
Dominant dystrophic epidermolysis bullosa with absence of skin1 test
Donnai-Barrow syndrome6 tests
Dopa-responsive dystonia due to sepiapterin reductase deficiency7 tests
Dowling-Degos disease 11 test
Dowling-Degos disease 41 test
Doyne honeycomb retinal dystrophy2 tests
Drash syndrome3 tests
Duane retraction syndrome 21 test
Duane-radial ray syndrome6 tests
Dubin-Johnson syndrome5 tests
Duchenne muscular dystrophy2 tests
Dyggve-Melchior-Clausen syndrome2 tests
Dyschromatosis universalis hereditaria 11 test
Dyschromatosis universalis hereditaria 3