Emory Genetics Laboratory (Emory University)

General information

Emory Genetics Laboratory
Emory University
2165 North Decatur Road
Decatur
Georgia
United States - 30033
http://www.egl-eurofins.com/
Organization ID: 500060

Personnel

View this laboratory in GTR

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 30127

Gene

GeneSubmissionsLast Updated
A2ML12Nov 3, 2016
AARS8Nov 3, 2016
AARS24Nov 3, 2016
ABAT11Nov 3, 2016
ABCA33Nov 3, 2016
ABCA4119Nov 3, 2016
ABCB14Nov 3, 2016
ABCB1182Nov 3, 2016
ABCB457Nov 3, 2016
ABCC256Nov 3, 2016
ABCC67Nov 3, 2016
ABCC815Nov 3, 2016
ABCC97Nov 3, 2016
ABCD153Nov 3, 2016
ABCD41Nov 3, 2016
ABCG526Nov 3, 2016
ABCG835Nov 3, 2016
ABHD126Nov 3, 2016
ACAD113May 6, 2014
ACAD820Nov 3, 2016
ACAD94Nov 3, 2016
ACADM66Nov 3, 2016
ACADS7Nov 3, 2016
ACADSB2Nov 3, 2016
ACADVL79Nov 3, 2016
ACAN19Nov 3, 2016
ACAT131Nov 3, 2016
ACP11Nov 3, 2016
ACP53Nov 3, 2016
ACSF31Nov 3, 2016
ACSL44Nov 3, 2016
ACTA115Nov 3, 2016
ACTA22Nov 3, 2016
ACTB3Nov 3, 2016
ACTC11Nov 3, 2016
ACTG112Nov 3, 2016
ACTN22Nov 3, 2016
ACVR12Nov 3, 2016
ACVRL12Nov 3, 2016
ACY13Nov 3, 2016
ADA1Nov 3, 2016
ADAM93Nov 3, 2016
ADAMTS101Nov 3, 2016
ADAMTS210Nov 3, 2016
ADAMTSL42Nov 3, 2016
ADAR8Nov 3, 2016
ADCY51Nov 3, 2016
ADGRG120Nov 3, 2016
ADGRV1227Nov 3, 2016
ADNP1Nov 3, 2016
ADSL20Nov 3, 2016
AFF224Nov 3, 2016
AFG3L24Nov 3, 2016
AGA7Nov 3, 2016
AGAP31Nov 3, 2016
AGL30Nov 3, 2016
AGPAT22Nov 3, 2016
AGPS4Nov 3, 2016
AGRN3Nov 3, 2016
AGTR24Nov 3, 2016
AGXT11Nov 3, 2016
AHDC11Nov 3, 2016
AHI125Nov 3, 2016
AICDA2Nov 3, 2016
AIPL122Nov 3, 2016
AIRE11Nov 3, 2016
AKAP913Nov 3, 2016
AKR1D17Nov 3, 2016
AKT21Nov 3, 2016
ALDH3A24Nov 3, 2016
ALDH5A118Nov 3, 2016
ALDH7A113Nov 3, 2016
ALDOB8Nov 3, 2016
ALG126Nov 3, 2016
ALG117Nov 3, 2016
ALG1211Nov 3, 2016
ALG135Nov 3, 2016
ALG141Nov 3, 2016
ALG26Nov 3, 2016
ALG31Nov 3, 2016
ALG67Nov 3, 2016
ALG89Nov 3, 2016
ALG97Nov 3, 2016
ALK3Nov 3, 2016
ALMS119Nov 3, 2016
ALPL23Nov 3, 2016
ALS21Nov 3, 2016
ALX11Nov 3, 2016
AMPD132Nov 3, 2016
AMPD21Nov 3, 2016
AMPD38Nov 3, 2016
ANG1Nov 3, 2016
ANK27Nov 3, 2016
ANKH5Nov 3, 2016
ANKRD15Nov 3, 2016
ANKRD111Nov 3, 2016
ANO5184Nov 3, 2016
AP1S21Nov 3, 2016
AP3B12Nov 3, 2016
APC45Nov 3, 2016
APOB1Nov 3, 2016
APOE2Nov 3, 2016
APTX9Nov 3, 2016
AQP21Nov 3, 2016
AR1Nov 3, 2016
ARFGEF26Nov 3, 2016
ARHGAP3121Nov 3, 2016
ARHGEF62Nov 3, 2016
ARHGEF93Nov 3, 2016
ARID1A3Nov 3, 2016
ARID1B2Nov 3, 2016
ARID4A1Nov 3, 2016
ARL13B4Nov 3, 2016
ARL61Nov 3, 2016
ARMC41Nov 3, 2016
ARSA57Nov 3, 2016
ARSB17Nov 3, 2016
ARX38Nov 3, 2016
ASAH14Nov 3, 2016
ASCL14Nov 3, 2016
ASL24Nov 3, 2016
ASMT1Nov 3, 2016
ASPA6Nov 3, 2016
ASPM94Nov 3, 2016
ASS126Nov 3, 2016
ASXL18Nov 3, 2016
ASXL33Nov 3, 2016
ATG16L12Nov 3, 2016
ATL12Nov 3, 2016
ATM43Nov 3, 2016
ATP13A211Nov 3, 2016
ATP1A219Nov 3, 2016
ATP1A35Nov 3, 2016
ATP2A17Nov 3, 2016
ATP6AP27Nov 3, 2016
ATP6V0A230Nov 3, 2016
ATP6V1B14Nov 3, 2016
ATP7A22Nov 3, 2016
ATP7B49Nov 3, 2016
ATP8B144Nov 3, 2016
ATPAF21Nov 3, 2016
ATR10Nov 3, 2016
ATRX55Nov 3, 2016
ATXN102Nov 3, 2016
AUH3Nov 3, 2016
AURKC1Nov 3, 2016
AXIN21Nov 3, 2016
B3GALT610Nov 3, 2016
B3GAT31Nov 3, 2016
B3GLCT23Nov 3, 2016
B4GALT15Nov 3, 2016
B4GALT77Nov 3, 2016
B9D21Nov 3, 2016
BAAT15Nov 3, 2016
BAG312Nov 3, 2016
BAP11Nov 3, 2016
BBS117Nov 3, 2016
BBS1014Nov 3, 2016
BBS1218Nov 3, 2016
BBS214Nov 3, 2016
BBS414Nov 3, 2016
BBS54Nov 3, 2016
BBS711Nov 3, 2016
BBS917Nov 3, 2016
BCKDHA92Nov 3, 2016
BCKDHB98Nov 3, 2016
BCKDK16Nov 3, 2016
BCOR29Nov 3, 2016
BCS1L3Nov 3, 2016
BEST122Nov 3, 2016
BIN115Nov 3, 2016
BLM29Nov 3, 2016
BLOC1S34Nov 3, 2016
BMP12Nov 3, 2016
BMP26Nov 3, 2016
BMP42Nov 3, 2016
BMPR1A1Nov 3, 2016
BMPR1B4Nov 3, 2016
BMPR22Nov 3, 2016
BRAF26Nov 3, 2016
BRCA184Nov 3, 2016
BRCA2138Nov 3, 2016
BRIP12Nov 3, 2016
BRWD37Nov 3, 2016
BSCL26Nov 3, 2016
BSND6Nov 3, 2016
BTD47Nov 3, 2016
BTK4Nov 3, 2016
C19orf123Nov 3, 2016
C1QTNF513Nov 3, 2016
C2CD32Nov 3, 2016
C2orf7138Nov 3, 2016
C5orf4233Nov 3, 2016
C8orf372Nov 3, 2016
CA24Nov 3, 2016
CA41Nov 3, 2016
CABP47Nov 3, 2016
CACNA1A67Nov 3, 2016
CACNA1C92Nov 3, 2016
CACNA1D1Nov 3, 2016
CACNA1F24Nov 3, 2016
CACNA1H22Nov 3, 2016
CACNA1S2Nov 3, 2016
CACNA2D420Nov 3, 2016
CACNB22Nov 3, 2016
CACNB413Nov 3, 2016
CAMTA11Nov 3, 2016
CANT113Nov 3, 2016
CAPN3329Nov 3, 2016
CASK26Nov 3, 2016
CASQ25Nov 3, 2016
CASR20Nov 3, 2016
CAV328Nov 3, 2016
CAVIN16Nov 3, 2016
CBL5Nov 3, 2016
CBS42Nov 3, 2016
CC2D2A73Nov 3, 2016
CCDC1031Nov 3, 2016
CCDC1144Nov 3, 2016
CCDC2212Nov 3, 2016
CCDC28B2Nov 3, 2016
CCDC396Nov 3, 2016
CCDC4020Nov 3, 2016
CCDC502Nov 3, 2016
CCM21Nov 3, 2016
CD361Nov 3, 2016
CD40LG3Nov 3, 2016
CDC733Nov 3, 2016
CDH15Nov 3, 2016
CDH23115Nov 3, 2016
CDH317Nov 3, 2016
CDHR116Nov 3, 2016
CDK165Nov 3, 2016
CDK5RAP23Nov 3, 2016
CDKL538Nov 3, 2016
CDKN1C8Nov 3, 2016
CDKN2A3Nov 3, 2016
CDON4Nov 3, 2016
CDT11Nov 3, 2016
CEACAM164Nov 3, 2016
CEL1Nov 3, 2016
CENPE1Nov 3, 2016
CENPJ33Nov 3, 2016
CEP1356Nov 3, 2016
CEP1528Nov 3, 2016
CEP1645Nov 3, 2016
CEP29089Nov 3, 2016
CEP411Nov 3, 2016
CEP631Nov 3, 2016
CERKL15Nov 3, 2016
CFH1Nov 3, 2016
CFI1Nov 3, 2016
CFL21Nov 3, 2016
CFTR231Nov 3, 2016
CHAT21Nov 3, 2016
CHD7146Nov 3, 2016
CHD827Nov 3, 2016
CHM8Nov 3, 2016
CHMP1A3Nov 3, 2016
CHMP2B2Nov 3, 2016
CHRNA16Nov 3, 2016
CHRNA216Nov 3, 2016
CHRNA439Nov 3, 2016
CHRNB14Nov 3, 2016
CHRNB29Nov 3, 2016
CHRND19Nov 3, 2016
CHRNE15Nov 3, 2016
CHRNG11Nov 3, 2016
CHST148Nov 3, 2016
CHST312Nov 3, 2016
CHST62Nov 3, 2016
CHSY19Nov 3, 2016
CIB25Nov 3, 2016
CISD21Nov 3, 2016
CLCN15Nov 3, 2016
CLCN41Nov 3, 2016
CLCN52Nov 3, 2016
CLCN78Nov 3, 2016
CLDN17Nov 3, 2016
CLDN145Nov 3, 2016
CLDN161Nov 3, 2016
CLIC22Nov 3, 2016
CLN318Nov 3, 2016
CLN520Nov 3, 2016
CLN613Nov 3, 2016
CLN817Nov 3, 2016
CLPB1Nov 3, 2016
CLRN14Nov 3, 2016
CNGA18Nov 3, 2016
CNGA314Nov 3, 2016
CNGB137Nov 3, 2016
CNGB319Nov 3, 2016
CNKSR25Nov 3, 2016
CNNM45Nov 3, 2016
CNTN41Nov 3, 2016
CNTNAP290Nov 3, 2016
COA51Nov 3, 2016
COCH6Nov 3, 2016
COG115Nov 3, 2016
COG49Nov 3, 2016
COG57Nov 3, 2016
COG613Nov 3, 2016
COG75Nov 3, 2016
COG86Nov 3, 2016
COL10A16Nov 3, 2016
COL11A147Nov 3, 2016
COL11A249Nov 3, 2016
COL18A12Nov 3, 2016
COL1A173Nov 3, 2016
COL1A231Nov 3, 2016
COL2A194Nov 3, 2016
COL3A112Nov 3, 2016
COL4A123Nov 3, 2016
COL4A21Nov 3, 2016
COL4A31Nov 3, 2016
COL4A58Nov 3, 2016
COL5A136Nov 3, 2016
COL5A216Nov 3, 2016
COL6A1349Nov 3, 2016
COL6A2383Nov 3, 2016
COL6A3558Nov 3, 2016
COL6A62Nov 3, 2016
COL7A13Nov 3, 2016
COL9A124Nov 3, 2016
COL9A219Nov 3, 2016
COL9A326Nov 3, 2016
COLQ10Nov 3, 2016
COMP7Nov 3, 2016
COQ21Nov 3, 2016
COQ8A6Nov 3, 2016
COX102Nov 3, 2016
COX151Nov 3, 2016
COX4I22Nov 3, 2016
CP10Nov 3, 2016
CPA612Nov 3, 2016
CPOX1Nov 3, 2016
CPS17Nov 3, 2016
CPT1A28Nov 3, 2016
CPT221Nov 3, 2016
CRB135Nov 3, 2016
CREBBP111Nov 3, 2016
CRELD13Nov 3, 2016
CRTAP7Nov 3, 2016
CRX8Nov 3, 2016
CRYAB3Nov 3, 2016
CRYM3Nov 3, 2016
CSF2RA1Nov 3, 2016
CSMD11Nov 3, 2016
CSPP11Nov 3, 2016
CSRP31Nov 3, 2016
CSTB4Nov 3, 2016
CTDP18Nov 3, 2016
CTNS9Nov 3, 2016
CTSA1Nov 3, 2016
CTSC3Nov 3, 2016
CTSD11Nov 3, 2016
CTSF2Nov 3, 2016
CTSK3Nov 3, 2016
CUBN3Nov 3, 2016
CUL4B4Nov 3, 2016
CUL752Nov 3, 2016
CYBA8Nov 3, 2016
CYP1B123Nov 3, 2016
CYP21A210Nov 3, 2016
CYP24A11Nov 3, 2016
CYP27A133Nov 3, 2016
CYP2C196Nov 3, 2016
CYP2C94Nov 3, 2016
CYP2D61Nov 3, 2016
CYP4V211Nov 3, 2016
CYP7A110Nov 3, 2016
CYP7B110Nov 3, 2016
DAG172Nov 3, 2016
DARS21Nov 3, 2016
DBH1Nov 3, 2016
DBT65Nov 3, 2016
DCAF172Nov 3, 2016
DCHS12Nov 3, 2016
DCLRE1C7Nov 3, 2016
DCTN18Nov 3, 2016
DCX6Nov 3, 2016
DDC2Nov 3, 2016
DDOST6Nov 3, 2016
DDR27Nov 3, 2016
DDX3X1Nov 3, 2016
DES79Nov 3, 2016
DFNA53Nov 3, 2016
DFNB594Nov 3, 2016
DGKE2Nov 3, 2016
DGUOK11Nov 3, 2016
DHCR246Nov 3, 2016
DHCR771Nov 3, 2016
DHDDS4Nov 3, 2016
DHFR1Nov 3, 2016
DHODH1Nov 3, 2016
DIABLO1Nov 3, 2016
DIAPH113Nov 3, 2016
DIAPH31Nov 3, 2016
DIP2B1Nov 3, 2016
DIS3L21Nov 3, 2016
DISP11Nov 3, 2016
DKC15Nov 3, 2016
DLAT3Nov 3, 2016
DLD3Nov 3, 2016
DLG39Nov 3, 2016
DLL33Nov 3, 2016
DLX35Nov 3, 2016
DMD1170Nov 3, 2016
DMP15Nov 3, 2016
DNAAF18Nov 3, 2016
DNAAF28Nov 3, 2016
DNAAF37Nov 3, 2016
DNAH11Nov 3, 2016
DNAH1149Nov 3, 2016
DNAH530Nov 3, 2016
DNAI17Nov 3, 2016
DNAI29Nov 3, 2016
DNAJB21Nov 3, 2016
DNAJB649Nov 3, 2016
DNAJC31Nov 3, 2016
DNAJC55Nov 3, 2016
DNAL12Nov 3, 2016
DNASE1L31Nov 3, 2016
DNM211Nov 3, 2016
DNMT118Nov 3, 2016
DNMT3A1Nov 3, 2016
DOCK62Nov 3, 2016
DOCK83Nov 3, 2016
DOK731Nov 3, 2016
DOLK6Nov 3, 2016
DPAGT14Nov 3, 2016
DPM12Nov 3, 2016
DPM22Nov 3, 2016
DPYD7Nov 3, 2016
DPYS1Nov 3, 2016
DRC11Nov 3, 2016
DRD26Nov 3, 2016
DRD51Nov 3, 2016
DSC24Nov 3, 2016
DSG28Nov 3, 2016
DSP16Nov 3, 2016
DSPP18Nov 3, 2016
DST1Nov 3, 2016
DUOX21Nov 3, 2016
DYM12Nov 3, 2016
DYNC1H115Nov 3, 2016
DYNC2H175Nov 3, 2016
DYRK1A2Nov 3, 2016
DYSF718Nov 3, 2016
EARS23Nov 3, 2016
EDA5Nov 3, 2016
EDAR6Nov 3, 2016
EDARADD1Nov 3, 2016
EFEMP18Nov 3, 2016
EFEMP21Nov 3, 2016
EFHC117Nov 3, 2016
EFHC22Nov 3, 2016
EGR23Nov 3, 2016
EHHADH1Nov 3, 2016
EHMT174Nov 3, 2016
EIF2AK37Nov 3, 2016
EIF2B12Nov 3, 2016
EIF2B34Nov 3, 2016
EIF2B45Nov 3, 2016
EIF2B55Nov 3, 2016
ELANE1Nov 3, 2016
ELN6Nov 3, 2016
ELOVL44Nov 3, 2016
EMC41Nov 3, 2016
EMD32Nov 3, 2016
EMX23Nov 3, 2016
ENG10Nov 3, 2016
ENPP115Nov 3, 2016
EOMES4Nov 3, 2016
EP30047Nov 3, 2016
EPG51Nov 3, 2016
EPM2A15Nov 3, 2016
ERAP21Nov 3, 2016
ERCC42Nov 3, 2016
ERCC51Nov 3, 2016
ERCC629Nov 3, 2016
ERCC810Nov 3, 2016
ERLIN21Nov 3, 2016
ESCO29Nov 3, 2016
ESRRB4Nov 3, 2016
ETFA6Nov 3, 2016
ETFB3Nov 3, 2016
ETFDH15Nov 3, 2016
EVC34Nov 3, 2016
EVC236Nov 3, 2016
EXT15Nov 3, 2016
EXT211Nov 3, 2016
EYA13Nov 3, 2016
EYA41Nov 3, 2016
EYS70Nov 3, 2016
EZH23Nov 3, 2016
F115Nov 3, 2016
F71Nov 3, 2016
F92Nov 3, 2016
FA2H2Nov 3, 2016
FAAH22Nov 3, 2016
FAH24Nov 3, 2016
FAM126A1Nov 3, 2016
FAM161A14Nov 3, 2016
FAM20C16Nov 3, 2016
FANCA2Nov 3, 2016
FANCB8Nov 3, 2016
FANCC5Nov 3, 2016
FANCI3Nov 3, 2016
FANCL1Nov 3, 2016
FAR11Nov 3, 2016
FASTKD26Nov 3, 2016
FBLN111Nov 3, 2016
FBLN52Nov 3, 2016
FBN152Nov 3, 2016
FBN231Nov 3, 2016
FBP11Nov 3, 2016
FBXL41Nov 3, 2016
FBXO71Nov 3, 2016
FBXW410Nov 3, 2016
FERMT310Nov 3, 2016
FGD147Nov 3, 2016
FGD45Nov 3, 2016
FGF102Nov 3, 2016
FGF231Nov 3, 2016
FGF31Nov 3, 2016
FGFR110Nov 3, 2016
FGFR214Nov 3, 2016
FGFR332Nov 3, 2016
FH29Nov 3, 2016
FHL129Nov 3, 2016
FIG47Nov 3, 2016
FIGLA2Nov 3, 2016
FKBP1012Nov 3, 2016
FKRP106Nov 3, 2016
FKTN74Nov 3, 2016
FLCN31Nov 3, 2016
FLNA137Nov 3, 2016
FLNB40Nov 3, 2016
FLNC57Nov 3, 2016
FLVCR13Nov 3, 2016
FLVCR24Nov 3, 2016
FMN123Nov 3, 2016
FMN23Nov 3, 2016
FMR111Nov 3, 2016
FOLR114Nov 3, 2016
FOXC125Nov 3, 2016
FOXE14Nov 3, 2016
FOXE312Nov 3, 2016
FOXG126Nov 3, 2016
FOXH112Nov 3, 2016
FOXI15Nov 3, 2016
FOXN11Nov 3, 2016
FOXP118Nov 3, 2016
FOXP228Nov 3, 2016
FOXP31Nov 3, 2016
FOXRED15Nov 3, 2016
FRAS161Nov 3, 2016
FREM123Nov 3, 2016
FREM247Nov 3, 2016
FREM31Nov 3, 2016
FRMPD49Nov 3, 2016
FSCN222Nov 3, 2016
FSHR1Nov 3, 2016
FTCD24Nov 3, 2016
FTH14Nov 3, 2016
FTSJ12Nov 3, 2016
FUCA15Nov 3, 2016
FXN3Nov 3, 2016
FZD45Nov 3, 2016
G6PC9Nov 3, 2016
G6PD65Nov 3, 2016
GAA231Nov 3, 2016
GABRA115Nov 3, 2016
GABRB31Nov 3, 2016
GABRG27Nov 3, 2016
GABRP1Nov 3, 2016
GALC44Nov 3, 2016
GALE27Nov 3, 2016
GALK13Nov 3, 2016
GALNS57Nov 3, 2016
GALNT35Nov 3, 2016
GALT111Nov 3, 2016
GAMT6Nov 3, 2016
GAN2Nov 3, 2016
GARS5Nov 3, 2016
GATA61Nov 3, 2016
GATAD14Nov 3, 2016
GATM2Nov 3, 2016
GBA69Nov 3, 2016
GBE15Nov 3, 2016
GCDH31Nov 3, 2016
GCH12Nov 3, 2016
GCK7Nov 3, 2016
GDF16Nov 3, 2016
GDF56Nov 3, 2016
GDF61Nov 3, 2016
GDI14Nov 3, 2016
GDNF2Nov 3, 2016
GFPT12Nov 3, 2016
GH19Nov 3, 2016
GHR11Nov 3, 2016
GHRHR9Nov 3, 2016
GIPC37Nov 3, 2016
GJB13Nov 3, 2016
GJB259Nov 3, 2016
GJB39Nov 3, 2016
GJB44Nov 3, 2016
GJB610Nov 3, 2016
GK2Nov 3, 2016
GLA118Nov 3, 2016
GLB1117Nov 3, 2016
GLDC1Nov 3, 2016
GLE110Nov 3, 2016
GLI237Nov 3, 2016
GLI330Nov 3, 2016
GLIS211Nov 3, 2016
GLIS33Nov 3, 2016
GM2A4Nov 3, 2016
GMPPA1Nov 3, 2016
GMPPB1Nov 3, 2016
GNAO11Nov 3, 2016
GNAS11Nov 3, 2016
GNAT11Nov 3, 2016
GNAT23Nov 3, 2016
GNE86Nov 3, 2016
GNPTAB37Nov 3, 2016
GNS4Nov 3, 2016
GORAB3Nov 3, 2016
GOSR28Nov 3, 2016
GP1BB2Nov 3, 2016
GP61Nov 3, 2016
GP93Nov 3, 2016
GPC35Nov 3, 2016
GPC64Nov 3, 2016
GPD1L1Nov 3, 2016
GPIHBP11Nov 3, 2016
GPR1433Nov 3, 2016
GPR17920Nov 3, 2016
GPSM21Nov 3, 2016
GREM13Nov 3, 2016
GRHL22Nov 3, 2016
GRHL31Nov 3, 2016
GRHPR1Nov 3, 2016
GRIA35Nov 3, 2016
GRIN2A19Nov 3, 2016
GRIN2B2Nov 3, 2016
GRIP16Nov 3, 2016
GRM628Nov 3, 2016
GRN4Nov 3, 2016
GRXCR11Nov 3, 2016
GSPT22Nov 3, 2016
GTF2H51Nov 3, 2016
GUCA1A5Nov 3, 2016
GUCA1B4Nov 3, 2016
GUCY2D29Nov 3, 2016
GUSB18Nov 3, 2016
GYS12Nov 3, 2016
GYS21Nov 3, 2016
HADH2Nov 3, 2016
HADHA19Nov 3, 2016
HADHB5Nov 3, 2016
HARS3Nov 3, 2016
HARS23Nov 3, 2016
HBB7Nov 3, 2016
HCCS4Nov 3, 2016
HCFC119Nov 3, 2016
HCN116Nov 3, 2016
HCN450Nov 3, 2016
HDAC427Nov 3, 2016
HES74Nov 3, 2016
HESX14Nov 3, 2016
HEXA19Nov 3, 2016
HEXB37Nov 3, 2016
HFE4Nov 3, 2016
HGF5Nov 3, 2016
HGSNAT8Nov 3, 2016
HLCS3Nov 3, 2016
HMBS2Nov 3, 2016
HMCN18Nov 3, 2016
HMGCL5Nov 3, 2016
HNF1A4Nov 3, 2016
HNF1B16Nov 3, 2016
HNF4A1Nov 3, 2016
HOXA11Nov 3, 2016
HOXB11Nov 3, 2016
HOXD133Nov 3, 2016
HPGD2Nov 3, 2016
HPRT115Nov 3, 2016
HPS114Nov 3, 2016
HPS31Nov 3, 2016
HPS46Nov 3, 2016
HPS51Nov 3, 2016
HPS68Nov 3, 2016
HRAS4Nov 3, 2016
HSD17B102Nov 3, 2016
HSD17B413Nov 3, 2016
HSD3B715Nov 3, 2016
HSPB14Nov 3, 2016
HSPB81Nov 3, 2016
HSPG283Nov 3, 2016
HUWE111Nov 3, 2016
HYLS12Nov 3, 2016
ICK5Nov 3, 2016
ICOS1Nov 3, 2016
IDH3B5Nov 3, 2016
IDS36Nov 3, 2016
IDUA68Nov 3, 2016
IFIH11Nov 3, 2016
IFITM55Nov 3, 2016
IFT12220Nov 3, 2016
IFT14020Nov 3, 2016
IFT808Nov 3, 2016
IGBP11Nov 3, 2016
IGF13Nov 3, 2016
IGF1R30Nov 3, 2016
IGHMBP234Nov 3, 2016
IHH7Nov 3, 2016
IKBKAP8Nov 3, 2016
IL10RA6Nov 3, 2016
IL12RB11Nov 3, 2016
IL1RAPL11Nov 3, 2016
IL2RA3Nov 3, 2016
ILDR17Nov 3, 2016
IMPDH117Nov 3, 2016
IMPG213Nov 3, 2016
INF24Nov 3, 2016
INPP5E3Nov 3, 2016
INSR24Nov 3, 2016
INVS38Nov 3, 2016
IQCB119Nov 3, 2016
IQSEC215Nov 3, 2016
ISPD71Nov 3, 2016
ITGA745Nov 3, 2016
ITGA91Nov 3, 2016
ITGAM1Nov 3, 2016
ITPR111Nov 3, 2016
IVD28Nov 3, 2016
JAG147Nov 3, 2016
JPH27Nov 3, 2016
JUP2Nov 3, 2016
KANK12Nov 3, 2016
KANSL12Nov 3, 2016
KCNA19Nov 3, 2016
KCNA51Nov 3, 2016
KCNC35Nov 3, 2016
KCNE15Nov 3, 2016
KCNH28Nov 3, 2016
KCNJ1015Nov 3, 2016
KCNJ1113Nov 3, 2016
KCNJ133Nov 3, 2016
KCNJ23Nov 3, 2016
KCNJ81Nov 3, 2016
KCNMA129Nov 3, 2016
KCNQ112Nov 3, 2016
KCNQ242Nov 3, 2016
KCNQ313Nov 3, 2016
KCNQ43Nov 3, 2016
KCNT162Nov 3, 2016
KCNV220Nov 3, 2016
KCTD75Nov 3, 2016
KDM5C26Nov 3, 2016
KDM6A16Nov 3, 2016
KIAA05861Nov 3, 2016
KIAA14621Nov 3, 2016
KIAA20224Nov 3, 2016
KIF111Nov 3, 2016
KIF142Nov 3, 2016
KIF1A10Nov 3, 2016
KIF1B15Nov 3, 2016
KIF1BP3Nov 3, 2016
KIF2210Nov 3, 2016
KIF4A1Nov 3, 2016
KIF5A5Nov 3, 2016
KIF767Nov 3, 2016
KIRREL31Nov 3, 2016
KISS1R2Nov 3, 2016
KIT2Nov 3, 2016
KLHL75Nov 3, 2016
KLK41Nov 3, 2016
KMT2A1Nov 3, 2016
KMT2D308Nov 3, 2016
KNL12Nov 3, 2016
KRAS8Nov 3, 2016
KRIT12Nov 3, 2016
L1CAM46Nov 3, 2016
L2HGDH2Nov 3, 2016
LAMA15Nov 3, 2016
LAMA2166Nov 3, 2016
LAMA35Nov 3, 2016
LAMA44Nov 3, 2016
LAMB34Nov 3, 2016
LAMC29Nov 3, 2016
LAMC323Nov 3, 2016
LAMP26Nov 3, 2016
LARGE140Nov 3, 2016
LCA58Nov 3, 2016
LDB315Nov 3, 2016
LEMD39Nov 3, 2016
LFNG2Nov 3, 2016
LGI12Nov 3, 2016
LHCGR1Nov 3, 2016
LHX37Nov 3, 2016
LIAS1Nov 3, 2016
LIFR9Nov 3, 2016
LIG41Nov 3, 2016
LIPA14Nov 3, 2016
LIPH1Nov 3, 2016
LIPT11Nov 3, 2016
LMBR14Nov 3, 2016
LMNA123Nov 3, 2016
LMX1B1Nov 3, 2016
LOXHD132Nov 3, 2016
LPIN13Nov 3, 2016
LRAT3Nov 3, 2016
LRBA22Nov 3, 2016
LRIT311Nov 3, 2016
LRMDA4Nov 3, 2016
LRP24Nov 3, 2016
LRP419Nov 3, 2016
LRP553Nov 3, 2016
LRPPRC4Nov 3, 2016
LRRK21Nov 3, 2016
LRSAM11Nov 3, 2016
LRTOMT3Nov 3, 2016
LTBP26Nov 3, 2016
LTBP43Nov 3, 2016
LZTFL11Nov 3, 2016
LZTR11Nov 3, 2016
MAFB2Nov 3, 2016
MAGEL233Nov 3, 2016
MAGI233Nov 3, 2016
MAGT13Nov 3, 2016
MAK7Nov 3, 2016
MAN1B12Nov 3, 2016
MAN2B127Nov 3, 2016
MANBA7Nov 3, 2016
MAOA5Nov 3, 2016
MAP2K15Nov 3, 2016
MAP2K28Nov 3, 2016
MARVELD29Nov 3, 2016
MASP111Nov 3, 2016
MAT1A5Nov 3, 2016
MATN310Nov 3, 2016
MBD540Nov 3, 2016
MBTPS28Nov 3, 2016
MCCC130Nov 3, 2016
MCCC223Nov 3, 2016
MCEE1Nov 3, 2016
MCOLN19Nov 3, 2016
MCPH138Nov 3, 2016
MECP294Nov 3, 2016
MED1231Nov 3, 2016
MED13L1Nov 3, 2016
MED254Nov 3, 2016
MEF2C8Nov 3, 2016
MEFV28Nov 3, 2016
MEGF102Nov 3, 2016
MEGF82Nov 3, 2016
MEN117Nov 3, 2016
MERTK11Nov 3, 2016
MESP25Nov 3, 2016
MET30Nov 3, 2016
MFN210Nov 3, 2016
MFRP22Nov 3, 2016
MFSD811Nov 3, 2016
MGAT21Nov 3, 2016
MGMT1Nov 3, 2016
MGP4Nov 3, 2016
MID127Nov 3, 2016
MKKS12Nov 3, 2016
MKS135Nov 3, 2016
MLC12Nov 3, 2016
MLH119Nov 3, 2016
MLYCD6Nov 3, 2016
MMAA4Nov 3, 2016
MMAB10Nov 3, 2016
MMACHC20Nov 3, 2016
MMADHC4Nov 3, 2016
MMP1310Nov 3, 2016
MMP28Nov 3, 2016
MMP211Nov 3, 2016
MMP98Nov 3, 2016
MOGS9Nov 3, 2016
MPDU13Nov 3, 2016
MPDZ1Nov 3, 2016
MPI14Nov 3, 2016
MPV177Nov 3, 2016
MPZ3Nov 3, 2016
MR11Nov 3, 2016
MRE116Nov 3, 2016
MSH216Nov 3, 2016
MSH628Nov 3, 2016
MSRB32Nov 3, 2016
MTHFR20Nov 3, 2016
MTM134Nov 3, 2016
MTMR143Nov 3, 2016
MTMR23Nov 3, 2016
MTR3Nov 3, 2016
MTRR1Nov 3, 2016
MTTP9Nov 3, 2016
MUC5B6Nov 3, 2016
MUS811Nov 3, 2016
MUSK13Nov 3, 2016
MUT32Nov 3, 2016
MUTYH11Nov 3, 2016
MVK8Nov 3, 2016
MYBPC324Nov 3, 2016
MYCN5Nov 3, 2016
MYH1111Nov 3, 2016
MYH1428Nov 3, 2016
MYH223Nov 3, 2016
MYH33Nov 3, 2016
MYH618Nov 3, 2016
MYH740Nov 3, 2016
MYH813Mar 27, 2017
MYH917Nov 3, 2016
MYL22Nov 3, 2016
MYL31Nov 3, 2016
MYLK18Nov 3, 2016
MYLK21Nov 3, 2016
MYO15A51Nov 3, 2016
MYO1A8Nov 3, 2016
MYO1F1Nov 3, 2016
MYO3A14Nov 3, 2016
MYO613Nov 3, 2016
MYO7A73Nov 3, 2016
MYO7B1Nov 3, 2016
MYOC4Nov 3, 2016
MYOT45Nov 3, 2016
MYPN8Nov 3, 2016
NAA105Nov 3, 2016
NAGA3Nov 3, 2016
NAGLU25Nov 3, 2016
NAGS1Nov 3, 2016
NARS21Nov 3, 2016
NBAS4Nov 3, 2016
NBEAL22Nov 3, 2016
NBN16Nov 3, 2016
NCF25Nov 3, 2016
NCF43Nov 3, 2016
NDE115Nov 3, 2016
NDP10Nov 3, 2016
NDUFA13Nov 3, 2016
NDUFA103Nov 3, 2016
NDUFA131Nov 3, 2016
NDUFAF52Nov 3, 2016
NDUFAF61Nov 3, 2016
NDUFB91Nov 3, 2016
NDUFS13Nov 3, 2016
NDUFS22Nov 3, 2016
NDUFS31Nov 3, 2016
NDUFS41Nov 3, 2016
NDUFS51Nov 3, 2016
NDUFS81Nov 3, 2016
NDUFV21Nov 3, 2016
NEB190Nov 3, 2016
NEBL3Nov 3, 2016
NEFL2Nov 3, 2016
NEIL21Nov 3, 2016
NEK121Nov 3, 2016
NEK85Nov 3, 2016
NEU15Nov 3, 2016
NEXN6Nov 3, 2016
NFIX1Nov 3, 2016
NGF1Nov 3, 2016
NGLY15Nov 3, 2016
NHLRC18Nov 3, 2016
NHS47Nov 3, 2016
NIN2Nov 3, 2016
NIPA13Nov 3, 2016
NIPAL41Nov 3, 2016
NIPBL97Nov 3, 2016
NKX2-55Nov 3, 2016
NKX3-27Nov 3, 2016
NLGN313Nov 3, 2016
NLGN4X31Nov 3, 2016
NLRP31Nov 3, 2016
NLRP78Nov 3, 2016
NME83Nov 3, 2016
NMNAT11Nov 3, 2016
NOBOX1Nov 3, 2016
NOD22Nov 3, 2016
NODAL4Nov 3, 2016
NOTCH132Nov 3, 2016
NOTCH277Nov 3, 2016
NOTCH33Nov 3, 2016
NOTCH41Nov 3, 2016
NPC195Nov 3, 2016
NPC27Nov 3, 2016
NPHP134Nov 3, 2016
NPHP365Nov 3, 2016
NPHP4106Nov 3, 2016
NPHS110Nov 3, 2016
NPHS24Nov 3, 2016
NPR26Nov 3, 2016
NR1H47Nov 3, 2016
NR1I316Nov 3, 2016
NR2E37Nov 3, 2016
NRL2Nov 3, 2016
NRXN169Nov 3, 2016
NSD198Nov 3, 2016
NSDHL7Nov 3, 2016
NSMF1Nov 3, 2016
NTRK16Nov 3, 2016
NTRK22Nov 3, 2016
NUBPL1Nov 3, 2016
NYX3Nov 3, 2016
OAT5Nov 3, 2016
OBSL138Nov 3, 2016
OCA234Nov 3, 2016
OCRL23Nov 3, 2016
OFD115Nov 3, 2016
OPA176Nov 3, 2016
OPA33Nov 3, 2016
OPHN112Nov 3, 2016
OPTN4Nov 3, 2016
OR12D21Nov 3, 2016
ORAI12Nov 3, 2016
ORC41Nov 3, 2016
OSTM16Nov 3, 2016
OTC18Nov 3, 2016
OTOA11Nov 3, 2016
OTOF28Nov 3, 2016
OTOGL3Nov 3, 2016
OTX25Nov 3, 2016
OXCT111Nov 3, 2016
P3H115Nov 3, 2016
PABPN15Nov 3, 2016
PAFAH1B112Nov 3, 2016
PAH97Nov 3, 2016
PAK33Nov 3, 2016
PALB26Nov 3, 2016
PANK213Nov 3, 2016
PAPSS211Nov 3, 2016
PAX22Nov 3, 2016
PAX31Nov 3, 2016
PAX621Nov 3, 2016
PAX82Nov 3, 2016
PCCA21Nov 3, 2016
PCCB26Nov 3, 2016
PCDH1562Nov 3, 2016
PCDH1940Nov 3, 2016
PCNT76Nov 3, 2016
PDE11A1Nov 3, 2016
PDE6A25Nov 3, 2016
PDE6B27Nov 3, 2016
PDE6C12Nov 3, 2016
PDE6G1Nov 3, 2016
PDGFRB4Nov 3, 2016
PDHA19Nov 3, 2016
PDHX8Nov 3, 2016
PDLIM32Nov 3, 2016
PDX14Nov 3, 2016
PDZD717Nov 3, 2016
PEX168Nov 3, 2016
PEX1020Nov 3, 2016
PEX11B1Nov 3, 2016
PEX1213Nov 3, 2016
PEX1310Nov 3, 2016
PEX1419Nov 3, 2016
PEX1612Nov 3, 2016
PEX1910Nov 3, 2016
PEX213Nov 3, 2016
PEX2619Nov 3, 2016
PEX39Nov 3, 2016
PEX522Nov 3, 2016
PEX649Nov 3, 2016
PEX711Nov 3, 2016
PFKM1Nov 3, 2016
PGAM25Nov 3, 2016
PGK13Nov 3, 2016
PGM13Nov 3, 2016
PHEX9Nov 3, 2016
PHF66Nov 3, 2016
PHF83Nov 3, 2016
PHKA23Nov 3, 2016
PHKB7Nov 3, 2016
PHKG21Nov 3, 2016
PHOX2B1Nov 3, 2016
PHYH8Nov 3, 2016
PIGA1Nov 3, 2016
PIGL2Nov 3, 2016
PIGM2Nov 3, 2016
PIGO3Nov 3, 2016
PIGV4Nov 3, 2016
PIK3R11Nov 3, 2016
PIK3R21Nov 3, 2016
PINK16Nov 3, 2016
PITPNM312Nov 3, 2016
PITX15Nov 3, 2016
PITX215Nov 3, 2016
PITX32Nov 3, 2016
PKD213Nov 3, 2016
PKHD1297Nov 3, 2016
PKLR1Nov 3, 2016
PKP11Nov 3, 2016
PKP210Nov 3, 2016
PLCB119Nov 3, 2016
PLCE12Nov 3, 2016
PLEC546Nov 3, 2016
PLEKHG537Nov 3, 2016
PLG2Nov 3, 2016
PLOD15Nov 3, 2016
PLOD27Nov 3, 2016
PLP110Nov 3, 2016
PMM248Nov 3, 2016
PMP223Nov 3, 2016
PMS11Nov 3, 2016
PMS230Nov 3, 2016
PNKD1Nov 3, 2016
PNKP52Nov 3, 2016
PNPLA65Nov 3, 2016
PNPO4Nov 3, 2016
PNPT14Nov 3, 2016
POC1A1Nov 3, 2016
POLG87Nov 3, 2016
POLR1C1Nov 3, 2016
POLR3B1Nov 3, 2016
POMGNT171Nov 3, 2016
POMT1119Nov 3, 2016
POMT299Nov 3, 2016
POP11Nov 3, 2016
POR1Nov 3, 2016
PORCN5Nov 3, 2016
POU1F11Nov 3, 2016
POU3F41Nov 3, 2016
PPT19Nov 3, 2016
PQBP19Nov 3, 2016
PRDM54Nov 3, 2016
PRICKLE127Nov 3, 2016
PRICKLE219Nov 3, 2016
PRKAG27Nov 3, 2016
PRKAR1A1Nov 3, 2016
PRKCG3Nov 3, 2016
PRKCSH10Nov 3, 2016
PRKDC2Nov 3, 2016
PRKN5Nov 3, 2016
PRKRA1Nov 3, 2016
PRMT91Nov 3, 2016
PRODH1Nov 3, 2016
PROK21Nov 3, 2016
PROKR22Nov 3, 2016
PROM125Nov 3, 2016
PROP113Nov 3, 2016
PRPF34Nov 3, 2016
PRPF3111Nov 3, 2016
PRPF66Nov 3, 2016
PRPF812Nov 3, 2016
PRPH213Nov 3, 2016
PRPS14Nov 3, 2016
PRRT219Nov 3, 2016
PRX9Nov 3, 2016
PSAP8Nov 3, 2016
PSEN11Nov 3, 2016
PTCD11Nov 3, 2016
PTCH110Nov 3, 2016
PTCHD112Nov 3, 2016
PTEN62Nov 3, 2016
PTH1R8Nov 3, 2016
PTHLH2Nov 3, 2016
PTPN1142Nov 3, 2016
PTPRQ1Nov 3, 2016
PURA1Nov 3, 2016
PYCR13Nov 3, 2016
PYCR21Nov 3, 2016
PYGL10Nov 3, 2016
PYGM48Nov 3, 2016
QDPR2Nov 3, 2016
RAB281Nov 3, 2016
RAB39B1Nov 3, 2016
RAB3GAP15Nov 3, 2016
RAB3GAP25Nov 3, 2016
RAB7A1Nov 3, 2016
RAD212Nov 3, 2016
RAD501Nov 3, 2016
RAD51C1Nov 3, 2016
RAD51D7Nov 3, 2016
RAF111Nov 3, 2016
RAG12Nov 3, 2016
RAI186Nov 3, 2016
RANGRF2Nov 3, 2016
RAPSN9Nov 3, 2016
RARS23Nov 3, 2016
RASA13Nov 3, 2016
RASGRP25Nov 3, 2016
RAX27Nov 3, 2016
RB142Nov 3, 2016
RBM103Nov 3, 2016
RBM2015Nov 3, 2016
RBM8A6Nov 3, 2016
RBP317Nov 3, 2016
RBP43Nov 3, 2016
RD34Nov 3, 2016
RDH128Nov 3, 2016
RDH131Nov 3, 2016
RDH53Nov 3, 2016
RDX5Nov 3, 2016
RECQL464Nov 3, 2016
REEP11Nov 3, 2016
RELN147Nov 3, 2016
RET40Nov 3, 2016
RETREG13Nov 3, 2016
RFT14Nov 3, 2016
RFX62Nov 3, 2016
RGR9Nov 3, 2016
RGS97Nov 3, 2016
RGS9BP5Nov 3, 2016
RHO5Nov 3, 2016
RIMS110Nov 3, 2016
RIPPLY21Nov 3, 2016
RIT12Nov 3, 2016
RLBP18Nov 3, 2016
RNASEH2B3Nov 3, 2016
RNASEH2C2Nov 3, 2016
RNF1351Nov 3, 2016
RNF1682Nov 3, 2016
ROM113Nov 3, 2016
ROR246Nov 3, 2016
RP127Nov 3, 2016
RP1L12Nov 3, 2016
RP26Nov 3, 2016
RP96Nov 3, 2016
RPE6510Nov 3, 2016
RPGR24Nov 3, 2016
RPGRIP129Nov 3, 2016
RPGRIP1L38Nov 3, 2016
RPL105Nov 3, 2016
RPL51Nov 3, 2016
RPN24Nov 3, 2016
RPS6KA311Nov 3, 2016
RS11Nov 3, 2016
RSPH11Nov 3, 2016
RSPH4A8Nov 3, 2016
RTTN12Nov 3, 2016
RUNX24Nov 3, 2016
RYR1242Nov 3, 2016
RYR284Nov 3, 2016
SACS41Nov 3, 2016
SAG10Nov 3, 2016
SALL128Nov 3, 2016
SALL426Nov 3, 2016
SAMHD11Nov 3, 2016
SAR1B1Nov 3, 2016
SBDS1Nov 3, 2016
SBF24Nov 3, 2016
SCARB28Nov 3, 2016
SCN11A1Nov 3, 2016
SCN1A163Nov 3, 2016
SCN1B13Nov 3, 2016
SCN2A27Nov 3, 2016
SCN3A24Nov 3, 2016
SCN4A29Nov 3, 2016
SCN5A33Nov 3, 2016
SCN8A36Nov 3, 2016
SCN9A57Nov 3, 2016
SCNN1A7Nov 3, 2016
SCNN1B7Nov 3, 2016
SCNN1G4Nov 3, 2016
SCO11Nov 3, 2016
SCO22Nov 3, 2016
SCP23Nov 3, 2016
SDCCAG89Nov 3, 2016
SDHA1Nov 3, 2016
SDHAF12Nov 3, 2016
SDHB8Nov 3, 2016
SDHC2Nov 3, 2016
SDHD1Nov 3, 2016
SEC23B24Nov 3, 2016
SEC637Nov 3, 2016
SELENON44Nov 3, 2016
SEMA3A3Nov 3, 2016
SEMA4A10Nov 3, 2016
SERPINA118Nov 3, 2016
SERPINF12Nov 3, 2016
SERPINH112Nov 3, 2016
SETX19Nov 3, 2016
SFTPB3Nov 3, 2016
SFTPD2Nov 3, 2016
SGCA102Nov 3, 2016
SGCB52Nov 3, 2016
SGCD36Nov 3, 2016
SGCE12Nov 3, 2016
SGCG58Nov 3, 2016
SGSH31Nov 3, 2016
SH3BP21Nov 3, 2016
SH3PXD2B12Nov 3, 2016
SH3TC218Nov 3, 2016
SHANK33Nov 3, 2016
SHH14Nov 3, 2016
SHOC25Nov 3, 2016
SHOX14Nov 3, 2016
SHOX24Nov 3, 2016
SHROOM416Nov 3, 2016
SI1Nov 3, 2016
SIK11Nov 3, 2016
SIL122Nov 3, 2016
SIM12Nov 3, 2016
SIX313Nov 3, 2016
SKI10Nov 3, 2016
SLC12A12Nov 3, 2016
SLC12A66Nov 3, 2016
SLC16A221Nov 3, 2016
SLC17A56Nov 3, 2016
SLC17A84Nov 3, 2016
SLC19A23Nov 3, 2016
SLC19A312Nov 3, 2016
SLC1A32Nov 3, 2016
SLC20A22Nov 3, 2016
SLC22A538Nov 3, 2016
SLC24A111Nov 3, 2016
SLC24A53Nov 3, 2016
SLC25A1311Nov 3, 2016
SLC25A152Nov 3, 2016
SLC25A198Nov 3, 2016
SLC25A202Nov 3, 2016
SLC25A2218Nov 3, 2016
SLC25A381Nov 3, 2016
SLC25A461Nov 3, 2016
SLC26A12Nov 3, 2016
SLC26A219Nov 3, 2016
SLC26A429Nov 3, 2016
SLC26A55Nov 3, 2016
SLC27A531Nov 3, 2016
SLC29A37Nov 3, 2016
SLC2A155Nov 3, 2016
SLC2A105Nov 3, 2016
SLC2A21Nov 3, 2016
SLC30A101Nov 3, 2016
SLC34A328Nov 3, 2016
SLC35A15Nov 3, 2016
SLC35A21Nov 3, 2016
SLC35C15Nov 3, 2016
SLC35D12Nov 3, 2016
SLC37A47Nov 3, 2016
SLC38A82Nov 3, 2016
SLC39A139Nov 3, 2016
SLC3A12Nov 3, 2016
SLC45A211Nov 3, 2016
SLC46A14Nov 3, 2016
SLC52A22Nov 3, 2016
SLC6A191Nov 3, 2016
SLC6A34Nov 3, 2016
SLC6A81Nov 3, 2016
SLC7A92Nov 3, 2016
SLC9A621Nov 3, 2016
SLC9A91Nov 3, 2016
SLCO1B11Nov 3, 2016
SMAD38Nov 3, 2016
SMAD44Nov 3, 2016
SMARCAL127Nov 3, 2016
SMARCB17Nov 3, 2016
SMC1A15Nov 3, 2016
SMC35Nov 3, 2016
SMCHD1127Nov 3, 2016
SMOC16Nov 3, 2016
SMPD187Nov 3, 2016
SMS6Nov 3, 2016
SNRNP20012Nov 3, 2016
SNRPB1Nov 3, 2016
SNTA11Nov 3, 2016
SOD12Nov 3, 2016
SOS125Nov 3, 2016
SOST2Nov 3, 2016
SOX210Nov 3, 2016
SOX316Nov 3, 2016
SOX915Nov 3, 2016
SP78Nov 3, 2016
SPAST4Nov 3, 2016
SPATA710Nov 3, 2016
SPEG9Nov 3, 2016
SPG116Nov 3, 2016
SPG201Nov 3, 2016
SPG78Nov 3, 2016
SPINK54Nov 3, 2016
SPR2Nov 3, 2016
SPRED18Nov 3, 2016
SPRY41Nov 3, 2016
SPTAN137Nov 3, 2016
SPTBN28Nov 3, 2016
SPTLC12Nov 3, 2016
SPTLC21Nov 3, 2016
SRCAP35Nov 3, 2016
SRD5A21Nov 3, 2016
SRD5A35Nov 3, 2016
SRPX211Nov 3, 2016
ST3GAL311Nov 3, 2016
ST3GAL57Nov 3, 2016
STAMBP2Nov 3, 2016
STAT11Nov 3, 2016
STAT5B6Nov 3, 2016
STIL22Nov 3, 2016
STK1113Nov 3, 2016
STK391Nov 3, 2016
STK41Nov 3, 2016
STRA67Nov 3, 2016
STXBP114Nov 3, 2016
STXBP28Nov 3, 2016
STXBP5L1Nov 3, 2016
SUCLA24Nov 3, 2016
SULF17Nov 3, 2016
SUMF15Nov 3, 2016
SUOX2Nov 3, 2016
SURF11Nov 3, 2016
SYN111Nov 3, 2016
SYNE1719Nov 3, 2016
SYNE2217Nov 3, 2016
SYP4Nov 3, 2016
TAF12Nov 3, 2016
TAF62Nov 3, 2016
TAZ1Nov 3, 2016
TBC1D2419Nov 3, 2016
TBCE10Nov 3, 2016
TBL1X1Nov 3, 2016
TBX153Nov 3, 2016
TBX34Nov 3, 2016
TBX57Nov 3, 2016
TBX65Nov 3, 2016
TBXAS110Nov 3, 2016
TCAP26Nov 3, 2016
TCF421Nov 3, 2016
TCIRG117Nov 3, 2016
TCTN110Nov 3, 2016
TCTN210Nov 3, 2016
TCTN33Nov 3, 2016
TDP12Nov 3, 2016
TECPR21Nov 3, 2016
TECTA20Nov 3, 2016
TERT4Nov 3, 2016
TFR22Nov 3, 2016
TG2Nov 3, 2016
TGFB12Nov 3, 2016
TGFB24Nov 3, 2016
TGFBR16Nov 3, 2016
TGM11Nov 3, 2016
TH5Nov 3, 2016
THAP11Nov 3, 2016
THPO5Nov 3, 2016
THRB5Nov 3, 2016
TIMM8A1Nov 3, 2016
TIMP32Nov 3, 2016
TINF21Nov 3, 2016
TJP248Nov 3, 2016
TMC19Nov 3, 2016
TMEM126A6Nov 3, 2016
TMEM1381Nov 3, 2016
TMEM1651Nov 3, 2016
TMEM2168Nov 3, 2016
TMEM2316Nov 3, 2016
TMEM2379Nov 3, 2016
TMEM432Nov 3, 2016
TMEM53Nov 3, 2016
TMEM6719Nov 3, 2016
TMEM702Nov 3, 2016
TMIE3Nov 3, 2016
TMPRSS37Nov 3, 2016
TNFRSF11A17Nov 3, 2016
TNFRSF11B7Nov 3, 2016
TNFRSF13B1Nov 3, 2016
TNFSF118Nov 3, 2016
TNNC11Nov 3, 2016
TNNI29Nov 3, 2016
TNNI38Nov 3, 2016
TNNT16Nov 3, 2016
TNNT23Nov 3, 2016
TNPO348Nov 3, 2016
TNXB2Nov 3, 2016
TOPORS25Nov 3, 2016
TOR1A2Nov 3, 2016
TP5313Nov 3, 2016
TP639Nov 3, 2016
TPK11Nov 3, 2016
TPM11Nov 3, 2016
TPM213Nov 3, 2016
TPM32Nov 3, 2016
TPMT2Nov 3, 2016
TPP123Nov 3, 2016
TPRN12Nov 3, 2016
TRAPPC91Nov 3, 2016
TRDN2Nov 3, 2016
TREM26Nov 3, 2016
TREX15Nov 3, 2016
TRIM3263Nov 3, 2016
TRIM379Nov 3, 2016
TRIOBP38Nov 3, 2016
TRIP1119Nov 3, 2016
TRMU14Nov 3, 2016
TRPM126Nov 3, 2016
TRPS17Nov 3, 2016
TRPV413Nov 3, 2016
TSC144Nov 3, 2016
TSC276Nov 3, 2016
TSEN26Nov 3, 2016
TSEN344Nov 3, 2016
TSEN5430Nov 3, 2016
TSPAN122Nov 3, 2016
TSPAN71Nov 3, 2016
TSPEAR1Nov 3, 2016
TTBK23Nov 3, 2016
TTC195Nov 3, 2016
TTC21B18Nov 3, 2016
TTC3719Nov 3, 2016
TTC7A3Nov 3, 2016
TTC83Nov 3, 2016
TTLL52Nov 3, 2016
TTN1765Nov 3, 2016
TTPA5Nov 3, 2016
TTR8Nov 3, 2016
TUBA1A4Nov 3, 2016
TUBA82Nov 3, 2016
TUBB2B2Nov 3, 2016
TUBB35Nov 3, 2016
TUBGCP41Nov 3, 2016
TULP117Nov 3, 2016
TUSC38Nov 3, 2016
TWNK5Nov 3, 2016
TYK21Nov 3, 2016
TYMP1Nov 3, 2016
TYR23Nov 3, 2016
TYROBP1Nov 3, 2016
TYRP16Nov 3, 2016
UACA1Nov 3, 2016
UBE2A1Nov 3, 2016
UBE3A28Nov 3, 2016
UBR11Nov 3, 2016
UGT1A117Nov 3, 2016
UMOD12Nov 3, 2016
UNC1193Nov 3, 2016
UNC13D1Nov 3, 2016
UNC801Nov 3, 2016
UPB11Nov 3, 2016
UPF3B3Nov 3, 2016
UQCRB2Nov 3, 2016
UROS1Nov 3, 2016
USH1C28Nov 3, 2016
USH1G9Nov 3, 2016
USH2A191Nov 3, 2016
VAMP11Nov 3, 2016
VANGL13Nov 3, 2016
VAX14Nov 3, 2016
VCAN29Nov 3, 2016
VCL5Nov 3, 2016
VCP8Nov 3, 2016
VEGFA1Nov 3, 2016
VHL15Nov 3, 2016
VIPAS3911Nov 3, 2016
VKORC12Nov 3, 2016
VLDLR7Nov 3, 2016
VPS13B143Nov 3, 2016
VPS33B16Nov 3, 2016
VPS37A3Nov 3, 2016
VRK15Nov 3, 2016
VSX211Nov 3, 2016
VWF17Nov 3, 2016
WAS4Nov 3, 2016
WASHC57Nov 3, 2016
WDPCP6Nov 3, 2016
WDR1912Nov 3, 2016
WDR3525Nov 3, 2016
WDR453Nov 3, 2016
WDR6251Nov 3, 2016
WDR732Nov 3, 2016
WFS159Nov 3, 2016
WHRN29Nov 3, 2016
WIPF11Nov 3, 2016
WNK114Nov 3, 2016
WNT10A1Nov 3, 2016
WNT32Nov 3, 2016
WNT5A5Nov 3, 2016
WNT7A6Nov 3, 2016
WRN26Nov 3, 2016
WT18Nov 3, 2016
WWOX1Nov 3, 2016
XIAP1Nov 3, 2016
XPNPEP32Nov 3, 2016
XRCC21Nov 3, 2016
YARS3Nov 3, 2016
ZAP702Nov 3, 2016
ZCCHC121Nov 3, 2016
ZDHHC153Nov 3, 2016
ZDHHC92Nov 3, 2016
ZEB11Nov 3, 2016
ZEB261Nov 3, 2016
ZFYVE2617Nov 3, 2016
ZFYVE275Nov 3, 2016
ZIC27Nov 3, 2016
ZIC35Nov 3, 2016
ZMPSTE245Nov 3, 2016
ZMYM34Nov 3, 2016
ZNF3354Nov 3, 2016
ZNF413Nov 3, 2016
ZNF42318Nov 3, 2016
ZNF46952Nov 3, 2016
ZNF5135Nov 3, 2016
ZNF6742Nov 3, 2016
ZNF7111Jun 9, 2015
ZNF811Nov 3, 2016

Condition

NameSubmissionsLast Updated
21-hydroxylase deficiency3Nov 3, 2016
3 Methylcrotonyl-CoA carboxylase 1 deficiency12Nov 3, 2016
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency1Nov 3, 2016
3-methylcrotonyl CoA carboxylase 2 deficiency9Nov 3, 2016
ATR-X syndrome3Nov 3, 2016
Aarskog syndrome7Nov 3, 2016
Absent corpus callosum cataract immunodeficiency1Nov 3, 2016
Achondrogenesis, type IB2Nov 3, 2016
Achondrogenesis, type II2Nov 3, 2016
Achondroplasia3Nov 3, 2016
Achromatopsia 33Nov 3, 2016
Acrocallosal syndrome, Schinzel type1Nov 3, 2016
Acute myeloid leukemia1Nov 3, 2016
Acute neuronopathic Gaucher's disease1Nov 3, 2016
Adams-Oliver syndrome 21Nov 3, 2016
Adenylosuccinate lyase deficiency2Nov 3, 2016
Adolescent nephronophthisis6Nov 3, 2016
Adrenoleukodystrophy31Nov 3, 2016
Adult hypophosphatasia5Nov 3, 2016
Afibrinogenemia1Nov 3, 2016
Age-related macular degeneration 21Nov 3, 2016
Age-related macular degeneration 61Nov 3, 2016
Aicardi Goutieres syndrome 13Nov 3, 2016
Aicardi Goutieres syndrome 21Nov 3, 2016
Aicardi Goutieres syndrome 31Nov 3, 2016
Aicardi-goutieres syndrome 62Nov 3, 2016
Alagille syndrome 118Nov 3, 2016
Alagille syndrome 21Nov 3, 2016
Albinism, oculocutaneous, type VII1Nov 3, 2016
Allan-Herndon-Dudley syndrome5Nov 3, 2016
Alpha-1-antitrypsin deficiency2Nov 3, 2016
Alport syndrome, X-linked recessive1Nov 3, 2016
Alport syndrome, autosomal recessive1Nov 3, 2016
Alternating hemiplegia of childhood 21Nov 3, 2016
Amelogenesis imperfecta, hypomaturation type, IIA11Nov 3, 2016
Amyloidogenic transthyretin amyloidosis1Nov 3, 2016
Amyotrophic lateral sclerosis type 12Nov 3, 2016
Amyotrophic lateral sclerosis type 42Nov 3, 2016
Androgen resistance syndrome1Nov 3, 2016
Anemia, nonspherocytic hemolytic, due to G6PD deficiency20Nov 3, 2016
Angelman syndrome6Nov 3, 2016
Aniridia 19Nov 3, 2016
Aortic aneurysm, ascending, and dissection1Nov 3, 2016
Argininosuccinate lyase deficiency3Nov 3, 2016
Arrhythmogenic right ventricular cardiomyopathy, type 92Nov 3, 2016
Arthrogryposis renal dysfunction cholestasis syndrome1Nov 3, 2016
Aspartylglycosaminuria2Nov 3, 2016
Ataxia-telangiectasia syndrome2Nov 3, 2016
Atrophia bulborum hereditaria3Nov 3, 2016
Autism, susceptibility to, 182Nov 3, 2016
Autosomal dominant hypohidrotic ectodermal dysplasia1Nov 3, 2016
Autosomal dominant optic atrophy plus syndrome1Nov 3, 2016
Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 11Nov 3, 2016
Autosomal recessive centronuclear myopathy1Nov 3, 2016
Autosomal recessive congenital ichthyosis 11Nov 3, 2016
Autosomal recessive congenital ichthyosis 61Nov 3, 2016
Autosomal recessive cutis laxa type 1B1Nov 3, 2016
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome1Nov 3, 2016
Autosomal recessive polycystic kidney disease50Nov 3, 2016
Axenfeld-Rieger syndrome type 31Nov 3, 2016
Bainbridge-Ropers syndrome2Nov 3, 2016
Bannayan-Riley-Ruvalcaba syndrome1Nov 3, 2016
Bardet-Biedl syndrome3Nov 3, 2016
Bardet-Biedl syndrome 104Nov 3, 2016
Bardet-Biedl syndrome 121Nov 3, 2016
Bardet-Biedl syndrome 171Nov 3, 2016
Bardet-Biedl syndrome 24Nov 3, 2016
Bardet-Biedl syndrome 73Nov 3, 2016
Bardet-Biedl syndrome 92Nov 3, 2016
Basal ganglia disease, biotin-responsive1Nov 3, 2016
Becker muscular dystrophy172Nov 3, 2016
Benign familial neonatal seizures 14Nov 3, 2016
Benign familial neonatal-infantile seizures2Nov 3, 2016
Benign recurrent intrahepatic cholestasis 211Nov 3, 2016
Benign scapuloperoneal muscular dystrophy with cardiomyopathy7Nov 3, 2016
Bent bone dysplasia syndrome1Nov 3, 2016
Bernard Soulier syndrome1Nov 3, 2016
Bestrophinopathy, autosomal recessive1Nov 3, 2016
Bethlem myopathy 169Nov 3, 2016
Bietti crystalline corneoretinal dystrophy1Nov 3, 2016
Bifunctional peroxisomal enzyme deficiency2Nov 3, 2016
Bile acid synthesis defect, congenital, 12Nov 3, 2016
Bile acid synthesis defect, congenital, 21Nov 3, 2016
Biotinidase deficiency14Nov 3, 2016
Bloom syndrome4Nov 3, 2016
Brachydactyly type B11Nov 3, 2016
Brachydactyly type C1Nov 3, 2016
Breast-ovarian cancer, familial 112Nov 3, 2016
Breast-ovarian cancer, familial 214Nov 3, 2016
Breast-ovarian cancer, familial 42Nov 3, 2016
Bronchiectasis with or without elevated sweat chloride 11Nov 3, 2016
Brown-Vialetto-Van Laere syndrome 22Nov 3, 2016
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, MYOPATHIC, STRESS-INDUCED3Nov 3, 2016
CHARGE association20Nov 3, 2016
Camptomelic dysplasia1Nov 3, 2016
Carbohydrate-deficient glycoprotein syndrome type I16Nov 3, 2016
Cardiofaciocutaneous syndrome 12Nov 3, 2016
Cardiofaciocutaneous syndrome 31Nov 3, 2016
Cardiomyopathy dilated with woolly hair and keratoderma1Nov 3, 2016
Carnitine palmitoyltransferase I deficiency6Nov 3, 2016
Central core disease15Nov 3, 2016
Cerebellar ataxia infantile with progressive external ophthalmoplegia4Nov 3, 2016
Cerebellar ataxia, nonprogressive, with mental retardation1Nov 3, 2016
Cerebral cavernous malformation2Nov 3, 2016
Cerebral cavernous malformations 21Nov 3, 2016
Cerebral folate deficiency2Nov 3, 2016
Ceroid lipofuscinosis neuronal 12Nov 3, 2016
Ceroid lipofuscinosis neuronal 21Nov 3, 2016
Ceroid lipofuscinosis neuronal 52Nov 3, 2016
Charcot-Marie-Tooth disease, axonal, type 2S1Nov 3, 2016
Charcot-Marie-Tooth disease, demyelinating, type 1b2Nov 3, 2016
Charcot-Marie-Tooth disease, demyelinating, type 4f1Nov 3, 2016
Charcot-Marie-Tooth disease, type 2A21Nov 3, 2016
Charcot-Marie-Tooth disease, type 4B21Nov 3, 2016
Charcot-Marie-Tooth disease, type 4C1Nov 3, 2016
Childhood hypophosphatasia1Nov 3, 2016
Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia1Nov 3, 2016
Cholecystitis1Nov 3, 2016
Cholestanol storage disease1Nov 3, 2016
Cholestasis of pregnancy1Nov 3, 2016
Cholestasis, benign recurrent intrahepatic 12Nov 3, 2016
Chondroectodermal dysplasia3Nov 3, 2016
Choroidal dystrophy, central areolar 21Nov 3, 2016
Choroideremia2Nov 3, 2016
Christianson syndrome1Nov 3, 2016
Chromosome 9q deletion syndrome1Nov 3, 2016
Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 21Nov 3, 2016
Chylomicron retention disease1Nov 3, 2016
Ciliary dyskinesia, primary, 111Nov 3, 2016
Ciliary dyskinesia, primary, 154Nov 3, 2016
Ciliary dyskinesia, primary, 171Nov 3, 2016
Ciliary dyskinesia, primary, 211Nov 3, 2016
Ciliary dyskinesia, primary, 74Nov 3, 2016
Ciliary dyskinesia, primary, 91Nov 3, 2016
Citrullinemia type I12Nov 3, 2016
Citrullinemia type II1Nov 3, 2016
Cockayne syndrome B1Nov 3, 2016
Coenzyme Q10 deficiency, primary, 42Nov 3, 2016
Coffin-Lowry syndrome1Nov 3, 2016
Cohen syndrome5Nov 3, 2016
Combined oxidative phosphorylation deficiency 81Nov 3, 2016
Cone-rod dystrophy 111Nov 3, 2016
Cone-rod dystrophy 121Nov 3, 2016
Cone-rod dystrophy 132Nov 3, 2016
Cone-rod dystrophy 152Nov 3, 2016
Cone-rod dystrophy 192Nov 3, 2016
Cone-rod dystrophy 35Nov 3, 2016
Cone-rod dystrophy 61Nov 3, 2016
Cone-rod dystrophy X-linked 31Nov 3, 2016
Congenital bilateral absence of the vas deferens6Nov 3, 2016
Congenital cystic disease of liver3Nov 3, 2016
Congenital disorder of deglycosylation1Nov 3, 2016
Congenital disorder of glycosylation type 1K6Nov 3, 2016
Congenital disorder of glycosylation type 1Q2Nov 3, 2016
Congenital disorder of glycosylation type 2E1Nov 3, 2016
Congenital disorder of glycosylation type 2L3Nov 3, 2016
Congenital dyserythropoietic anemia, type II1Nov 3, 2016
Congenital erythropoietic porphyria1Nov 3, 2016
Congenital generalized lipodystrophy type 11Nov 3, 2016
Congenital hyperammonemia, type I1Nov 3, 2016
Congenital muscular dystrophy, LMNA-related1Nov 3, 2016
Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B56Nov 3, 2016
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A55Nov 3, 2016
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A22Nov 3, 2016
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A73Nov 3, 2016
Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B12Nov 3, 2016
Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B22Nov 3, 2016
Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B31Nov 3, 2016
Congenital myasthenic syndrome 1B, fast-channel1Nov 3, 2016
Congenital myopathy with fiber type disproportion3Nov 3, 2016
Congenital myotonia, autosomal recessive form2Nov 3, 2016
Congenital order of glycosylation type 1r2Nov 3, 2016
Congenital stationary night blindness, type 1A1Nov 3, 2016
Congenital stationary night blindness, type 1B2Nov 3, 2016
Congenital stationary night blindness, type 1C2Nov 3, 2016
Congenital stationary night blindness, type 1E3Nov 3, 2016
Congenital stationary night blindness, type 2A3Nov 3, 2016
Corneal fragility keratoglobus, blue sclerae AND joint hypermobility2Nov 3, 2016
Cornelia de Lange syndrome 118Nov 3, 2016
Costello syndrome1Nov 3, 2016
Cranioectodermal dysplasia 23Nov 3, 2016
Crigler-Najjar syndrome1Nov 3, 2016
Cryptophthalmos syndrome6Nov 3, 2016
Cutaneous malignant melanoma 11Nov 3, 2016
Cutis laxa with osteodystrophy5Nov 3, 2016
Cutis laxa, autosomal dominant1Nov 3, 2016
Cystic fibrosis53Nov 3, 2016
Cystinuria2Nov 3, 2016
Deafness, autosomal dominant 121Nov 3, 2016
Deafness, autosomal dominant 251Nov 3, 2016
Deafness, autosomal dominant 281Nov 3, 2016
Deafness, autosomal dominant 401Nov 3, 2016
Deafness, autosomal recessive 181Nov 3, 2016
Deafness, autosomal recessive 1A26Nov 3, 2016
Deafness, autosomal recessive 221Nov 3, 2016
Deafness, autosomal recessive 281Nov 3, 2016
Deafness, autosomal recessive 33Nov 3, 2016
Deafness, autosomal recessive 302Nov 3, 2016
Deafness, autosomal recessive 311Nov 3, 2016
Deafness, autosomal recessive 71Nov 3, 2016
Deafness, autosomal recessive 775Nov 3, 2016
Deafness, autosomal recessive 82Nov 3, 2016
Deafness, autosomal recessive 841Nov 3, 2016
Deafness, autosomal recessive 84b2Nov 3, 2016
Deficiency of 2-methylbutyryl-CoA dehydrogenase1Nov 3, 2016
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase57Nov 3, 2016
Deficiency of acetyl-CoA acetyltransferase13Nov 3, 2016
Deficiency of alpha-mannosidase2Nov 3, 2016
Deficiency of butyryl-CoA dehydrogenase1Nov 3, 2016
Deficiency of hydroxymethylglutaryl-CoA lyase2Nov 3, 2016
Deficiency of isobutyryl-CoA dehydrogenase3Nov 3, 2016
Dejerine-Sottas disease2Nov 3, 2016
Dent disease 24Nov 3, 2016
Desbuquois dysplasia 13Nov 3, 2016
Diabetes mellitus AND insipidus with optic atrophy AND deafness2Nov 3, 2016
Diabetes mellitus type 21Nov 3, 2016
Diastrophic dysplasia1Nov 3, 2016
Digitorenocerebral syndrome1Nov 3, 2016
Dihydropyrimidinase deficiency1Nov 3, 2016
Dihydropyrimidine dehydrogenase deficiency1Nov 3, 2016
Dilated cardiomyopathy1Nov 3, 2016
Dilated cardiomyopathy 1A4Nov 3, 2016
Dilated cardiomyopathy 1F1Nov 3, 2016
Dilated cardiomyopathy 1G24Nov 3, 2016
Dilated cardiomyopathy 1I2Nov 3, 2016
Dilated cardiomyopathy 1Y1Nov 3, 2016
Dilated cardiomyopathy 3B219Nov 3, 2016
Distal arthrogryposis type 2B1Nov 3, 2016
Distal arthrogryposis type 81Nov 3, 2016
Distal myopathy Markesbery-Griggs type39Nov 3, 2016
Distal myopathy, Tateyama type1Nov 3, 2016
Dominant hereditary optic atrophy25Nov 3, 2016
Dopamine beta hydroxylase deficiency1Nov 3, 2016
Dubin-Johnson syndrome6Nov 3, 2016
Duchenne muscular dystrophy207Nov 3, 2016
Dyggve-Melchior-Clausen syndrome2Nov 3, 2016
Dystonia 101Jun 9, 2015
Early infantile epileptic encephalopathy 102Nov 3, 2016
Early infantile epileptic encephalopathy 112Nov 3, 2016
Early infantile epileptic encephalopathy 131Nov 3, 2016
Early infantile epileptic encephalopathy 28Nov 3, 2016
Early infantile epileptic encephalopathy 42Nov 3, 2016
Early infantile epileptic encephalopathy 73Nov 3, 2016
Early infantile epileptic encephalopathy 93Nov 3, 2016
Ectopia lentis et pupillae1Nov 3, 2016
Ectopia lentis, isolated autosomal recessive1Nov 3, 2016
Ectopia lentis, isolated, autosomal dominant1Nov 3, 2016
Ehlers-Danlos syndrome progeroid type1Nov 3, 2016
Ehlers-Danlos syndrome, classic type6Nov 3, 2016
Ehlers-Danlos syndrome, hydroxylysine-deficient3Nov 3, 2016
Ehlers-Danlos syndrome, musculocontractural type2Nov 3, 2016
Ehlers-Danlos syndrome, procollagen proteinase deficient1Nov 3, 2016
Ehlers-Danlos syndrome, type 41Nov 3, 2016
Eichsfeld type congenital muscular dystrophy9Nov 3, 2016
Emery-Dreifuss muscular dystrophy 1, X-linked3Nov 3, 2016
Emery-Dreifuss muscular dystrophy 4, autosomal dominant5Nov 3, 2016
Endplate acetylcholinesterase deficiency1Nov 3, 2016
Enlarged vestibular aqueduct syndrome2Nov 3, 2016
Epidermolysa bullosa simplex and limb girdle muscular dystrophy3Nov 3, 2016
Epidermolysis bullosa simplex, autosomal recessive 21Nov 3, 2016
Epilepsy, X-linked, with variable learning disabilities and behavior disorders1Nov 3, 2016
Epilepsy, focal, with speech disorder and with or without mental retardation3Nov 3, 2016
Epilepsy, idiopathic generalized, susceptibility to, 126Nov 3, 2016
Epileptic encephalopathy, early infantile, 11Nov 3, 2016
Epileptic encephalopathy, early infantile, 191Nov 3, 2016
Epileptic encephalopathy, early infantile, 281Nov 3, 2016
Episodic ataxia type 21Nov 3, 2016
FG syndrome 21Nov 3, 2016
FG syndrome 42Nov 3, 2016
Fabry disease91Nov 3, 2016
Facioscapulohumeral muscular dystrophy 28Nov 3, 2016
Familial Mediterranean fever11Nov 3, 2016
Familial X-linked hypophosphatemic vitamin D refractory rickets1Nov 3, 2016
Familial adenomatous polyposis 114Nov 3, 2016
Familial cancer of breast1Nov 3, 2016
Familial dysautonomia1Nov 3, 2016
Familial exudative vitreoretinopathy, X-linked1Nov 3, 2016
Familial hypertrophic cardiomyopathy 15Nov 3, 2016
Familial hypertrophic cardiomyopathy 42Nov 3, 2016
Familial hypertrophic cardiomyopathy 937Nov 3, 2016
Familial infantile myasthenia3Nov 3, 2016
Familial juvenile gout1Nov 3, 2016
Familial mediterranean fever, autosomal dominant1Nov 3, 2016
Familial medullary thyroid carcinoma3Nov 3, 2016
Familial partial lipodystrophy 21Nov 3, 2016
Fanconi anemia, complementation group C1Nov 3, 2016
Fanconi anemia, complementation group L1Nov 3, 2016
Favism, susceptibility to3Nov 3, 2016
Feingold syndrome 11Nov 3, 2016
Fibrous dysplasia of jaw1Nov 3, 2016
Finnish congenital nephrotic syndrome1Nov 3, 2016
Floating-Harbor syndrome2Nov 3, 2016
Freeman-Sheldon syndrome1Nov 3, 2016
Fucosidosis1Nov 3, 2016
Fukuyama congenital muscular dystrophy2Nov 3, 2016
Fumarase deficiency2Nov 3, 2016
GLUT1 deficiency syndrome 18Nov 3, 2016
GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY3Nov 3, 2016
GM1 gangliosidosis type 220Nov 3, 2016
Galactosylceramide beta-galactosidase deficiency14Nov 3, 2016
Ganglioside sialidase deficiency2Nov 3, 2016
Gangliosidosis GM1 type 319Nov 3, 2016
Gaucher's disease, type 129Nov 3, 2016
Geleophysic dysplasia 21Nov 3, 2016
Generalized arterial calcification of infancy 21Nov 3, 2016
Generalized epilepsy with febrile seizures plus, type 12Nov 3, 2016
Generalized epilepsy with febrile seizures plus, type 231Nov 3, 2016
Ghosal syndrome1Nov 3, 2016
Giant axonal neuropathy1Nov 3, 2016
Glaucoma, congenital4Nov 3, 2016
Glucose-6-phosphate transport defect2Nov 3, 2016
Glutaric aciduria, type 112Nov 3, 2016
Glutaric aciduria, type 28Nov 3, 2016
Glycogen storage disease IXb1Nov 3, 2016
Glycogen storage disease type 1A7Nov 3, 2016
Glycogen storage disease type III14Nov 3, 2016
Glycogen storage disease type X1Nov 3, 2016
Glycogen storage disease, type II32Nov 3, 2016
Glycogen storage disease, type IV1Nov 3, 2016
Glycogen storage disease, type V8Nov 3, 2016
Glycogen storage disease, type VI2Nov 3, 2016
Goldberg-Shprintzen megacolon syndrome1Nov 3, 2016
Gorlin syndrome2Nov 3, 2016
Haim-Munk syndrome1Nov 3, 2016
Hajdu-Cheney syndrome1Nov 3, 2016
Hb SS disease2Nov 3, 2016
Hecht syndrome13Mar 27, 2017
Hemophagocytic lymphohistiocytosis, familial, 31Nov 3, 2016
Hereditary factor XI deficiency disease3Nov 3, 2016
Hereditary fructosuria5Nov 3, 2016
Hereditary leiomyomatosis and renal cell cancer6Nov 3, 2016
Hereditary liability to pressure palsies1Nov 3, 2016
Hereditary myopathy with early respiratory failure37Nov 3, 2016
Hereditary nonpolyposis colorectal cancer type 41Nov 3, 2016
Hereditary pancreatitis51Nov 3, 2016
Hereditary sensory and autonomic neuropathy type IIA1Nov 3, 2016
Hermansky-Pudlak syndrome 11Nov 3, 2016
Hermansky-Pudlak syndrome 31Nov 3, 2016
Heterotaxy, visceral, X-linked1Nov 3, 2016
Holocarboxylase synthetase deficiency1Nov 3, 2016
Holoprosencephaly 31Nov 3, 2016
Homocystinuria due to CBS deficiency13Nov 3, 2016
Hurler syndrome20Nov 3, 2016
Hutchinson-Gilford syndrome1Nov 3, 2016
Hydrocephalus, nonsyndromic, autosomal recessive 21Nov 3, 2016
Hyperammonemia, type III1Nov 3, 2016
Hyperimmunoglobulin D with periodic fever2Nov 3, 2016
Hypermanganesemia with dystonia, polycythemia and cirrhosis1Nov 3, 2016
Hyperparathyroidism 11Nov 3, 2016
Hyperparathyroidism 21Nov 3, 2016
Hyperphosphatasia with mental retardation syndrome 21Nov 3, 2016
Hypertrophic cardiomyopathy1Nov 3, 2016
Hypochondroplasia2Nov 3, 2016
Hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities1Nov 3, 2016
Hypohidrotic X-linked ectodermal dysplasia2Nov 3, 2016
Hypokalemic periodic paralysis 11Nov 3, 2016
Hypomyelination and Congenital Cataract1Nov 3, 2016
I cell disease15Nov 3, 2016
Immunodeficiency 301Nov 3, 2016
Inclusion body myopathy 216Nov 3, 2016
Infantile GM1 gangliosidosis23Nov 3, 2016
Infantile convulsions and paroxysmal choreoathetosis, familial1Jun 9, 2015
Infantile cortical hyperostosis1Nov 3, 2016
Infantile hypophosphatasia4Nov 3, 2016
Infantile nephronophthisis2Nov 3, 2016
Infertility associated with multi-tailed spermatozoa and excessive DNA1Nov 3, 2016
Inflammatory bowel disease 28, autosomal recessive1Nov 3, 2016
Insulin-dependent diabetes mellitus secretory diarrhea syndrome1Nov 3, 2016
Insulin-like growth factor 1 resistance to1Nov 3, 2016
Intestinal pseudoobstruction neuronal chronic idiopathic X-linked2Nov 3, 2016
Iodotyrosyl coupling defect2Nov 3, 2016
Irido-corneo-trabecular dysgenesis1Nov 3, 2016
Isovaleryl-CoA dehydrogenase deficiency9Nov 3, 2016
Jankovic Rivera syndrome1Nov 3, 2016
Joubert syndrome 173Nov 3, 2016
Joubert syndrome 211Nov 3, 2016
Joubert syndrome 231Nov 3, 2016
Joubert syndrome 514Nov 3, 2016
Joubert syndrome 62Nov 3, 2016
Joubert syndrome 72Nov 3, 2016
Joubert syndrome 81Nov 3, 2016
Joubert syndrome 92Nov 3, 2016
Juvenile macular degeneration and hypotrichosis1Nov 3, 2016
Juvenile neuronal ceroid lipofuscinosis1Nov 3, 2016
Kabuki syndrome 164Nov 3, 2016
Kabuki syndrome 21Nov 3, 2016
Kallmann syndrome 41Nov 3, 2016
Kartagener syndrome1Nov 3, 2016
Keratitis-ichthyosis-deafness syndrome, autosomal dominant1Nov 3, 2016
Kniest dysplasia2Nov 3, 2016
Knobloch syndrome 11Nov 3, 2016
LEOPARD syndrome 12Nov 3, 2016
LEOPARD syndrome 21Nov 3, 2016
Lafora disease1Nov 3, 2016
Langer mesomelic dysplasia syndrome1Nov 3, 2016
Leber congenital amaurosis 13Nov 3, 2016
Leber congenital amaurosis 107Nov 3, 2016
Leber congenital amaurosis 132Nov 3, 2016
Leber congenital amaurosis 151Nov 3, 2016
Leber congenital amaurosis 22Nov 3, 2016
Leber congenital amaurosis 41Nov 3, 2016
Leber congenital amaurosis 51Nov 3, 2016
Leber congenital amaurosis 71Nov 3, 2016
Leber congenital amaurosis 86Nov 3, 2016
Leigh syndrome1Nov 3, 2016
Leri Weill dyschondrosteosis2Nov 3, 2016
Lesch-Nyhan syndrome4Nov 3, 2016
Lethal Kniest-like syndrome1Nov 3, 2016
Lethal tight skin contracture syndrome2Nov 3, 2016
Leukodystrophy, hypomyelinating, 101Nov 3, 2016
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation1Nov 3, 2016
Leukoencephalopathy with vanishing white matter3Nov 3, 2016
Leukoencephalopathy, progressive, with ovarian failure1Nov 3, 2016
Li-Fraumeni syndrome 21Nov 3, 2016
Lig4 syndrome1Nov 3, 2016
Limb-girdle muscle weakness1Nov 3, 2016
Limb-girdle muscular dystrophy, type 1A2Nov 3, 2016
Limb-girdle muscular dystrophy, type 1B8Nov 3, 2016
Limb-girdle muscular dystrophy, type 1C1Nov 3, 2016
Limb-girdle muscular dystrophy, type 1E3Nov 3, 2016
Limb-girdle muscular dystrophy, type 2A81Nov 3, 2016
Limb-girdle muscular dystrophy, type 2B104Nov 3, 2016
Limb-girdle muscular dystrophy, type 2D17Nov 3, 2016
Limb-girdle muscular dystrophy, type 2E6Nov 3, 2016
Limb-girdle muscular dystrophy, type 2F2Nov 3, 2016
Limb-girdle muscular dystrophy, type 2G2Nov 3, 2016
Limb-girdle muscular dystrophy, type 2J42Nov 3, 2016
Limb-girdle muscular dystrophy, type 2L34Nov 3, 2016
Limb-girdle muscular dystrophy-dystroglycanopathy, type C14Nov 3, 2016
Limb-girdle muscular dystrophy-dystroglycanopathy, type C24Nov 3, 2016
Limb-girdle muscular dystrophy-dystroglycanopathy, type C31Nov 3, 2016
Limb-girdle muscular dystrophy-dystroglycanopathy, type C48Nov 3, 2016
Limb-girdle muscular dystrophy-dystroglycanopathy, type C514Nov 3, 2016
Limb-girdle muscular dystrophy-dystroglycanopathy, type C91Nov 3, 2016
Limb-mammary syndrome1Nov 3, 2016
Lipoyltransferase 1 deficiency1Nov 3, 2016
Lissencephaly 11Nov 3, 2016
Lissencephaly 2, X-linked3Nov 3, 2016
Lissencephaly 31Nov 3, 2016
Lissencephaly, X-linked1Nov 3, 2016
Loeys-Dietz syndrome 41Nov 3, 2016
Long QT syndrome 11Nov 3, 2016
Long QT syndrome 21Nov 3, 2016
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency8Nov 3, 2016
Lowe syndrome7Nov 3, 2016
Lynch syndrome I4Nov 3, 2016
Lysosomal acid lipase deficiency2Nov 3, 2016
METHYLCOBALAMIN DEFICIENCY, cblG TYPE2Nov 3, 2016
Macrocephaly/autism syndrome1Nov 3, 2016
Macular dystrophy, vitelliform, 51Nov 3, 2016
Malignant hyperthermia, susceptibility to, 113Nov 3, 2016
Mandibuloacral dysostosis6Nov 3, 2016
Mandibuloacral dysplasia with type B lipodystrophy1Nov 3, 2016
Maple syrup urine disease72Nov 3, 2016
Marfan syndrome6Nov 3, 2016
Marinesco-Sjögren syndrome2Nov 3, 2016
Marshall syndrome2Nov 3, 2016
Maturity-onset diabetes of the young, type 23Nov 3, 2016
Maturity-onset diabetes of the young, type 81Nov 3, 2016
McKusick Kaufman syndrome1Nov 3, 2016
Meckel syndrome type 11Nov 3, 2016
Meckel syndrome type 31Nov 3, 2016
Meckel syndrome type 43Nov 3, 2016
Meckel syndrome type 52Nov 3, 2016
Meckel syndrome type 63Nov 3, 2016
Meckel syndrome type 81Nov 3, 2016
Medium-chain acyl-coenzyme A dehydrogenase deficiency21Nov 3, 2016
Medullary cystic kidney disease 21Nov 3, 2016
Menkes kinky-hair syndrome3Nov 3, 2016
Mental retardation 63, X-linked1Nov 3, 2016
Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance1Nov 3, 2016
Mental retardation and microcephaly with pontine and cerebellar hypoplasia2Nov 3, 2016
Mental retardation with language impairment and with or without autistic features4Nov 3, 2016
Mental retardation, X-linked 191Nov 3, 2016
Mental retardation, X-linked 982Nov 3, 2016
Mental retardation, X-linked, syndromic 1314Nov 3, 2016
Mental retardation, X-linked, syndromic, wu type1Nov 3, 2016
Mental retardation, autosomal dominant 11Nov 3, 2016
Mental retardation, autosomal dominant 122Nov 3, 2016
Mental retardation, autosomal dominant 311Nov 3, 2016
Mental retardation, autosomal dominant 61Nov 3, 2016
Mental retardation, syndromic 14, X-linked1Nov 3, 2016
Mental retardation, syndromic, Claes-Jensen type, X-linked4Nov 3, 2016
Mental retardation, with or without seizures, ARX-related, X-linked1Nov 3, 2016
Merosin deficient congenital muscular dystrophy41Nov 3, 2016
Metachromatic leukodystrophy25Nov 3, 2016
Methylmalonic acidemia with homocystinuria8Nov 3, 2016
Methylmalonic aciduria cblB type1Nov 3, 2016
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency12Nov 3, 2016
Michels syndrome1Nov 3, 2016
Microcephalic osteodysplastic primordial dwarfism type 22Nov 3, 2016
Microcephaly, short stature, and polymicrogyria with or without seizures1Nov 3, 2016
Microcephaly-capillary malformation syndrome2Nov 3, 2016
Microphthalmia syndromic 33Nov 3, 2016
Microphthalmia syndromic 92Nov 3, 2016
Microphthalmia, isolated 51Nov 3, 2016
Minicore myopathy with external ophthalmoplegia1Nov 3, 2016
Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)1Nov 3, 2016
Mitochondrial DNA depletion syndrome 4B, MNGIE type4Nov 3, 2016
Mitochondrial DNA-depletion syndrome 3, hepatocerebral1Nov 3, 2016
Mitochondrial complex I deficiency1Nov 3, 2016
Mitochondrial complex III deficiency, nuclear type 31Nov 3, 2016
Mitochondrial trifunctional protein deficiency6Nov 3, 2016
Miyoshi muscular dystrophy 188Nov 3, 2016
Miyoshi muscular dystrophy 314Nov 3, 2016
Mowat-Wilson syndrome23Nov 3, 2016
Mucopolysaccharidosis type VI1Nov 3, 2016
Mucopolysaccharidosis type VII5Nov 3, 2016
Mucopolysaccharidosis, MPS-II18Nov 3, 2016
Mucopolysaccharidosis, MPS-III-A9Nov 3, 2016
Mucopolysaccharidosis, MPS-III-B5Nov 3, 2016
Mucopolysaccharidosis, MPS-IV-A14Nov 3, 2016
Mucopolysaccharidosis, MPS-IV-B19Nov 3, 2016
Multicentric osteolysis nephropathy1Nov 3, 2016
Multicentric osteolysis, nodulosis and arthropathy3Nov 3, 2016
Multiple endocrine neoplasia, type 12Nov 3, 2016
Multiple endocrine neoplasia, type 2a8Nov 3, 2016
Multiple epiphyseal dysplasia 43Nov 3, 2016
Multiple fibrofolliculomas1Nov 3, 2016
Multiple gastrointestinal atresias2Nov 3, 2016
Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects1Nov 3, 2016
Multiple pterygium syndrome Escobar type1Nov 3, 2016
Muscle AMP deaminase deficiency4Nov 3, 2016
Muscle eye brain disease2Nov 3, 2016
Muscular dystrophy, limb-girdle, type 2r1Nov 3, 2016
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 112Nov 3, 2016
Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 73Nov 3, 2016
Myasthenia, limb-girdle, familial2Nov 3, 2016
Myasthenic syndrome, congenital, 4a, slow-channel1Nov 3, 2016
Myasthenic syndrome, congenital, 4b, fast-channel1Nov 3, 2016
Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency5Nov 3, 2016
Myasthenic syndrome, slow-channel congenital1Nov 3, 2016
Mycobacterial and viral infections, susceptibility to, autosomal recessive1Nov 3, 2016
Myoclonic dystonia2Nov 3, 2016
Myofibrillar myopathy 113Nov 3, 2016
Myopathy3Nov 3, 2016
Myopathy with postural muscle atrophy, X-linked1Nov 3, 2016
Myopathy, centronuclear, 11Nov 3, 2016
Myopathy, distal, with anterior tibial onset6Nov 3, 2016
Myopathy, early-onset, with fatal cardiomyopathy37Nov 3, 2016
Myotilinopathy2Nov 3, 2016
Nanophthalmos 21Nov 3, 2016
Navajo neurohepatopathy2Nov 3, 2016
Nemaline myopathy 28Nov 3, 2016
Neonatal intrahepatic cholestasis caused by citrin deficiency1Nov 3, 2016
Nephrogenic diabetes insipidus, X-linked1Nov 3, 2016
Nephronophthisis 13Nov 3, 2016
Nephropathic cystinosis2Nov 3, 2016
Nephrotic syndrome, idiopathic, steroid-resistant1Nov 3, 2016
Neurodegeneration with brain iron accumulation 41Nov 3, 2016
Neutral 1 amino acid transport defect1Nov 3, 2016
Niemann-Pick disease type C120Nov 3, 2016
Niemann-Pick disease, type A5Nov 3, 2016
Niemann-Pick disease, type B17Nov 3, 2016
Nijmegen breakage syndrome-like disorder1Nov 3, 2016
Non-ketotic hyperglycinemia1Nov 3, 2016
Nonaka myopathy2Nov 3, 2016
Noonan syndrome 15Nov 3, 2016
Noonan syndrome 41Nov 3, 2016
Noonan syndrome 53Nov 3, 2016
Noonan syndrome 71Nov 3, 2016
Noonan-like syndrome with loose anagen hair1Nov 3, 2016
Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 21Nov 3, 2016
Oculocutaneous albinism type 1B5Nov 3, 2016
Oculocutaneous albinism type 31Nov 3, 2016
Oculocutaneous albinism type 44Nov 3, 2016
Oculofaciocardiodental syndrome2Nov 3, 2016
Opitz-Frias syndrome4Nov 3, 2016
Ornithine carbamoyltransferase deficiency4Nov 3, 2016
Orofaciodigital syndrome 61Nov 3, 2016
Osler hemorrhagic telangiectasia syndrome2Nov 3, 2016
Osteogenesis imperfecta type 51Nov 3, 2016
Osteogenesis imperfecta type 83Nov 3, 2016
Osteogenesis imperfecta type I18Nov 3, 2016
Osteogenesis imperfecta type III5Nov 3, 2016
Osteogenesis imperfecta with normal sclerae, dominant form6Nov 3, 2016
Osteogenesis imperfecta, recessive perinatal lethal13Nov 3, 2016
Osteogenesis imperfecta, type XI1Nov 3, 2016
Osteopetrosis with renal tubular acidosis1Nov 3, 2016
Osteopetrosis, autosomal recessive 51Nov 3, 2016
Osteoporosis with pseudoglioma1Nov 3, 2016
Oto-palato-digital syndrome, type I11Nov 3, 2016
Otospondylomegaepiphyseal dysplasia1Nov 3, 2016
PTEN hamartoma tumor syndrome1Nov 3, 2016
Papillon-Lefèvre syndrome1Nov 3, 2016
Paragangliomas 42Nov 3, 2016
Paramyotonia congenita of von Eulenburg2Nov 3, 2016
Pelizaeus-Merzbacher disease1Nov 3, 2016
Pendred's syndrome6Nov 3, 2016
Periventricular nodular heterotopia 116Nov 3, 2016
Permanent neonatal diabetes mellitus1Nov 3, 2016
Peroxisome biogenesis disorder 11A1Nov 3, 2016
Peroxisome biogenesis disorder 11B1Nov 3, 2016
Peroxisome biogenesis disorder 1B2Nov 3, 2016
Peroxisome biogenesis disorder 4a (zellweger)5Nov 3, 2016
Peroxisome biogenesis disorder 5a (zellweger)1Nov 3, 2016
Peroxisome biogenesis disorder 6A2Nov 3, 2016
Peroxisome biogenesis disorder 7A1Nov 3, 2016
Peroxisome biogenesis disorder 9B2Nov 3, 2016
Persistent hyperinsulinemic hypoglycemia of infancy3Nov 3, 2016
Peters plus syndrome3Nov 3, 2016
Peutz-Jeghers syndrome7Nov 3, 2016
Phenylketonuria67Nov 3, 2016
Pheochromocytoma2Nov 3, 2016
Pigmentary pallidal degeneration1Nov 3, 2016
Pigmentary retinal dystrophy1Nov 3, 2016
Pilomatrixoma1Nov 3, 2016
Pitt-Hopkins syndrome8Nov 3, 2016
Pitt-Hopkins-like syndrome 21Nov 3, 2016
Plasminogen deficiency, type I2Nov 3, 2016
Platelet glycoprotein IV deficiency1Nov 3, 2016
Platelet-type bleeding disorder 111Nov 3, 2016
Platyspondylic lethal skeletal dysplasia Torrance type3Nov 3, 2016
Polyglandular autoimmune syndrome, type 14Nov 3, 2016
Polyglucosan body disease, adult1Nov 3, 2016
Pontocerebellar hypoplasia type 2A1Nov 3, 2016
Pontocerebellar hypoplasia type 41Nov 3, 2016
Primary autosomal recessive microcephaly 11Nov 3, 2016
Primary autosomal recessive microcephaly 52Nov 3, 2016
Primary autosomal recessive microcephaly 61Nov 3, 2016
Primary ciliary dyskinesia 231Nov 3, 2016
Primary ciliary dyskinesia 241Nov 3, 2016
Primary hyperoxaluria, type I1Nov 3, 2016
Primary hyperoxaluria, type II1Nov 3, 2016
Primary pulmonary hypertension1Nov 3, 2016
Progressive familial intrahepatic cholestasis 212Nov 3, 2016
Progressive familial intrahepatic cholestasis 34Nov 3, 2016
Progressive familial intrahepatic cholestasis 44Nov 3, 2016
Progressive intrahepatic cholestasis2Nov 3, 2016
Progressive sclerosing poliodystrophy7Nov 3, 2016
Propionic acidemia21Nov 3, 2016
Pseudohypoparathyroidism type 1A1Nov 3, 2016
Pseudohypoparathyroidism type 1C1Nov 3, 2016
Pseudopseudohypoparathyroidism1Nov 3, 2016
Pseudoxanthoma elasticum2Nov 3, 2016
Pseudoxanthoma elasticum, forme fruste1Nov 3, 2016
Pyridoxine-dependent epilepsy2Nov 3, 2016
Pyruvate dehydrogenase E1-alpha deficiency1Nov 3, 2016
Pyruvate kinase deficiency of red cells1Nov 3, 2016
Radial aplasia-thrombocytopenia syndrome2Nov 3, 2016
Recessive dystrophic epidermolysis bullosa2Nov 3, 2016
Renal carnitine transport defect17Nov 3, 2016
Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia1Nov 3, 2016
Renal-hepatic-pancreatic dysplasia5Nov 3, 2016
Renpenning syndrome 11Nov 3, 2016
Retinitis pigmentosa 14Nov 3, 2016
Retinitis pigmentosa 112Nov 3, 2016
Retinitis pigmentosa 124Nov 3, 2016
Retinitis pigmentosa 141Nov 3, 2016
Retinitis pigmentosa 155Nov 3, 2016
Retinitis pigmentosa 194Nov 3, 2016
Retinitis pigmentosa 22Nov 3, 2016
Retinitis pigmentosa 2514Nov 3, 2016
Retinitis pigmentosa 261Nov 3, 2016
Retinitis pigmentosa 271Nov 3, 2016
Retinitis pigmentosa 282Nov 3, 2016
Retinitis pigmentosa 371Nov 3, 2016
Retinitis pigmentosa 3911Nov 3, 2016
Retinitis pigmentosa 41Nov 3, 2016
Retinitis pigmentosa 403Nov 3, 2016
Retinitis pigmentosa 411Nov 3, 2016
Retinitis pigmentosa 432Nov 3, 2016
Retinitis pigmentosa 453Nov 3, 2016
Retinitis pigmentosa 543Nov 3, 2016
Retinitis pigmentosa 562Nov 3, 2016
Retinitis pigmentosa 621Nov 3, 2016
Retinitis pigmentosa 71Nov 3, 2016
Retinoblastoma18Nov 3, 2016
Rett syndrome17Nov 3, 2016
Rett syndrome, congenital variant2Nov 3, 2016
Rhizomelic chondrodysplasia punctata type 11Nov 3, 2016
Rippling muscle disease1Nov 3, 2016
Robinow syndrome, autosomal recessive1Nov 3, 2016
Rothmund-Thomson syndrome6Nov 3, 2016
Rubinstein-Taybi syndrome2Nov 3, 2016
Rubinstein-Taybi syndrome 21Nov 3, 2016
Salla disease1Nov 3, 2016
Sandhoff disease12Nov 3, 2016
Sarcotubular myopathy1Nov 3, 2016
Schindler disease, type 11Nov 3, 2016
Schwannomatosis 21Nov 3, 2016
Schwartz Jampel syndrome type 11Nov 3, 2016
Senior-Loken syndrome 56Nov 3, 2016
Senior-Loken syndrome 71Nov 3, 2016
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis2Nov 3, 2016
Septo-optic dysplasia sequence1Nov 3, 2016
Severe X-linked myotubular myopathy14Nov 3, 2016
Severe autosomal recessive muscular dystrophy of childhood - North African type12Nov 3, 2016
Severe combined immunodeficiency due to ADA deficiency1Nov 3, 2016
Severe combined immunodeficiency, atypical1Nov 3, 2016
Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive2Nov 3, 2016
Severe myoclonic epilepsy in infancy31Nov 3, 2016
Short rib polydactyly syndrome 51Nov 3, 2016
Short rib-polydactyly syndrome, Majewski type3Nov 3, 2016
Short stature, idiopathic, X-linked2Nov 3, 2016
Short-rib thoracic dysplasia 3 with or without polydactyly6Nov 3, 2016
Shwachman syndrome1Nov 3, 2016
Sialidosis, type II2Nov 3, 2016
Sialuria5Nov 3, 2016
Sick sinus syndrome 1, autosomal recessive1Nov 3, 2016
Sick sinus syndrome 2, autosomal dominant1Nov 3, 2016
Siderius X-linked mental retardation syndrome2Nov 3, 2016
Simpson-Golabi-Behmel syndrome1Nov 3, 2016
Sitosterolemia2Nov 3, 2016
Sjögren-Larsson syndrome2Nov 3, 2016
Smith-Lemli-Opitz syndrome13Nov 3, 2016
Smith-Magenis syndrome5Nov 3, 2016
Smith-McCort dysplasia 11Nov 3, 2016
Sotos syndrome 110Nov 3, 2016
Spastic ataxia Charlevoix-Saguenay type1Nov 3, 2016
Spastic paraplegia 152Nov 3, 2016
Spastic paraplegia 49, autosomal recessive1Nov 3, 2016
Spastic paraplegia 61Nov 3, 2016
Spastic paraplegia 73Nov 3, 2016
Spinal muscular atrophy, distal, autosomal recessive, 15Nov 3, 2016
Spinocerebellar ataxia, autosomal recessive 810Nov 3, 2016
Spondylocarpotarsal synostosis syndrome1Nov 3, 2016
Spondyloepimetaphyseal dysplasia Strudwick type2Nov 3, 2016
Spondyloepimetaphyseal dysplasia, Missouri type1Nov 3, 2016
Spondyloepimetaphyseal dysplasia, pakistani type3Nov 3, 2016
Spondyloepiphyseal dysplasia congenita7Nov 3, 2016
Spondyloperipheral dysplasia2Nov 3, 2016
Spongy degeneration of central nervous system4Nov 3, 2016
Stargardt disease 133Nov 3, 2016
Stickler syndrome type 133Nov 3, 2016
Stickler syndrome, type 24Nov 3, 2016
Stickler syndrome, type I, nonsyndromic ocular1Nov 3, 2016
Stuve-Wiedemann syndrome1Nov 3, 2016
Subacute neuronopathic Gaucher's disease1Nov 3, 2016
Surfactant metabolism dysfunction, pulmonary, 31Nov 3, 2016
Symmetrical dyschromatosis of extremities1Nov 3, 2016
T-cell immunodeficiency, congenital alopecia and nail dystrophy1Nov 3, 2016
Tatton-Brown-rahman syndrome1Nov 3, 2016
Tay-Sachs disease4Nov 3, 2016
Thanatophoric dysplasia type 11Nov 3, 2016
Three M syndrome 17Nov 3, 2016
Three M syndrome 22Nov 3, 2016
Thyroid dyshormonogenesis 61Nov 3, 2016
Thyroid hormone resistance, generalized, autosomal dominant2Nov 3, 2016
Timothy syndrome1Nov 3, 2016
Tooth agenesis, selective, 41Nov 3, 2016
Townes syndrome1Nov 3, 2016
Transposition of great arteries1Nov 3, 2016
Trichohepatoenteric syndrome 11Nov 3, 2016
Trichorhinophalangeal dysplasia type I1Nov 3, 2016
Trichothiodystrophy 3, photosensitive1Nov 3, 2016
Tuberous sclerosis 13Nov 3, 2016
Tuberous sclerosis 25Nov 3, 2016
Turcot syndrome2Nov 3, 2016
Tyrosinase-negative oculocutaneous albinism9Nov 3, 2016
Tyrosinase-positive oculocutaneous albinism5Nov 3, 2016
Tyrosinemia type I3Nov 3, 2016
UDPglucose-4-epimerase deficiency5Nov 3, 2016
Ullrich congenital muscular dystrophy 168Nov 3, 2016
Ulna and fibula absence of with severe limb deficiency1Nov 3, 2016
Unverricht-Lundborg syndrome1Nov 3, 2016
Usher syndrome, type 13Nov 3, 2016
Usher syndrome, type 1C1Nov 3, 2016
Usher syndrome, type 1D2Nov 3, 2016
Usher syndrome, type 1G1Nov 3, 2016
Usher syndrome, type 2A32Nov 3, 2016
Usher syndrome, type 2C2Nov 3, 2016
Very long chain acyl-CoA dehydrogenase deficiency20Nov 3, 2016
Vitelliform macular dystrophy type 22Nov 3, 2016
Von Hippel-Lindau syndrome12Nov 3, 2016
WFS1-Related Disorders1Nov 3, 2016
Warburg micro syndrome 13Nov 3, 2016
Werner syndrome1Nov 3, 2016
Wilson disease14Nov 3, 2016
Wrinkly skin syndrome1Nov 3, 2016
X-linked hereditary motor and sensory neuropathy2Nov 3, 2016
X-linked hydrocephalus syndrome3Nov 3, 2016
X-linked inheritance2Nov 3, 2016
Xeroderma pigmentosum, group F1Nov 3, 2016
Xeroderma pigmentosum, group G1Nov 3, 2016
Zellweger syndrome7Nov 3, 2016
Zunich neuroectodermal syndrome1Nov 3, 2016
beta Thalassemia4Nov 3, 2016
not provided1282Nov 3, 2016
not specified24070Nov 3, 2016
von Willebrand disease type 21Nov 3, 2016

Testing in GTR

Disease nameNumber of tests
2-methyl-3-hydroxybutyric aciduria1 test
21-hydroxylase deficiency1 test
3 Methylcrotonyl-CoA carboxylase 1 deficiency4 tests
3-Methylglutaconic aciduria2 tests
3-Methylglutaconic aciduria type 24 tests
3-Methylglutaconic aciduria type 36 tests
3-methylcrotonyl CoA carboxylase 2 deficiency4 tests
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome2 tests
46,XY sex reversal, type 21 test
46,XY sex reversal, type 31 test
ADULT syndrome2 tests
ATR-X syndrome6 tests
Aarskog syndrome5 tests
Abetalipoproteinaemia2 tests
Abnormality of mitochondrial metabolism1 test
Acheiropodia2 tests
Achondrogenesis, type IA2 tests
Achondrogenesis, type IB4 tests
Achondrogenesis, type II7 tests
Achondroplasia4 tests
Achromatopsia1 test
Achromatopsia 22 tests
Achromatopsia 34 tests
Achromatopsia 42 tests
Acquired hemoglobin H disease4 tests
Acrocallosal syndrome, Schinzel type7 tests
Acrocapitofemoral dysplasia3 tests
Acrocephalosyndactyly type I3 tests
Acrodysostosis2 tests
Acrodysostosis 1 with or without hormone resistance1 test
Acromesomelic dysplasia Hunter Thompson type3 tests
Acromesomelic dysplasia Maroteaux type2 tests
Acromicric dysplasia6 tests
Acute lymphoid leukemia1 test
Acute myeloid leukemia4 tests
Acute neuronopathic Gaucher's disease2 tests
Acyl-CoA dehydrogenase family, member 9, deficiency of3 tests
Adams-Oliver syndrome 12 tests
Adenylosuccinate lyase deficiency3 tests
Adolescent nephronophthisis8 tests
Adrenocortical carcinoma, hereditary1 test
Adrenoleukodystrophy2 tests
Adult hypophosphatasia3 tests
Adult neuronal ceroid lipofuscinosis6 tests
Adult onset ataxia with oculomotor apraxia1 test
Advanced maternal age gravida5 tests
Age-related macular degeneration 25 tests
Age-related macular degeneration 33 tests
Age-related macular degeneration 62 tests
Aicardi Goutieres syndrome 11 test
Aicardi Goutieres syndrome 21 test
Aicardi Goutieres syndrome 31 test
Aicardi Goutieres syndrome 45 tests
Aicardi Goutieres syndrome 51 test
Aicardi's syndrome1 test
Alagille syndrome 11 test
Alagille syndrome 23 tests
Albinism1 test
Albinism, ocular, with sensorineural deafness2 tests
Albinism, oculocutaneous, type VI1 test
Albinism, oculocutaneous, type VII1 test
Allan-Herndon-Dudley syndrome3 tests
Alpha mannosidosis type 21 test
Alpha-1-antitrypsin deficiency3 tests
Alpha-B crystallinopathy2 tests
Alpha-methylacyl-CoA racemase deficiency1 test
Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity1 test
Alport syndrome, X-linked recessive1 test
Alstrom syndrome3 tests
Alternating hemiplegia of childhood2 tests
Alternating hemiplegia of childhood 11 test
Alternating hemiplegia of childhood 21 test
Alzheimer disease, familial, 3, with spastic paraparesis and apraxia1 test
Ambiguous genitalia2 tests
Amelogenesis imperfecta, type IV2 tests
Aminoglycoside-induced deafness1 test
Amish infantile epilepsy syndrome3 tests
Amish lethal microcephaly2 tests
Amyloidogenic transthyretin amyloidosis3 tests
Amyloidosis hereditary2 tests
Amyotrophic lateral sclerosis1 test
Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia1 test
Andermann syndrome2 tests
Andersen Tawil syndrome4 tests
Angelman syndrome9 tests
Angelman syndrome-like2 tests
Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps2 tests
Aniridia 13 tests
Aniridia, cerebellar ataxia, and mental retardation3 tests
Anophthalmos with limb anomalies2 tests
Anterior segment mesenchymal dysgenesis2 tests
Antley-Bixler syndrome1 test
Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis1 test
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis2 tests
Aortic aneurysm1 test
Aortic aneurysm, familial thoracic 42 tests
Aortic aneurysm, familial thoracic 63 tests
Aortic aneurysm, familial thoracic 71 test
Aortic valve disorder1 test
Aphakia, congenital primary2 tests
Aplastic anemia5 tests
Arginine:glycine amidinotransferase deficiency2 tests
Argininosuccinate lyase deficiency4 tests
Aromatase deficiency1 test
Arrhythmogenic right ventricular cardiomyopathy1 test
Arrhythmogenic right ventricular cardiomyopathy, type 103 tests
Arrhythmogenic right ventricular cardiomyopathy, type 113 tests
Arrhythmogenic right ventricular cardiomyopathy, type 123 tests
Arrhythmogenic right ventricular cardiomyopathy, type 53 tests
Arrhythmogenic right ventricular cardiomyopathy, type 83 tests
Arrhythmogenic right ventricular cardiomyopathy, type 93 tests
Arrhythmogenic right ventricular dysplasia, familial, 28 tests
Arterial calcification of infancy2 tests
Arterial tortuosity syndrome4 tests
Arthrogryposis multiplex congenita distal type 12 tests
Arthrogryposis renal dysfunction cholestasis syndrome1 test
Arthrogryposis, renal dysfunction, and cholestasis 21 test
Arthropathy, erosive1 test
Arts syndrome5 tests
Aspartylglycosaminuria6 tests
Asperger syndrome X-linked 12 tests
Asphyxiating thoracic dystrophy 23 tests
Asphyxiating thoracic dystrophy 43 tests
Asphyxiating thoracic dystrophy 51 test
Asthma, nasal polyps, and aspirin intolerance2 tests
Ataxia with vitamin E deficiency2 tests
Ataxia, spastic, childhood-onset, autosomal recessive, with optic atrophy and mental retardation1 test
Ataxia-telangiectasia syndrome7 tests
Ataxia-telangiectasia-like disorder 12 tests
Ateleiotic dwarfism1 test
Atelosteogenesis type 12 tests
Atelosteogenesis type 23 tests
Atelosteogenesis type 32 tests
Athabaskan brainstem dysgenesis1 test
Atrial fibrillation, familial, 106 tests
Atrial fibrillation, familial, 121 test
Atrial fibrillation, familial, 135 tests
Atrial fibrillation, familial, 35 tests
Atrial fibrillation, familial, 44 tests
Atrial fibrillation, familial, 94 tests
Atrial myxoma, familial3 tests
Atrial septal defect1 test
Atrial septal defect 31 test
Atrial septal defect 53 tests
Atrial septal defect 7 with or without atrioventricular conduction defects5 tests
Atrial septal defect 91 test
Atrioventricular septal defect 21 test
Atrioventricular septal defect 51 test
Atrophia bulborum hereditaria6 tests
Attenuated FAP2 tests
Atypical mycobacteriosis, familial, X-linked 21 test
Autism spectrum disorders7 tests
Autism, susceptibility to, 181 test
Autism, susceptibility to, X-linked 13 tests
Autism, susceptibility to, X-linked 24 tests
Autism, susceptibility to, X-linked 32 tests
Autism, susceptibility to, X-linked 44 tests
Autism, susceptibility to, X-linked 53 tests
Autoimmune lymphoproliferative syndrome, type III1 test
Autosomal dominant hypohidrotic ectodermal dysplasia1 test
Autosomal dominant hypophosphatemic rickets2 tests
Autosomal dominant isolated somatotropin deficiency1 test
Autosomal dominant optic atrophy plus syndrome2 tests
Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 15 tests
Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 31 test
Autosomal hypohidrotic ectodermal dysplasia1 test
Autosomal recessive centronuclear myopathy1 test
Autosomal recessive cutis laxa type 1B2 tests
Autosomal recessive cutis laxa type 2B2 tests
Autosomal recessive cutis laxa type 3B2 tests
Autosomal recessive cutis laxa type IA3 tests
Autosomal recessive hypophosphatemic bone disease2 tests
Autosomal recessive hypophosphatemic vitamin D refractory rickets2 tests
Autosomal recessive polycystic kidney disease4 tests
Avascular necrosis of the head of femur7 tests
Axenfeld-Rieger syndrome type 14 tests
Axenfeld-Rieger syndrome type 33 tests
Azoospermia2 tests
Baller-Gerold syndrome4 tests
Bamforth syndrome2 tests
Bannayan-Riley-Ruvalcaba syndrome7 tests
Baraitser-Winter Syndrome 23 tests
Baraitser-Winter syndrome 12 tests
Bardet-Biedl syndrome18 tests
Bardet-Biedl syndrome 11 test
Bardet-Biedl syndrome 101 test
Bartter syndrome type 41 test
Basal cell carcinoma, multiple4 tests
Basal cell carcinoma, susceptibility to, 71 test
Basal ganglia disease, biotin-responsive3 tests
Becker muscular dystrophy7 tests
Beckwith-Wiedemann syndrome9 tests
Behavior disorder2 tests
Benign familial neonatal seizures 12 tests
Benign familial neonatal seizures 22 tests
Benign familial neonatal-infantile seizures2 tests
Benign recurrent intrahepatic cholestasis 21 test
Benign scapuloperoneal muscular dystrophy with cardiomyopathy9 tests
Bent bone dysplasia syndrome3 tests
Bernard Soulier syndrome1 test
Bestrophinopathy, autosomal recessive4 tests
Beta-D-mannosidosis8 tests
Bethlem myopathy 114 tests
Bietti crystalline corneoretinal dystrophy2 tests
Bifid nose with or without anorectal and renal anomalies2 tests
Bifunctional peroxisomal enzyme deficiency1 test
Bilateral right-sidedness sequence1 test
Bile acid malabsorption, primary1 test
Bile acid synthesis defect, congenital, 11 test
Bile acid synthesis defect, congenital, 21 test
Bile acid synthesis defect, congenital, 31 test
Bilirubin, serum level of, quantitative trait locus 11 test
Biotin-Responsive Multiple Carboxylase Deficiencies1 test
Biotinidase deficiency6 tests
Bloom syndrome6 tests
Bone mineral density quantitative trait locus 15 tests
Boomerang dysplasia2 tests
Borjeson-Forssman-Lehmann syndrome7 tests
Bothnia retinal dystrophy3 tests
Boucher Neuhauser syndrome1 test
Brachydactyly type A13 tests
Brachydactyly type A23 tests
Brachydactyly type B14 tests
Brachydactyly type B22 tests
Brachydactyly type C3 tests
Brachydactyly type D2 tests
Brachydactyly type E12 tests
Brachydactyly type E22 tests
Brachydactyly, type a1, c3 tests
Brachydactyly-Mental Retardation syndrome2 tests
Brachydactyly-syndactyly syndrome2 tests
Brachyrachia (short spine dysplasia)3 tests
Brain small vessel disease with hemorrhage2 tests
Brain tumor-polyposis syndrome 22 tests
Branched-chain keto acid dehydrogenase kinase deficiency3 tests
Branchiootic syndrome1 test
Branchiootic syndrome 31 test
Breast cancer, early-onset1 test
Breast cancer, familial male1 test
Breast cancer, lobular1 test
Breast cancer, susceptibility to1 test
Breast-ovarian cancer, familial 16 tests
Breast-ovarian cancer, familial 26 tests
Breast-ovarian cancer, familial 41 test
Brittle cornea syndrome 21 test
Brody myopathy1 test
Bronchiectasis with or without elevated sweat chloride 14 tests
Bronchiectasis with or without elevated sweat chloride 23 tests
Bronchiectasis with or without elevated sweat chloride 33 tests
Bruck syndrome 22 tests
Brugada syndrome1 test
Brugada syndrome 16 tests
Brugada syndrome 23 tests
Brugada syndrome 37 tests
Brugada syndrome 43 tests
Brugada syndrome 55 tests
Brugada syndrome 63 tests
Brugada syndrome 73 tests
Brugada syndrome 84 tests
Bulimia nervosa 12 tests
Bull's eye macular dystrophy4 tests
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, MYOPATHIC, STRESS-INDUCED1 test
CHARGE association4 tests
COACH syndrome8 tests
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Il3 tests
Camptodactyly, tall stature, and hearing loss syndrome4 tests
Camptomelic dysplasia3 tests
Capillary malformation-arteriovenous malformation2 tests
Carbohydrate-deficient glycoprotein syndrome type I6 tests
Carbohydrate-deficient glycoprotein syndrome type II3 tests
Carcinoid tumor of intestine2 tests
Carcinoma of cervix3 tests
Carcinoma of colon9 tests
Carcinoma of pancreas2 tests
Cardiac arrhythmia2 tests
Cardiac arrhythmia, ankyrin B-related4 tests
Cardiac valvular dysplasia, X-linked8 tests
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency1 test
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 21 test
Cardiofaciocutaneous syndrome 112 tests
Cardiofaciocutaneous syndrome 23 tests
Cardiofaciocutaneous syndrome 33 tests
Cardiofaciocutaneous syndrome 42 tests
Cardiomyopathy2 tests
Cardiomyopathy dilated with woolly hair and keratoderma3 tests
Cardiomyopathy, dilated, 2b1 test
Carney complex, type 13 tests
Carnitine acylcarnitine translocase deficiency4 tests
Carnitine palmitoyltransferase I deficiency5 tests
Carnitine palmitoyltransferase I deficiency , muscle1 test
Carnitine palmitoyltransferase II deficiency3 tests
Carnitine palmitoyltransferase II deficiency, infantile3 tests
Carnitine palmitoyltransferase II deficiency, lethal neonatal2 tests
Carotid intimal medial thickness 11 test
Carpal tunnel syndrome3 tests
Cataract 16, multiple types2 tests
Cataract 402 tests
Cataract 412 tests
Cataract, posterior polar, 42 tests
Cellular mosaicism2 tests
Central core disease2 tests
Central precocious puberty1 test
Cerebellar ataxia infantile with progressive external ophthalmoplegia5 tests
Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant2 tests
Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 14 tests
Cerebral cavernous malformations 11 test
Cerebral cavernous malformations 21 test
Cerebral cavernous malformations 31 test
Cerebral creatine deficiency syndrome1 test
Cerebral folate deficiency5 tests
Cerebro-oculo-facio-skeletal syndrome1 test
Cerebrooculonasal syndrome1 test
Ceroid lipofuscinosis neuronal 17 tests
Ceroid lipofuscinosis neuronal 105 tests
Ceroid lipofuscinosis neuronal 27 tests
Ceroid lipofuscinosis neuronal 4B autosomal dominant3 tests
Ceroid lipofuscinosis neuronal 57 tests
Ceroid lipofuscinosis neuronal 66 tests
Ceroid lipofuscinosis neuronal 76 tests
Ceroid lipofuscinosis neuronal 87 tests
Ceroid lipofuscinosis, neuronal, 113 tests
Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant6 tests
Charcot-Marie-Tooth disease2 tests
Charcot-Marie-Tooth disease and deafness1 test
Charcot-Marie-Tooth disease dominant intermediate 31 test
Charcot-Marie-Tooth disease type 2B19 tests
Charcot-Marie-Tooth disease type 2C2 tests
Charcot-Marie-Tooth disease type 2D1 test
Charcot-Marie-Tooth disease type 2E1 test
Charcot-Marie-Tooth disease type 2F1 test
Charcot-Marie-Tooth disease type 2I1 test
Charcot-Marie-Tooth disease type 2J1 test
Charcot-Marie-Tooth disease type 2K1 test
Charcot-Marie-Tooth disease, X-linked recessive, type 55 tests
Charcot-Marie-Tooth disease, axonal, type 2b1 test
Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive1 test
Charcot-Marie-Tooth disease, demyelinating, type 1b1 test
Charcot-Marie-Tooth disease, demyelinating, type 1d1 test
Charcot-Marie-Tooth disease, demyelinating, type 1f1 test
Charcot-Marie-Tooth disease, demyelinating, type 4f1 test
Charcot-Marie-Tooth disease, dominant intermediate C1 test
Charcot-Marie-Tooth disease, recessive intermediate A1 test
Charcot-Marie-Tooth disease, recessive intermediate c1 test
Charcot-Marie-Tooth disease, type 1C1 test
Charcot-Marie-Tooth disease, type 2A11 test
Charcot-Marie-Tooth disease, type 2A22 tests
Charcot-Marie-Tooth disease, type 2L1 test
Charcot-Marie-Tooth disease, type 2N1 test
Charcot-Marie-Tooth disease, type 4A1 test
Charcot-Marie-Tooth disease, type 4B11 test
Charcot-Marie-Tooth disease, type 4B21 test
Charcot-Marie-Tooth disease, type 4C1 test
Charcot-Marie-Tooth disease, type 4D1 test
Charcot-Marie-Tooth disease, type 4H1 test
Charcot-Marie-Tooth disease, type IA1 test
Child syndrome1 test
Childhood hypophosphatasia2 tests
Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia6 tests
Cholecystitis1 test
Cholestanol storage disease2 tests
Cholestasis of pregnancy1 test
Cholestasis, benign recurrent intrahepatic 11 test
Cholestasis, intrahepatic, of pregnancy 31 test
Chondrocalcinosis 24 tests
Chondrodysplasia Blomstrand type2 tests
Chondrodysplasia acromesomelic with genital anomalies3 tests
Chondroectodermal dysplasia3 tests
Chondrosarcoma3 tests
Choreoathetosis1 test
Choreoathetosis, hypothyroidism, and neonatal respiratory distress1 test
Choroid plexus papilloma1 test
Choroidal dystrophy, central areolar 25 tests
Choroideremia5 tests
Christianson syndrome6 tests
Chromosome 1q41-q42 deletion syndrome1 test
Chromosome 22q deletion1 test
Chromosome 7q11.23 deletion syndrome, distal, 1.2-mb2 tests
Chromosome 9q deletion syndrome4 tests
Chronic granulomatous disease, X-linked1 test
Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 21 test
Chronic infantile neurological, cutaneous and articular syndrome1 test
Chronic obstructive pulmonary disease1 test
Chudley-McCullough syndrome1 test
Ciliary dyskinesia, primary, 103 tests
Ciliary dyskinesia, primary, 113 tests
Ciliary dyskinesia, primary, 123 tests
Ciliary dyskinesia, primary, 133 tests
Ciliary dyskinesia, primary, 143 tests
Ciliary dyskinesia, primary, 153 tests
Ciliary dyskinesia, primary, 163 tests
Ciliary dyskinesia, primary, 21 test
Ciliary dyskinesia, primary, 33 tests
Ciliary dyskinesia, primary, 63 tests
Ciliary dyskinesia, primary, 73 tests
Ciliary dyskinesia, primary, 93 tests
Citrullinemia type I4 tests
Citrullinemia type II2 tests
Classical galactosemia, homozygous Duarte-type3 tests
Classical maple syrup urine disease1 test
Cleidocranial dysostosis2 tests
Cobalamin deficiency3 tests
Cockayne syndrome B1 test
Cockayne syndrome type A1 test
Coenzyme Q10 deficiency, primary 12 tests
Coenzyme Q10 deficiency, primary, 41 test
Coffin-Lowry syndrome5 tests
Cognitive impairment with or without cerebellar ataxia2 tests
Cohen syndrome5 tests
Cole disease2 tests
Coloboma of optic disc3 tests
Colorectal adenoma4 tests
Colorectal cancer 21 test
Colorectal cancer 45 tests
Colorectal cancer 55 tests
Colorectal cancer 84 tests
Colorectal cancer, hereditary, nonpolyposis, type 18 tests
Combined cellular and humoral immune defects with granulomas1 test
Combined deficiency of sialidase AND beta galactosidase4 tests
Combined immunodeficiency, X-linked1 test
Combined malonic and methylmalonic aciduria1 test
Combined oxidative phosphorylation deficiency 121 test
Combined oxidative phosphorylation deficiency 131 test
Combined saposin deficiency3 tests
Common variable immunodeficiency 11 test
Common variable immunodeficiency 8, with autoimmunity1 test
Complete trisomy 13 syndrome2 tests
Complete trisomy 18 syndrome2 tests
Complete trisomy 21 syndrome2 tests
Cone dystrophy 32 tests
Cone dystrophy 42 tests
Cone-rod dystrophy1 test
Cone-rod dystrophy 103 tests
Cone-rod dystrophy 112 tests
Cone-rod dystrophy 124 tests
Cone-rod dystrophy 136 tests
Cone-rod dystrophy 152 tests
Cone-rod dystrophy 163 tests
Cone-rod dystrophy 25 tests
Cone-rod dystrophy 36 tests
Cone-rod dystrophy 52 tests
Cone-rod dystrophy 65 tests
Cone-rod dystrophy 72 tests
Cone-rod dystrophy 93 tests
Cone-rod dystrophy X-linked 33 tests
Cone-rod dystrophy amelogenesis imperfecta2 tests
Cone-rod dystrophy, X-linked 17 tests
Congenital Cataracts, Facial Dysmorphism, and Neuropathy1 test
Congenital absence of salivary gland2 tests
Congenital adrenal hyperplasia2 tests
Congenital adrenal hypoplasia, X-linked1 test
Congenital bilateral absence of the vas deferens4 tests
Congenital central hypoventilation4 tests
Congenital chromosomal disease6 tests
Congenital contractural arachnodactyly4 tests
Congenital cystic disease of liver4 tests
Congenital defect of folate absorption1 test
Congenital diaphragmatic hernia1 test
Congenital disorder of deglycosylation1 test
Congenital disorder of glycosylation11 tests
Congenital disorder of glycosylation type 1B4 tests
Congenital disorder of glycosylation type 1C3 tests
Congenital disorder of glycosylation type 1D3 tests
Congenital disorder of glycosylation type 1E3 tests
Congenital disorder of glycosylation type 1F3 tests
Congenital disorder of glycosylation type 1G3 tests
Congenital disorder of glycosylation type 1H3 tests
Congenital disorder of glycosylation type 1I3 tests
Congenital disorder of glycosylation type 1J4 tests
Congenital disorder of glycosylation type 1K1 test
Congenital disorder of glycosylation type 1M3 tests
Congenital disorder of glycosylation type 1N3 tests
Congenital disorder of glycosylation type 1O4 tests
Congenital disorder of glycosylation type 1P2 tests
Congenital disorder of glycosylation type 1Q2 tests
Congenital disorder of glycosylation type 1t3 tests
Congenital disorder of glycosylation type 1u1 test
Congenital disorder of glycosylation type 2B5 tests
Congenital disorder of glycosylation type 2C3 tests
Congenital disorder of glycosylation type 2D3 tests
Congenital disorder of glycosylation type 2E3 tests
Congenital disorder of glycosylation type 2F3 tests
Congenital disorder of glycosylation type 2G3 tests
Congenital disorder of glycosylation type 2H3 tests
Congenital disorder of glycosylation type 2J2 tests
Congenital disorder of glycosylation type 2L2 tests
Congenital disorder of glycosylation type 2i2 tests
Congenital disorder of glycosylation type 2k1 test
Congenital dyserythropoietic anemia, type II2 tests
Congenital generalized lipodystrophy type 11 test
Congenital generalized lipodystrophy type 22 tests
Congenital hyperammonemia, type I1 test
Congenital hypomyelinating neuropathy1 test
Congenital hypothyroidism6 tests
Congenital muscular dystrophy, LMNA-related9 tests
Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B511 tests
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A59 tests
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A210 tests
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A62 tests
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A74 tests
Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B110 tests
Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B210 tests
Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B38 tests
Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B64 tests
Congenital muscular dystrophy-dystroglycanopathy without mental retardation, type B410 tests
Congenital muscular hypertrophy-cerebral syndrome6 tests
Congenital myasthenic syndrome 131 test
Congenital myasthenic syndrome 1B, fast-channel2 tests
Congenital myasthenic syndrome with tubular aggregates 11 test
Congenital myasthenic syndrome, acetazolamide-responsive2 tests
Congenital myopathy with fiber type disproportion4 tests
Congenital ocular coloboma3 tests
Congenital order of glycosylation type 1r2 tests
Congenital sensory neuropathy with selective loss of small myelinated fibers1 test
Congenital stationary night blindness1 test
Congenital stationary night blindness, autosomal dominant 14 tests
Congenital stationary night blindness, autosomal dominant 23 tests
Congenital stationary night blindness, autosomal dominant 32 tests
Congenital stationary night blindness, type 1A2 tests
Congenital stationary night blindness, type 1B2 tests
Congenital stationary night blindness, type 1C2 tests
Congenital stationary night blindness, type 1D2 tests
Congenital stationary night blindness, type 1E2 tests
Congenital stationary night blindness, type 1F2 tests
Congenital stationary night blindness, type 2A3 tests
Congenital stationary night blindness, type 2B4 tests
Conotruncal heart malformations4 tests
Corneal fragility keratoglobus, blue sclerae AND joint hypermobility1 test
Cornelia de Lange syndrome 17 tests
Cornelia de Lange syndrome 32 tests
Cornelia de Lange syndrome 41 test
Cornelia de Lange syndrome 51 test
Corpus callosum, agenesis of, with mental retardation, ocular coloboma, and micrognathia3 tests
Corpus callosum, partial agenesis of, X-linked3 tests
Cortical dysplasia, complex, with other brain malformations 12 tests
Cortical dysplasia-focal epilepsy syndrome3 tests
Cortical malformations, occipital2 tests
Costello syndrome5 tests
Cousin syndrome2 tests
Cowden syndrome3 tests
Cowden syndrome 11 test
Cowden syndrome 23 tests
Cowden syndrome 34 tests
Coxa plana6 tests
Craniodiaphyseal dysplasia, autosomal dominant2 tests
Cranioectodermal dysplasia 12 tests
Cranioectodermal dysplasia 23 tests
Cranioectodermal dysplasia 31 test
Cranioectodermal dysplasia 41 test
Craniometaphyseal dysplasia, autosomal dominant4 tests
Creatine phosphokinase, elevated serum7 tests
Crigler-Najjar syndrome1 test
Crigler-Najjar syndrome, type II1 test
Crouzon syndrome3 tests
Crouzon syndrome with acanthosis nigricans4 tests
Cryptophthalmos syndrome2 tests
Curry-Hall syndrome3 tests
Cushing's symphalangism2 tests
Cushing's syndrome3 tests
Cutaneous malignant melanoma 14 tests
Cutaneous malignant melanoma 23 tests
Cutaneous malignant melanoma 31 test
Cutaneous malignant melanoma 92 tests
Cutaneous telangiectasia and cancer syndrome, familial1 test
Cutis Gyrata syndrome of Beare and Stevenson3 tests
Cutis laxa with osteodystrophy6 tests
Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities2 tests
Cutis laxa, X-linked1 test
Cutis laxa, autosomal dominant4 tests
Cutis laxa, autosomal dominant 23 tests
Cyclical neutropenia1 test
Cystic fibrosis13 tests
Cystinosis, atypical nephropathic1 test
Cystinosis, ocular nonnephropathic1 test
Cytochrome c oxidase i deficiency1 test
Cytochrome-c oxidase deficiency1 test
Czech dysplasia metatarsal type7 tests
DE SANCTIS-CACCHIONE SYNDROME1 test
DFNA 2 Nonsyndromic Hearing Loss1 test
DNM2-related intermediate Charcot-Marie-Tooth neuropathy2 tests
Dandy-Walker like malformation with atrioventricular septal defect1 test
Danon disease10 tests
Deafness with labyrinthine aplasia microtia and microdontia (LAMM)1 test
Deafness, X-linked 13 tests
Deafness, X-linked 21 test
Deafness, X-linked 41 test
Deafness, autosomal dominant 11 test
Deafness, autosomal dominant 101 test
Deafness, autosomal dominant 114 tests
Deafness, autosomal dominant 121 test
Deafness, autosomal dominant 135 tests
Deafness, autosomal dominant 203 tests
Deafness, autosomal dominant 221 test
Deafness, autosomal dominant 231 test
Deafness, autosomal dominant 251 test
Deafness, autosomal dominant 281 test
Deafness, autosomal dominant 2b1 test
Deafness, autosomal dominant 361 test
Deafness, autosomal dominant 39, with dentinogenesis imperfecta 11 test
Deafness, autosomal dominant 3a1 test
Deafness, autosomal dominant 3b1 test
Deafness, autosomal dominant 41 test
Deafness, autosomal dominant 441 test
Deafness, autosomal dominant 481 test
Deafness, autosomal dominant 4b1 test
Deafness, autosomal dominant 51 test
Deafness, autosomal dominant 641 test
Deafness, autosomal dominant 91 test
Deafness, autosomal dominant nonsyndromic sensorineural 171 test
Deafness, autosomal recessive 124 tests
Deafness, autosomal recessive 151 test
Deafness, autosomal recessive 184 tests
Deafness, autosomal recessive 1A3 tests
Deafness, autosomal recessive 1b1 test
Deafness, autosomal recessive 24 tests
Deafness, autosomal recessive 211 test
Deafness, autosomal recessive 221 test
Deafness, autosomal recessive 234 tests
Deafness, autosomal recessive 241 test
Deafness, autosomal recessive 251 test
Deafness, autosomal recessive 281 test
Deafness, autosomal recessive 291 test
Deafness, autosomal recessive 31 test
Deafness, autosomal recessive 301 test
Deafness, autosomal recessive 314 tests
Deafness, autosomal recessive 351 test
Deafness, autosomal recessive 371 test
Deafness, autosomal recessive 391 test
Deafness, autosomal recessive 421 test
Deafness, autosomal recessive 482 tests
Deafness, autosomal recessive 491 test
Deafness, autosomal recessive 535 tests
Deafness, autosomal recessive 591 test
Deafness, autosomal recessive 61 test
Deafness, autosomal recessive 611 test
Deafness, autosomal recessive 631 test
Deafness, autosomal recessive 671 test
Deafness, autosomal recessive 71 test
Deafness, autosomal recessive 741 test
Deafness, autosomal recessive 771 test
Deafness, autosomal recessive 791 test
Deafness, autosomal recessive 81 test
Deafness, autosomal recessive 862 tests
Deafness, autosomal recessive 91 test
Deafness, autosomal recessive 911 test
Deafness, digenic, GJB2/GJB64 tests
Deafness, nonsyndromic sensorineural, mitochondrial2 tests
Deficiency of 3-hydroxyacyl-CoA dehydrogenase1 test
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase6 tests
Deficiency of acetyl-CoA acetyltransferase2 tests
Deficiency of alpha-mannosidase8 tests
Deficiency of aromatic-L-amino-acid decarboxylase1 test
Deficiency of butyryl-CoA dehydrogenase3 tests
Deficiency of galactokinase5 tests
Deficiency of glycerol kinase3 tests
Deficiency of guanidinoacetate methyltransferase2 tests
Deficiency of hyaluronoglucosaminidase2 tests
Deficiency of hydroxymethylglutaryl-CoA lyase4 tests
Deficiency of isobutyryl-CoA dehydrogenase3 tests
Deficiency of malonyl-CoA decarboxylase3 tests
Deficiency of steroid 11-beta-monooxygenase1 test
Deficiency of steroid 17-alpha-monooxygenase1 test
Dejerine-Sottas disease1 test
Dent disease 12 tests
Dent disease 21 test
Denticles1 test
Dentinogenesis imperfecta - Shield's type II1 test
Dentinogenesis imperfecta - Shield's type III1 test
Dermatofibrosis lenticularis disseminata2 tests
Desbuquois dysplasia 12 tests
Desmoid disease, hereditary1 test
Desmosterolosis2 tests
DiGeorge sequence1 test
DiGeorge syndrome/velocardiofacial syndrome complex 22 tests
Diabetes mellitus AND insipidus with optic atrophy AND deafness2 tests
Diabetes mellitus type 12 tests
Diabetes mellitus type 25 tests
Diabetes mellitus, insulin-dependent, 21 test
Diabetes mellitus, insulin-dependent, 202 tests
Diabetes mellitus, ketosis-prone1 test
Diabetes mellitus, neonatal, with congenital hypothyroidism1 test
Diabetes mellitus, noninsulin-dependent, 11 test
Diabetes mellitus, permanent neonatal, with cerebellar agenesis1 test
Diaphyseal dysplasia2 tests
Diarrhea 5, with tufting enteropathy, congenital1 test
Diastrophic dysplasia3 tests
Diffuse mesangial sclerosis1 test
Digital arthropathy-brachydactyly, familial2 tests
Digital clubbing, isolated congenital2 tests
Digitorenocerebral syndrome2 tests
Dihydropteridine reductase deficiency1 test
Dihydropyrimidinase deficiency1 test
Dihydropyrimidine dehydrogenase deficiency1 test
Dilated cardiomyopathy3 tests
Dilated cardiomyopathy 1A9 tests
Dilated cardiomyopathy 1AA2 tests
Dilated cardiomyopathy 1BB3 tests
Dilated cardiomyopathy 1C3 tests
Dilated cardiomyopathy 1CC2 tests
Dilated cardiomyopathy 1DD2 tests
Dilated cardiomyopathy 1E6 tests
Dilated cardiomyopathy 1EE1 test
Dilated cardiomyopathy 1FF3 tests
Dilated cardiomyopathy 1G7 tests
Dilated cardiomyopathy 1HH2 tests
Dilated cardiomyopathy 1I3 tests
Dilated cardiomyopathy 1II2 tests
Dilated cardiomyopathy 1J1 test
Dilated cardiomyopathy 1JJ1 test
Dilated cardiomyopathy 1KK2 tests
Dilated cardiomyopathy 1L7 tests
Dilated cardiomyopathy 1M2 tests
Dilated cardiomyopathy 1N5 tests
Dilated cardiomyopathy 1O1 test
Dilated cardiomyopathy 1P2 tests
Dilated cardiomyopathy 1R3 tests
Dilated cardiomyopathy 1S4 tests
Dilated cardiomyopathy 1T1 test
Dilated cardiomyopathy 1W2 tests
Dilated cardiomyopathy 1X12 tests
Dilated cardiomyopathy 1Y3 tests
Dilated cardiomyopathy 1Z3 tests
Dilated cardiomyopathy 2A3 tests
Dilated cardiomyopathy 3B7 tests
Disorder of amino acid metabolism5 tests
Disorder of fatty acid metabolism4 tests
Disorder of organic acid metabolism5 tests
Disorder of the urea cycle metabolism1 test
Disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency1 test
Distal arthrogryposis type 2B4 tests
Distal hereditary motor neuronopathy type 2A1 test
Distal hereditary motor neuronopathy type 2B1 test
Distal hereditary motor neuronopathy type 53 tests
Distal hereditary motor neuronopathy type 5B1 test
Distal hereditary motor neuronopathy type 7B1 test
Distal myopathy Markesbery-Griggs type5 tests
Distal myopathy, Tateyama type7 tests
Distal spinal muscular atrophy, X-linked 31 test
Distal spinal muscular atrophy, autosomal recessive 41 test
Distal spinal muscular atrophy, congenital nonprogressive2 tests
Dizygotic twins1 test
Dominant hereditary optic atrophy4 tests
Doyne honeycomb retinal dystrophy3 tests
Drash syndrome4 tests
Duane-radial ray syndrome3 tests
Dubin-Johnson syndrome1 test
Duchenne muscular dystrophy10 tests
Dyggve-Melchior-Clausen syndrome2 tests
Dyskeratosis congenita X-linked3 tests
Dyskeratosis congenita, autosomal dominant, 22 tests
Dysmorphic features2 tests
Dystonia 11 test
Dystonia 102 tests
Dystonia 3, torsion, X-linked1 test
Dystonia 6, torsion1 test
Dystonia 93 tests
Dystonia, dopa-responsive, with or without hyperphenylalaninemia, autosomal recessive1 test
Dystonia, primary cervical1 test
Dystransthyretinemic euthyroidal hyperthyroxinemia3 tests
Dystrophinopathies2 tests
EEM syndrome5 tests
Early infantile epileptic encephalopathy 105 tests
Early infantile epileptic encephalopathy 112 tests
Early infantile epileptic encephalopathy 122 tests
Early infantile epileptic encephalopathy 132 tests
Early infantile epileptic encephalopathy 142 tests
Early infantile epileptic encephalopathy 153 tests
Early infantile epileptic encephalopathy 162 tests
Early infantile epileptic encephalopathy 24 tests
Early infantile epileptic encephalopathy 42 tests
Early infantile epileptic encephalopathy 52 tests
Early infantile epileptic encephalopathy 72 tests
Early infantile epileptic encephalopathy 85 tests
Early infantile epileptic encephalopathy 96 tests
Early myoclonic encephalopathy2 tests
Early repolarization associated with ventricular fibrillation1 test
Ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant1 test
Ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive1 test
Ectodermal dysplasia, X-linked1 test
Ectopia lentis, isolated, autosomal dominant6 tests
Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 32 tests
Ehlers-Danlos syndrome1 test
Ehlers-Danlos syndrome progeroid type3 tests
Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss1 test
Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form3 tests
Ehlers-Danlos syndrome, classic type7 tests
Ehlers-Danlos syndrome, hydroxylysine-deficient1 test
Ehlers-Danlos syndrome, musculocontractural type4 tests
Ehlers-Danlos syndrome, procollagen proteinase deficient5 tests
Ehlers-Danlos syndrome, progeroid type, 22 tests
Ehlers-Danlos syndrome, type 33 tests
Ehlers-Danlos syndrome, type 43 tests
Ehlers-Danlos syndrome, type vii, autosomal recessive1 test
Eichsfeld type congenital muscular dystrophy6 tests
Eiken skeletal dysplasia2 tests
Emery-Dreifuss muscular dystrophy 1, X-linked6 tests
Emery-Dreifuss muscular dystrophy 4, autosomal dominant1 test
Emery-Dreifuss muscular dystrophy 5, autosomal dominant1 test
Emery-Dreifuss muscular dystrophy 61 test
Emery-Dreifuss muscular dystrophy 7, autosomal dominant3 tests
Emery-Dreifuss muscular dystrophy, X-linked1 test
Encephalopathy, progressive, with or without lipodystrophy1 test
Endocrine-cerebroosteodysplasia2 tests
Endometrial carcinoma13 tests
Endplate acetylcholinesterase deficiency2 tests
Enhanced s-cone syndrome2 tests
Enlarged vestibular aqueduct syndrome3 tests
Epidermal nevus6 tests
Epidermal nevus syndrome3 tests
Epidermolysa bullosa simplex and limb girdle muscular dystrophy5 tests
Epidermolysis bullosa1 test
Epidermolysis bullosa simplex with pyloric atresia5 tests
Epidermolysis bullosa simplex, Ogna type5 tests
Epidermolysis bullosa, lethal acantholytic3 tests
Epilepsy juvenile absence1 test
Epilepsy, X-linked, with variable learning disabilities and behavior disorders5 tests
Epilepsy, childhood absence 52 tests
Epilepsy, familial temporal lobe, 52 tests
Epilepsy, focal, with speech disorder and with or without mental retardation2 tests
Epilepsy, lateral temporal lobe, autosomal dominant2 tests
Epilepsy, nocturnal frontal lobe, 52 tests
Epilepsy, nocturnal frontal lobe, type 12 tests
Epilepsy, nocturnal frontal lobe, type 32 tests
Epilepsy, nocturnal frontal lobe, type 42 tests
Epilepsy, progressive myoclonic 35 tests
Epilepsy, progressive myoclonic 4, with or without renal failure2 tests
Epilepsy, progressive myoclonic 51 test
Epilepsy, progressive myoclonic 62 tests
Epileptic encephalopathy, early infantile, 16 tests
Epileptic encephalopathy, early infantile, 191 test
Epileptic encephalopathy, early infantile, 361 test
Epiphyseal dysplasia, multiple, with myopia and conductive deafness7 tests
Episodic ataxia1 test
Episodic ataxia type 12 tests
Episodic ataxia type 21 test
Episodic ataxia, type 53 tests
Episodic ataxia, type 61 test
Epstein syndrome1 test
Erythrocyte AMP deaminase deficiency4 tests
Erythrocytosis, familial, 22 tests
Erythrokeratodermia variabilis1 test
Essential thrombocythemia2 tests
Ethylmalonic encephalopathy1 test
Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis1 test
Exudative vitreoretinopathy 12 tests
Exudative vitreoretinopathy 46 tests
Exudative vitreoretinopathy 53 tests
FG syndrome5 tests
FG syndrome 29 tests
FG syndrome 45 tests
FLNA related disorders1 test
FRAXE6 tests
Fabry disease12 tests
Facioscapulohumeral muscular dystrophy 21 test
Failure of tooth eruption, primary2 tests
Familial Mediterranean fever2 tests
Familial X-linked hypophosphatemic vitamin D refractory rickets2 tests
Familial adenomatous polyposis 13 tests
Familial amyloid nephropathy with urticaria AND deafness1 test
Familial atrial fibrillation1 test
Familial benign pemphigus1 test
Familial cancer of breast2 tests
Familial cold urticaria1 test
Familial colorectal cancer6 tests
Familial dysautonomia4 tests
Familial expansile osteolysis3 tests
Familial exudative vitreoretinopathy, X-linked5 tests
Familial febrile seizures 82 tests
Familial gynecomastia, due to increased aromatase activity1 test
Familial hemiplegic migraine type 11 test
Familial hemiplegic migraine type 22 tests
Familial hemiplegic migraine type 35 tests
Familial hyperaldosteronism type 32 tests
Familial hypercholesterolemia1 test
Familial hypertrophic cardiomyopathy 19 tests
Familial hypertrophic cardiomyopathy 103 tests
Familial hypertrophic cardiomyopathy 113 tests
Familial hypertrophic cardiomyopathy 122 tests
Familial hypertrophic cardiomyopathy 133 tests
Familial hypertrophic cardiomyopathy 141 test
Familial hypertrophic cardiomyopathy 152 tests
Familial hypertrophic cardiomyopathy 162 tests
Familial hypertrophic cardiomyopathy 172 tests
Familial hypertrophic cardiomyopathy 182 tests
Familial hypertrophic cardiomyopathy 23 tests
Familial hypertrophic cardiomyopathy 202 tests
Familial hypertrophic cardiomyopathy 231 test
Familial hypertrophic cardiomyopathy 33 tests
Familial hypertrophic cardiomyopathy 43 tests
Familial hypertrophic cardiomyopathy 64 tests
Familial hypertrophic cardiomyopathy 73 tests
Familial hypertrophic cardiomyopathy 83 tests
Familial hypertrophic cardiomyopathy 97 tests
Familial hypoplastic, glomerulocystic kidney2 tests
Familial infantile myasthenia2 tests
Familial juvenile gout1 test
Familial mediterranean fever, autosomal dominant3 tests
Familial medullary thyroid carcinoma4 tests
Familial multiple polyposis syndrome4 tests
Familial pancreatic carcinoma1 test
Familial partial lipodystrophy 29 tests
Familial partial lipodystrophy 31 test
Familial partial lipodystrophy 51 test
Familial restrictive cardiomyopathy 13 tests
Familial restrictive cardiomyopathy 33 tests
Fanconi anemia2 tests
Fanconi anemia, complementation group B3 tests
Fanconi anemia, complementation group C2 tests
Fanconi anemia, complementation group D11 test
Fanconi anemia, complementation group J1 test
Fanconi anemia, complementation group N3 tests
Fanconi anemia, complementation group O1 test
Fanconi-Bickel syndrome3 tests
Farber's lipogranulomatosis1 test
Favism, susceptibility to1 test
Febrile seizures, familial, 112 tests
Febrile seizures, familial, 46 tests
Fechtner syndrome1 test
Feingold syndrome 13 tests
Fibrochondrogenesis7 tests
Fibrochondrogenesis 25 tests
Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement2 tests
Fibular hypoplasia and complex brachydactyly3 tests
Fleck retina, familial benign3 tests
Floating-Harbor syndrome1 test
Focal cortical dysplasia of Taylor5 tests
Focal dermal hypoplasia3 tests
Foveal hypoplasia and presenile cataract syndrome3 tests
Fragile X syndrome9 tests
Fragile X tremor/ataxia syndrome3 tests
Frank Ter Haar syndrome2 tests
Frasier syndrome2 tests
Friedreich ataxia 11 test
Frontometaphyseal dysplasia8 tests
Frontotemporal dementia, ubiquitin-positive3 tests
Fructose-biphosphatase deficiency2 tests
Fucosidosis7 tests
Fuhrmann syndrome2 tests
Fukuyama congenital muscular dystrophy12 tests
Fumarase deficiency4 tests
GLUT1 deficiency syndrome 15 tests
GLUT1 deficiency syndrome 23 tests
GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY2 tests
GM1 gangliosidosis5 tests
GM1 gangliosidosis type 22 tests
GM2-gangliosidosis, B, B1, AB variant1 test
GRACILE syndrome1 test
Galactosemia2 tests
Galactosylceramide beta-galactosidase deficiency7 tests
Gallbladder disease 41 test
Gamma-aminobutyric acid transaminase deficiency1 test
Ganglioside sialidase deficiency6 tests
Gangliosidosis GM1 type 32 tests
Gardner syndrome2 tests
Gastrointestinal stromal tumor3 tests
Gaucher disease10 tests
Gaucher disease type 3C2 tests
Gaucher disease, atypical, due to saposin C deficiency3 tests
Gaucher disease, perinatal lethal2 tests
Gaucher's disease, type 12 tests
Geleophysic dysplasia 26 tests
Generalized epilepsy and paroxysmal dyskinesia2 tests
Generalized epilepsy with febrile seizures plus, type 15 tests
Generalized epilepsy with febrile seizures plus, type 25 tests
Generalized epilepsy with febrile seizures plus, type 72 tests
Geroderma osteodysplastica2 tests
Ghosal syndrome2 tests
Giant axonal neuropathy1 test
Gilbert's syndrome1 test
Gingival fibromatosis 14 tests
Glaucoma 3, primary congenital, d1 test
Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset1 test
Glaucoma, congenital2 tests
Glaucoma, normal tension, susceptibility to1 test
Glioma susceptibility 31 test
Global developmental delay4 tests
Glomerulocystic kidney disease with hyperuricemia and isosthenuria1 test
Glucose 6 phosphate dehydrogenase deficiency2 tests
Glucose-6-phosphate transport defect5 tests
Glutaric aciduria, type 15 tests
Glutaric aciduria, type 24 tests
Glutaryl-CoA oxidase deficiency1 test
Glycogen storage disease2 tests
Glycogen storage disease 0, muscle3 tests
Glycogen storage disease II, adult form2 tests
Glycogen storage disease IIIa1 test
Glycogen storage disease IXb3 tests
Glycogen storage disease IXc2 tests
Glycogen storage disease of heart, lethal congenital5 tests
Glycogen storage disease type 133 tests
Glycogen storage disease type 1A4 tests
Glycogen storage disease type III4 tests
Glycogen storage disease type IXa12 tests
Glycogen storage disease type X2 tests
Glycogen storage disease, type II14 tests
Glycogen storage disease, type IV4 tests
Glycogen storage disease, type V10 tests
Glycogen storage disease, type VI3 tests
Glycogen storage disease, type VII3 tests
Glycosylphosphatidylinositol deficiency1 test
Gnathodiaphyseal dysplasia8 tests
Goldberg-Shprintzen megacolon syndrome2 tests
Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance2 tests
Gonadotropin-independent familial sexual precocity1 test
Gorlin syndrome3 tests
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative1 test
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III1 test
Grebe syndrome3 tests
Greig cephalopolysyndactyly syndrome4 tests
Growth hormone insensitivity with immunodeficiency3 tests
Guillain-Barre syndrome, familial1 test
Haim-Munk syndrome1 test
Hajdu-Cheney syndrome3 tests
Hamartoma of hypothalamus4 tests
Hay-Wells syndrome of ectodermal dysplasia2 tests
Hb SS disease1 test
Heart-hand syndrome, Slovenian type9 tests
Heme oxygenase 1 deficiency1 test
Hemochromatosis type 13 tests
Hemophagocytic lymphohistiocytosis, familial, 21 test
Hemophagocytic lymphohistiocytosis, familial, 51 test
Hepatic adenomas, familial2 tests
Hepatic methionine adenosyltransferase deficiency1 test
Hepatocellular carcinoma1 test
Hereditary diffuse gastric cancer7 tests
Hereditary factor IX deficiency disease1 test
Hereditary factor XI deficiency disease1 test
Hereditary fructosuria1 test
Hereditary gingival fibromatosis1 test
Hereditary hearing loss and deafness1 test
Hereditary hemorrhagic telangiectasia type 23 tests
Hereditary insensitivity to pain with anhidrosis1 test
Hereditary leiomyomatosis and renal cell cancer4 tests
Hereditary liability to pressure palsies1 test
Hereditary mixed polyposis syndrome 12 tests
Hereditary mixed polyposis syndrome 21 test
Hereditary motor and sensory neuropathy with optic atrophy2 tests
Hereditary myopathy with early respiratory failure5 tests
Hereditary nonpolyposis colorectal cancer type 48 tests
Hereditary nonpolyposis colorectal cancer type 511 tests
Hereditary nonpolyposis colorectal cancer type 63 tests
Hereditary pancreatitis5 tests
Hereditary sensory and autonomic neuropathy type IIA1 test
Hereditary sensory and autonomic neuropathy type IIB1 test
Hereditary sensory neuropathy type 1D1 test
Hereditary sensory neuropathy type IE1 test
Hermansky Pudlak syndrome 22 tests
Hermansky-Pudlak syndrome1 test
Hermansky-Pudlak syndrome 13 tests
Hermansky-Pudlak syndrome 32 tests
Hermansky-Pudlak syndrome 43 tests
Hermansky-Pudlak syndrome 51 test
Hermansky-Pudlak syndrome 63 tests
Hermansky-Pudlak syndrome 72 tests
Hermansky-Pudlak syndrome 82 tests
Hermansky-Pudlak syndrome 92 tests
Heterotaxy, visceral, 4, autosomal1 test
Heterotaxy, visceral, X-linked1 test
Heterotopia, periventricular, autosomal recessive2 tests
Hidrotic ectodermal dysplasia syndrome1 test
Hirschsprung disease ganglioneuroblastoma1 test
Histiocytic medullary reticulosis2 tests
Histiocytosis-lymphadenopathy plus syndrome1 test
Holocarboxylase synthetase deficiency4 tests
Holoprosencephaly 22 tests
Holoprosencephaly 34 tests
Holoprosencephaly 41 test
Holoprosencephaly 51 test
Holoprosencephaly 73 tests
Holoprosencephaly 92 tests
Holt-Oram syndrome2 tests
Homocysteinemia due to MTHFR deficiency2 tests
Homocystinuria2 tests
Homocystinuria due to CBS deficiency9 tests
Homocystinuria, cblD type, variant 11 test
Homocystinuria-Megaloblastic anemia due to defect in cobalamin metabolism, cblE complementation type1 test
Huntington's chorea1 test
Hurler syndrome2 tests
Hutchinson-Gilford syndrome9 tests
Hydatidiform mole1 test
Hydrolethalus syndrome 11 test
Hydrolethalus syndrome 27 tests
Hyperammonemia, type III1 test
Hypercholanemia, familial2 tests
Hyperhomocysteinemia1 test
Hyperimmunoglobulin D with periodic fever2 tests
Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive2 tests
Hyperimmunoglobulin E syndrome2 tests
Hyperinsulinemic hypoglycemia familial 32 tests
Hyperinsulinemic hypoglycemia familial 52 tests
Hyperinsulinemic hypoglycemia, familial, 43 tests
Hyperkalemic Periodic Paralysis Type 12 tests
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome1 test
Hyperparathyroidism1 test
Hyperparathyroidism 11 test
Hyperparathyroidism 21 test
Hyperphenylalaninemia, bh4-deficient, a, due to partial pts deficiency1 test
Hyperphosphatasemia tarda2 tests
Hyperphosphatasemia with bone disease2 tests
Hyperphosphatasia with mental retardation syndrome 13 tests
Hyperphosphatasia with mental retardation syndrome 21 test
Hypertrichotic osteochondrodysplasia1 test
Hypocalcemia, autosomal dominant 13 tests
Hypocalciuric hypercalcemia, familial, type 13 tests
Hypoceruloplasminemia1 test
Hypochondroplasia4 tests
Hypoglycemia with deficiency of glycogen synthetase in the liver3 tests
Hypoglycemia, neonatal, simulating foetopathia diabetica1 test
Hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities1 test
Hypogonadotropic hypogonadism 10 with or without anosmia1 test
Hypogonadotropic hypogonadism 11 with or without anosmia1 test
Hypogonadotropic hypogonadism 12 with or without anosmia1 test
Hypogonadotropic hypogonadism 13 with or without anosmia1 test
Hypogonadotropic hypogonadism 7 with or without anosmia1 test
Hypogonadotropic hypogonadism 8 with or without anosmia1 test
Hypogonadotropic hypogonadism 9 with or without anosmia1 test
Hypokalemic periodic paralysis, type 22 tests
Hypomyelination, global cerebral2 tests
Hypoparathyroidism retardation dysmorphism syndrome3 tests
Hypophosphatemic rickets, X-linked recessive2 tests
Hypophosphatemic rickets, autosomal recessive, 22 tests
Hypoplastic left heart syndrome 26 tests
Hypothyroidism, congenital, nongoitrous, 53 tests
Hypotrichosis 71 test
Hystrix-like ichthyosis with deafness1 test
I cell disease4 tests
IFAP syndrome with or without BRESHECK syndrome3 tests
IVIC syndrome3 tests
Ichthyosis prematurity syndrome1 test
Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis1 test
Ichthyosis, spastic quadriplegia, and mental retardation2 tests
Idiopathic basal ganglia calcification 11 test
Idiopathic fibrosing alveolitis, chronic form2 tests
Idiopathic generalized epilepsy1 test
Ige responsiveness, atopic1 test
Immune dysfunction with T-cell inactivation due to calcium entry defect 11 test
Immune dysfunction with T-cell inactivation due to calcium entry defect 22 tests
Immunodeficiency 132 tests
Immunodeficiency 182 tests
Immunodeficiency 192 tests
Immunodeficiency due to defect in cd3-zeta1 test
Immunodeficiency with hyper IgM type 11 test
Immunodeficiency with hyper IgM type 21 test
Inclusion body myopathy 25 tests
Inclusion body myopathy 31 test
Indifference to pain, congenital, autosomal recessive2 tests
Infantile GM1 gangliosidosis2 tests
Infantile Parkinsonism-dystonia1 test
Infantile Refsum's disease2 tests
Infantile convulsions and paroxysmal choreoathetosis, familial2 tests
Infantile cortical hyperostosis5 tests
Infantile hypophosphatasia1 test
Infantile myofibromatosis 11 test
Infantile nephronophthisis8 tests
Infertility4 tests
Infertility due to oligospermia2 tests
Inflammatory bowel disease 11 test
Inflammatory bowel disease 141 test
Inflammatory bowel disease 28, autosomal recessive1 test
Insulin-dependent diabetes mellitus secretory diarrhea syndrome2 tests
Insulin-like growth factor 1 resistance to1 test
Insulin-like growth factor I deficiency1 test
Insulin-resistant diabetes mellitus AND acanthosis nigricans2 tests
Intellectual functioning disability4 tests
Interleukin 2 receptor, alpha, deficiency of1 test
Intermediate maple syrup urine disease type 21 test
Intestinal pseudoobstruction neuronal chronic idiopathic X-linked8 tests
Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies3 tests
Irido-corneo-trabecular dysgenesis6 tests
Iridogoniodysgenesis type13 tests
Iridogoniodysgenesis, dominant type4 tests
Islet cell hyperplasia2 tests
Isolated growth hormone deficiency type 1B2 tests
Isolated lutropin deficiency1 test
Isovaleryl-CoA dehydrogenase deficiency5 tests
Jackson-Weiss syndrome4 tests
Jankovic Rivera syndrome1 test
Jensen syndrome7 tests
Jervell and Lange-Nielsen syndrome 15 tests
Jervell and Lange-Nielsen syndrome 25 tests
Joubert syndrome 105 tests
Joubert syndrome 133 tests
Joubert syndrome 145 tests
Joubert syndrome 155 tests
Joubert syndrome 163 tests
Joubert syndrome 173 tests
Joubert syndrome 184 tests
Joubert syndrome 29 tests
Joubert syndrome 201 test
Joubert syndrome 35 tests
Joubert syndrome 49 tests
Joubert syndrome 511 tests
Joubert syndrome 66 tests
Joubert syndrome 77 tests
Joubert syndrome 83 tests
Joubert syndrome 98 tests
Juvenile macular degeneration and hypotrichosis4 tests
Juvenile myelomonocytic leukemia7 tests
Juvenile myoclonic epilepsy1 test
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke3 tests
Juvenile nephropathic cystinosis1 test
Juvenile neuronal ceroid lipofuscinosis8 tests
Juvenile polyposis of infancy1 test
Juvenile polyposis syndrome4 tests
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome6 tests
Juvenile retinoschisis2 tests
Juvenile-onset dystonia2 tests
Kabuki syndrome1 test
Kabuki syndrome 12 tests
Kabuki syndrome 21 test
Kahrizi syndrome1 test
Kallmann syndrome 23 tests
Kallmann syndrome 31 test
Kallmann syndrome 41 test
Kallmann syndrome 52 tests
Kallmann syndrome 62 tests
Kanzaki disease4 tests
Kartagener syndrome3 tests
Kearns Sayre syndrome3 tests
Kenny-Caffey syndrome type 13 tests
Keratitis, hereditary3 tests
Keratitis-ichthyosis-deafness syndrome, autosomal dominant1 test
Keratoderma palmoplantar deafness1 test
Keratosis palmoplantaris striata II3 tests
Keratosis pilaris decalvans1 test
Keratosis, seborrheic1 test
Keutel syndrome2 tests
Klinefelter's syndrome, XXY1 test
Kniest dysplasia7 tests
Known OR suspected fetal abnormality affecting management of mother1 test
Knuckle pads, deafness AND leukonychia syndrome1 test
Kowarski syndrome1 test
Krabbe disease atypical due to Saposin A deficiency3 tests
L-2-hydroxyglutaric aciduria1 test
L1 Syndrome2 tests
LEOPARD syndrome 18 tests
LEOPARD syndrome 25 tests
LEOPARD syndrome 33 tests
Lafora disease2 tests
Langer mesomelic dysplasia syndrome4 tests
Laron-type isolated somatotropin defect1 test
Larsen syndrome, dominant type2 tests
Late-onset retinal degeneration3 tests
Lchad deficiency with maternal acute fatty liver of pregnancy1 test
Leber congenital amaurosis1 test
Leber congenital amaurosis 15 tests
Leber congenital amaurosis 1011 tests
Leber congenital amaurosis 114 tests
Leber congenital amaurosis 123 tests
Leber congenital amaurosis 135 tests
Leber congenital amaurosis 144 tests
Leber congenital amaurosis 154 tests
Leber congenital amaurosis 164 tests
Leber congenital amaurosis 24 tests
Leber congenital amaurosis 34 tests
Leber congenital amaurosis 45 tests
Leber congenital amaurosis 53 tests
Leber congenital amaurosis 66 tests
Leber congenital amaurosis 75 tests
Leber congenital amaurosis 84 tests
Leber's optic atrophy1 test
Left ventricular noncompaction1 test
Left ventricular noncompaction 11 test
Left ventricular noncompaction 103 tests
Left ventricular noncompaction 63 tests
Legius syndrome2 tests
Leigh syndrome5 tests
Leigh syndrome due to mitochondrial complex I deficiency2 tests
Leigh syndrome, French Canadian type1 test
Lenz microphthalmia syndrome1 test
Leprechaunism syndrome2 tests
Leri Weill dyschondrosteosis4 tests
Lesch-Nyhan syndrome3 tests
Lethal Kniest-like syndrome2 tests
Lethal arthrogryposis with anterior horn cell disease1 test
Lethal congenital contracture syndrome 11 test
Lethal congenital contracture syndrome 52 tests
Lethal multiple pterygium syndrome2 tests
Lethal tight skin contracture syndrome11 tests
Leucine-induced hypoglycemia1 test
Leukocyte adhesion deficiency, type III2 tests
Leukoencephalopathy with dystonia and motor neuropathy1 test
Leukoencephalopathy with vanishing white matter12 tests
Levy-Hollister syndrome4 tests
Leydig cell agenesis1 test
Li-Fraumeni syndrome9 tests
Li-Fraumeni syndrome 13 tests
Li-Fraumeni syndrome 21 test
Liebenberg syndrome2 tests
Lig4 syndrome2 tests
Limb deficiencies distal with micrognathia2 tests
Limb-girdle muscular dystrophy2 tests
Limb-girdle muscular dystrophy, type 1A5 tests
Limb-girdle muscular dystrophy, type 1B11 tests
Limb-girdle muscular dystrophy, type 1C9 tests
Limb-girdle muscular dystrophy, type 2A8 tests
Limb-girdle muscular dystrophy, type 2B5 tests
Limb-girdle muscular dystrophy, type 2D7 tests
Limb-girdle muscular dystrophy, type 2E7 tests
Limb-girdle muscular dystrophy, type 2F9 tests
Limb-girdle muscular dystrophy, type 2G7 tests
Limb-girdle muscular dystrophy, type 2J5 tests
Limb-girdle muscular dystrophy, type 2L8 tests
Limb-girdle muscular dystrophy, type 2Q3 tests
Limb-girdle muscular dystrophy-dystroglycanopathy, type C110 tests
Limb-girdle muscular dystrophy-dystroglycanopathy, type C210 tests
Limb-girdle muscular dystrophy-dystroglycanopathy, type C38 tests
Limb-girdle muscular dystrophy-dystroglycanopathy, type C410 tests
Limb-girdle muscular dystrophy-dystroglycanopathy, type C511 tests
Limb-girdle muscular dystrophy-dystroglycanopathy, type C93 tests
Limb-mammary syndrome2 tests
Linear skin defects with multiple congenital anomalies 15 tests
Lipodystrophy, congenital generalized, type 32 tests
Lipodystrophy, congenital generalized, type 42 tests
Lissencephaly 16 tests
Lissencephaly 26 tests
Lissencephaly 2, X-linked5 tests
Lissencephaly 32 tests
Lissencephaly 42 tests
Lissencephaly, X-linked6 tests
Liver failure acute infantile1 test
Loeys-Dietz syndrome1 test
Loeys-Dietz syndrome 13 tests
Loeys-Dietz syndrome 23 tests
Loeys-Dietz syndrome 33 tests
Loeys-Dietz syndrome 42 tests
Long QT syndrome1 test
Long QT syndrome 15 tests
Long QT syndrome 103 tests
Long QT syndrome 113 tests
Long QT syndrome 123 tests
Long QT syndrome 132 tests
Long QT syndrome 24 tests
Long QT syndrome 36 tests
Long QT syndrome 55 tests
Long QT syndrome 64 tests
Long QT syndrome 97 tests
Long chain fatty acids, defect in transport of1 test
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency3 tests
Lowe syndrome3 tests
Lucey-Driscoll syndrome1 test
Lung cancer2 tests
Lymphangiomyomatosis5 tests
Lymphoproliferative syndrome 1, X-linked1 test
Lymphoproliferative syndrome 2, X-linked1 test
Lynch syndrome1 test
Lynch syndrome I10 tests
Lynch syndrome II10 tests
Lysinuric protein intolerance1 test
Lysosomal acid lipase deficiency4 tests
MASS syndrome6 tests
MECP2 duplication syndrome4 tests
METHYLCOBALAMIN DEFICIENCY, cblG TYPE1 test
METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE2 tests
METHYLMALONIC ACIDURIA, mut(-) TYPE1 test
METHYLMALONIC ACIDURIA, mut(0) TYPE2 tests
MYH-associated polyposis4 tests
Macrocephaly/autism syndrome6 tests
Macrothrombocytopenia and progressive sensorineural deafness1 test
Macular corneal dystrophy Type I1 test
Macular degeneration, X-linked atrophic7 tests
Macular dystrophy, vitelliform, adult-onset5 tests
Majeed syndrome1 test
Male infertility2 tests
Malignant hyperthermia susceptibility1 test
Malignant hyperthermia, susceptibility to, 13 tests
Malignant lymphoma, non-Hodgkin1 test
Malignant melanoma of skin1 test
Malignant tumor of esophagus3 tests
Malignant tumor of prostate3 tests
Malignant tumor of testis5 tests
Malignant tumor of urinary bladder3 tests
Malouf syndrome9 tests
Mandibuloacral dysostosis9 tests
Mandibuloacral dysplasia with type B lipodystrophy5 tests
Maple syrup urine disease4 tests
Maple syrup urine disease type 1B2 tests
Maple syrup urine disease, type 34 tests
Marfan syndrome7 tests
Marinesco-Sjögren syndrome5 tests
Marles Greenberg Persaud syndrome2 tests
Marshall syndrome6 tests
Marshall-Smith syndrome1 test
Martsolf syndrome2 tests
Mast syndrome1 test
Maturity-onset diabetes of the young, type 12 tests
Maturity-onset diabetes of the young, type 22 tests
Maturity-onset diabetes of the young, type 101 test
Maturity-onset diabetes of the young, type 111 test
Maturity-onset diabetes of the young, type 32 tests
Maturity-onset diabetes of the young, type 42 tests
Maturity-onset diabetes of the young, type 61 test
Maturity-onset diabetes of the young, type 71 test
Maturity-onset diabetes of the young, type 91 test
May-Hegglin anomaly1 test
McCune-Albright syndrome3 tests
McKusick Kaufman syndrome3 tests
Meacham syndrome2 tests
Meckel syndrome type 18 tests
Meckel syndrome type 27 tests
Meckel syndrome type 36 tests
Meckel syndrome type 411 tests
Meckel syndrome type 57 tests
Meckel syndrome type 68 tests
Meckel syndrome type 76 tests
Meckel syndrome type 83 tests
Meckel syndrome, type 101 test
Meckel syndrome, type 111 test
Meckel syndrome, type 91 test
Medium-chain acyl-coenzyme A dehydrogenase deficiency7 tests
Medullary cystic kidney disease 23 tests
Medulloblastoma2 tests
Megalencephalic leukoencephalopathy with subcortical cysts 11 test
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness1 test
Meier-Gorlin syndrome 21 test
Meier-Gorlin syndrome 31 test
Meier-Gorlin syndrome 41 test
Meier-Gorlin syndrome 51 test
Melanoma astrocytoma syndrome1 test
Melanoma-pancreatic cancer syndrome4 tests
Melnick-Fraser syndrome1 test
Melnick-Needles syndrome8 tests
Melorheostosis2 tests
Meningioma, familial4 tests
Menkes kinky-hair syndrome4 tests
Mental retardation 17, X-linked3 tests
Mental retardation 21, X-linked3 tests
Mental retardation 3, X-linked1 test
Mental retardation 30, X-linked3 tests
Mental retardation 46, X-linked2 tests
Mental retardation 58, X-linked3 tests
Mental retardation 63, X-linked3 tests
Mental retardation 9, X-linked3 tests
Mental retardation 91, X-linked3 tests
Mental retardation 92, X-linked2 tests
Mental retardation 95, X-linked2 tests
Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance7 tests
Mental retardation and microcephaly with pontine and cerebellar hypoplasia5 tests
Mental retardation with language impairment and with or without autistic features3 tests
Mental retardation with panhypopituitarism, X-linked4 tests
Mental retardation, CASK-related, X-linked2 tests
Mental retardation, X-linked 11 test
Mental retardation, X-linked 142 tests
Mental retardation, X-linked 193 tests
Mental retardation, X-linked 452 tests
Mental retardation, X-linked 724 tests
Mental retardation, X-linked 933 tests
Mental retardation, X-linked 963 tests
Mental retardation, X-linked 981 test
Mental retardation, X-linked, syndromic 101 test
Mental retardation, X-linked, syndromic 134 tests
Mental retardation, X-linked, syndromic 321 test
Mental retardation, X-linked, syndromic, Hedera type5 tests
Mental retardation, X-linked, syndromic, raymond type3 tests
Mental retardation, X-linked, syndromic, turner type3 tests
Mental retardation, X-linked, syndromic, wu type3 tests
Mental retardation, autosomal dominant 15 tests
Mental retardation, autosomal dominant 151 test
Mental retardation, autosomal dominant 22 tests
Mental retardation, autosomal dominant 61 test
Mental retardation, autosomal recessive 123 tests
Mental retardation, autosomal recessive 151 test
Mental retardation, autosomal recessive 73 tests
Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations6 tests
Mental retardation, syndromic 14, X-linked2 tests
Mental retardation, syndromic, Claes-Jensen type, X-linked4 tests
Mental retardation, with or without seizures, ARX-related, X-linked7 tests
Mental retardation-hypotonic facies syndrome X-linked, 14 tests
Merosin deficient congenital muscular dystrophy6 tests
Mesothelioma, malignant2 tests
Metabolic syndrome X1 test
Metachondromatosis6 tests
Metachromatic leukodystrophy6 tests
Metaphyseal anadysplasia 22 tests
Metaphyseal chondrodysplasia, Jansen type2 tests
Metaphyseal chondrodysplasia, Schmid type2 tests
Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly2 tests
Metaphyseal dysplasia without hypotrichosis1 test
Metatrophic dysplasia2 tests
Methylcrotonyl-CoA carboxylase deficiency3 tests
Methylmalonic acidemia3 tests
Methylmalonic acidemia with homocystinuria5 tests
Methylmalonic acidemia with homocystinuria cblD3 tests
Methylmalonic aciduria cblA type4 tests
Methylmalonic aciduria cblB type4 tests
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency4 tests
Methylmalonic aciduria due to transcobalamin receptor defect1 test
Methylmalonyl-CoA epimerase deficiency2 tests
Mevalonic aciduria2 tests
Michels syndrome1 test
Microarray Confirmation1 test
Microcephalic osteodysplastic primordial dwarfism type 23 tests
Microcephaly with mental retardation and digital anomalies1 test
Microcephaly, epilepsy, and diabetes syndrome1 test
Microcephaly, normal intelligence and immunodeficiency2 tests
Microcephaly, short stature, and polymicrogyria with or without seizures2 tests
Microdeletion syndromes2 tests
Microduplication syndromes2 tests
Microhydranencephaly2 tests
Microphthalmia syndromic 33 tests
Microphthalmia syndromic 53 tests
Microphthalmia syndromic 62 tests
Microphthalmia syndromic 92 tests
Microphthalmia, isolated 22 tests
Microphthalmia, isolated 52 tests
Microphthalmia, isolated, with coloboma 32 tests
Microphthalmia, isolated, with coloboma 54 tests
Microphthalmia, syndromic 112 tests
Microspherophakia1 test
Minicore myopathy with external ophthalmoplegia2 tests
Mitchell-Riley syndrome1 test
Mitochondrial DNA Deletion Syndromes1 test
Mitochondrial DNA depletion syndrome 4B, MNGIE type5 tests
Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)1 test
Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)1 test
Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria)1 test
Mitochondrial DNA depletion syndrome, hepatocerebral form1 test
Mitochondrial DNA-depletion syndrome 3, hepatocerebral1 test
Mitochondrial complex I deficiency5 tests
Mitochondrial complex II deficiency2 tests
Mitochondrial complex III deficiency2 tests
Mitochondrial complex III deficiency, nuclear type 21 test
Mitochondrial complex III deficiency, nuclear type 31 test
Mitochondrial complex III deficiency, nuclear type 41 test
Mitochondrial diseases5 tests
Mitochondrial myopathy1 test
Mitochondrial trifunctional protein deficiency4 tests
Miyoshi muscular dystrophy 15 tests
Miyoshi muscular dystrophy 38 tests
Mohr-Tranebjaerg syndrome7 tests
Monoamine oxidase A deficiency3 tests
Mononeuropathy of the median nerve, mild1 test
Morbid obesity1 test
Morquio syndrome1 test
Mowat-Wilson syndrome5 tests
Moyamoya disease 53 tests
Mucolipidosis II3 tests
Mucolipidosis III Gamma1 test
Mucolipidosis III alpha/beta, atypical1 test
Mucopolysaccharidosis4 tests
Mucopolysaccharidosis type I4 tests
Mucopolysaccharidosis type VI8 tests
Mucopolysaccharidosis type VII6 tests
Mucopolysaccharidosis, MPS-I-H/S3 tests
Mucopolysaccharidosis, MPS-I-S2 tests
Mucopolysaccharidosis, MPS-II7 tests
Mucopolysaccharidosis, MPS-III-A5 tests
Mucopolysaccharidosis, MPS-III-B4 tests
Mucopolysaccharidosis, MPS-III-C4 tests
Mucopolysaccharidosis, MPS-III-D3 tests
Mucopolysaccharidosis, MPS-IV-A6 tests
Mucopolysaccharidosis, MPS-IV-B6 tests
Muenke syndrome4 tests
Muir-Torré syndrome18 tests
Mulibrey nanism syndrome1 test
Multicentric osteolysis nephropathy2 tests
Multicentric osteolysis, nodulosis and arthropathy2 tests
Multiminicore Disease2 tests
Multiple congenital anomalies10 tests
Multiple congenital anomalies-hypotonia-seizures syndrome 21 test
Multiple congenital exostosis3 tests
Multiple endocrine neoplasia, type 15 tests
Multiple endocrine neoplasia, type 22 tests
Multiple endocrine neoplasia, type 2a9 tests
Multiple endocrine neoplasia, type 2b8 tests
Multiple epiphyseal dysplasia 13 tests
Multiple epiphyseal dysplasia 25 tests
Multiple epiphyseal dysplasia 33 tests
Multiple epiphyseal dysplasia 43 tests
Multiple epiphyseal dysplasia 53 tests
Multiple epiphyseal dysplasia 66 tests
Multiple exostoses type 23 tests
Multiple fibrofolliculomas6 tests
Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects1 test
Multiple myeloma1 test
Multiple pterygium syndrome Escobar type1 test
Multiple sulfatase deficiency4 tests
Multiple synostoses syndrome 23 tests
Multisystemic smooth muscle dysfunction syndrome3 tests
Muscle AMP deaminase deficiency6 tests
Muscle eye brain disease10 tests
Muscular dystrophy1 test
Muscular dystrophy, congenital, due to integrin alpha-7 deficiency7 tests
Muscular dystrophy, congenital, megaconial type1 test
Muscular dystrophy, limb-girdle, type 2r3 tests
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 111 tests
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 81 test
Muscular hypotonia1 test
Mutilating keratoderma2 tests
Myasthenia, limb-girdle, familial2 tests
Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency2 tests
Myasthenic syndrome, slow-channel congenital2 tests
Myhre syndrome2 tests
Myoclonic dystonia5 tests
Myoclonic epilepsy, familial infantile2 tests
Myoclonus with epilepsy with ragged red fibers1 test
Myofibrillar myopathy2 tests
Myofibrillar myopathy 13 tests
Myofibrillar myopathy, BAG3-related2 tests
Myofibrillar myopathy, ZASP-related3 tests
Myofibrillar myopathy, filamin C-related2 tests
Myoglobinuria, acute recurrent, autosomal recessive2 tests
Myokymia 11 test
Myopathy with postural muscle atrophy, X-linked1 test
Myopathy, centronuclear, 12 tests
Myopathy, distal, 14 tests
Myopathy, distal, 42 tests
Myopathy, distal, with anterior tibial onset3 tests
Myopathy, early-onset, with fatal cardiomyopathy5 tests
Myopathy, reducing body, X-linked, childhood-onset1 test
Myopathy, reducing body, X-linked, early-onset, severe1 test
Myopia 61 test
Myosclerosis, autosomal recessive7 tests
Myosin storage myopathy3 tests
Myotilinopathy3 tests
Myotonic dystrophy2 tests
N-terminal acetyltransferase deficiency1 test
NSDHL-Related Disorders3 tests
Nance-Horan syndrome4 tests
Nanophthalmos 22 tests
Nasopharyngeal carcinoma1 test
Navajo neurohepatopathy1 test
Naxos disease3 tests
Nemaline myopathy2 tests
Nemaline myopathy 14 tests
Nemaline myopathy 26 tests
Nemaline myopathy 34 tests
Nemaline myopathy 44 tests
Nemaline myopathy 54 tests
Nemaline myopathy 71 test
Neonatal adrenoleucodystrophy2 tests
Neonatal intrahepatic cholestasis caused by citrin deficiency2 tests
Neonatal severe hyperparathyroidism3 tests
Neoplasm of ovary1 test
Neoplasm of stomach4 tests
Nephroblastoma3 tests
Nephronophthisis 111 tests
Nephronophthisis 116 tests
Nephronophthisis 123 tests
Nephronophthisis 131 test
Nephronophthisis 143 tests
Nephronophthisis 151 test
Nephronophthisis 48 tests
Nephronophthisis 71 test
Nephronophthisis 91 test
Nephronophthisis-like nephropathy 11 test
Nephropathic cystinosis1 test
Nephrotic syndrome1 test
Netherton syndrome1 test
Neuroblastoma 23 tests
Neuroblastoma 32 tests
Neurocutaneous melanosis1 test
Neurodegeneration with brain iron accumulation2 tests
Neurodegeneration with brain iron accumulation 51 test
Neurofibromatosis, type 22 tests
Neuronal ceroid lipofuscinosis1 test
Neuropathy ataxia retinitis pigmentosa syndrome1 test
Neuropathy hereditary sensory and autonomic type 11 test
Neutrophil immunodeficiency syndrome2 tests
Newfoundland rod-cone dystrophy3 tests
Niemann-Pick disease type C15 tests
Niemann-Pick disease type C26 tests
Niemann-Pick disease, type A8 tests
Niemann-Pick disease, type B6 tests
Niemann-Pick disease, type C2 tests
Niemann-Pick disease, type C1, adult form2 tests
Niemann-pick disease, type c1, juvenile form2 tests
Non-ketotic hyperglycinemia1 test
Non-syndromic X-linked intellectual disability3 tests
Nonaka myopathy5 tests
Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive3 tests
Noonan syndrome3 tests
Noonan syndrome 18 tests
Noonan syndrome 34 tests
Noonan syndrome 45 tests
Noonan syndrome 55 tests
Noonan syndrome 64 tests
Noonan syndrome 75 tests
Noonan syndrome 81 test
Noonan syndrome with multiple lentigines2 tests
Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia1 test
Noonan-like syndrome with loose anagen hair3 tests
Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 12 tests
Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 22 tests
Nystagmus 6, congenital, X-linked2 tests
Obesity3 tests
Obesity, hyperphagia, and developmental delay1 test
Obsessive-compulsive disorder2 tests
Ocular albinism, type I2 tests
Ocular albinism, type II3 tests
Oculocutaneous albinism type 1B2 tests
Oculocutaneous albinism type 32 tests
Oculocutaneous albinism type 42 tests
Oculofaciocardiodental syndrome5 tests
Oculopharyngeal muscular dystrophy2 tests
Oguchi's disease3 tests
Ohdo syndrome, X-linked6 tests
Omodysplasia 12 tests
Opitz-Frias syndrome4 tests
Optic atrophy3 tests
Optic atrophy 72 tests
Optic atrophy and cataract, autosomal dominant5 tests
Optic nerve hypoplasia, bilateral4 tests
Oral-facial-digital syndrome7 tests
Ornithine aminotransferase deficiency2 tests
Ornithine carbamoyltransferase deficiency5 tests
Orofacial cleft 112 tests
Orofacial-digital syndrome IV4 tests
Osler hemorrhagic telangiectasia syndrome4 tests
Ossification of the posterior longitudinal ligament of the spine5 tests
Osteoarthritis of hip3 tests
Osteoarthritis with mild chondrodysplasia7 tests
Osteogenesis imperfecta type 102 tests
Osteogenesis imperfecta type 122 tests
Osteogenesis imperfecta type 52 tests
Osteogenesis imperfecta type 72 tests
Osteogenesis imperfecta type 82 tests
Osteogenesis imperfecta type 92 tests
Osteogenesis imperfecta type I5 tests
Osteogenesis imperfecta type III5 tests
Osteogenesis imperfecta with normal sclerae, dominant form5 tests
Osteogenesis imperfecta, recessive perinatal lethal5 tests
Osteogenesis imperfecta, type XI2 tests
Osteoglophonic dysplasia3 tests
Osteopetrosis autosomal dominant type 15 tests
Osteopetrosis autosomal dominant type 22 tests
Osteopetrosis autosomal recessive 12 tests
Osteopetrosis autosomal recessive 22 tests
Osteopetrosis autosomal recessive 42 tests
Osteopetrosis autosomal recessive 73 tests
Osteopetrosis with renal tubular acidosis1 test
Osteopetrosis, autosomal recessive 52 tests
Osteoporosis with pseudoglioma5 tests
Osteosarcoma2 tests
Oto-palato-digital syndrome, type I8 tests
Oto-palato-digital syndrome, type II8 tests
Otofaciocervical syndrome1 test
Otospondylomegaepiphyseal dysplasia8 tests
Ovarian dysgenesis 11 test
Ovarian dysgenesis 21 test
Ovarian dysgenesis 31 test
Ovarian hyperstimulation syndrome1 test
PTEN hamartoma tumor syndrome7 tests
PTEN hamartoma tumor syndrome with granular cell tumor3 tests
Pachydermoperiostosis syndrome2 tests
Paget disease of bone 2, early-onset3 tests
Pallister-Hall syndrome4 tests
Palmoplantar keratoderma, mutilating, with periorificial keratotic plaques, X-linked1 test
Pancreatic agenesis and congenital heart disease1 test
Pancreatic agenesis, congenital2 tests
Pancreatic cancer 21 test
Pancreatic cancer 31 test
Panhypopituitarism X-linked2 tests
Papillary thyroid carcinoma3 tests
Paraganglioma and gastric stromal sarcoma3 tests
Paragangliomas 13 tests
Paragangliomas 24 tests
Paragangliomas 34 tests
Paragangliomas 45 tests
Paramyotonia congenita of von Eulenburg