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MGZ Medical Genetics Center

General information

MGZ Medical Genetics Center

München
Bayern
Germany - 80335
http://www.mgz-muenchen.de/homepage.html
Organization ID: 255845

Personnel

View this laboratory in GTR

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 3103

Gene

GeneSubmissionsLast Updated
AAAS3Oct 6, 2022
AARS12Oct 6, 2022
AARS22Oct 6, 2022
ABCA11Oct 6, 2022
ABCA418Oct 6, 2022
ABCB112Oct 6, 2022
ABCC21Oct 6, 2022
ABCC63Oct 6, 2022
ABCC84Oct 6, 2022
ABCC91Oct 6, 2022
ABCD15Oct 6, 2022
ABHD14A-ACY11Oct 6, 2022
ABL11Oct 6, 2022
ACAD97Oct 6, 2022
ACADM7Oct 6, 2022
ACADS3Oct 6, 2022
ACADVL1Oct 6, 2022
ACAN2Oct 6, 2022
ACO23Oct 6, 2022
ACSL41Oct 6, 2022
ACTA12Oct 6, 2022
ACTA21Oct 6, 2022
ACTC11Oct 6, 2022
ACTG13Oct 6, 2022
ACTG21Oct 6, 2022
ACTL6B1Oct 6, 2022
ACTN21Oct 6, 2022
ACVR11Oct 6, 2022
ACVRL13Oct 6, 2022
ACY11Oct 6, 2022
ADAMTSL42Oct 6, 2022
ADAMTSL4-AS22Oct 6, 2022
ADAR1Oct 6, 2022
ADAT33Oct 6, 2022
ADCY52Oct 6, 2022
ADGRV11Oct 6, 2022
ADNP2Oct 6, 2022
ADSL2Oct 6, 2022
ADSS11Oct 6, 2022
AFF31Oct 6, 2022
AFG2A4Oct 6, 2022
AFG2B1Oct 6, 2022
AFG3L21Oct 6, 2022
AHDC12Oct 6, 2022
AKAP92Oct 6, 2022
ALDH7A12Oct 6, 2022
ALG82Oct 6, 2022
ALMS12Oct 6, 2022
ALPL5Oct 6, 2022
ALS21Oct 6, 2022
AMACR2Oct 6, 2022
ANK23Oct 6, 2022
ANK31Oct 6, 2022
ANKRD1111Oct 6, 2022
ANO31Oct 6, 2022
ANO514Oct 6, 2022
AP4B11Oct 6, 2022
AP4B1-AS11Oct 6, 2022
AP4E11Oct 6, 2022
APC17Oct 6, 2022
APOA52Oct 6, 2022
APOB3Oct 6, 2022
AR1Oct 6, 2022
ARF11Oct 6, 2022
ARHGEF102Oct 6, 2022
ARHGEF91Oct 6, 2022
ARID1A3Oct 6, 2022
ARID1B4Oct 6, 2022
ARID21Oct 6, 2022
ARL61Oct 6, 2022
ARSA2Oct 6, 2022
ARSB1Oct 6, 2022
ARX1Oct 6, 2022
ASAH11Oct 6, 2022
ASH1L2Oct 6, 2022
ASL1Oct 6, 2022
ASNS1Oct 6, 2022
ASPM2Oct 6, 2022
ASXL11Oct 6, 2022
ASXL35Oct 6, 2022
ATAD3A1Oct 6, 2022
ATL12Oct 6, 2022
ATM84Oct 6, 2022
ATP1A23Oct 6, 2022
ATP1A35Oct 6, 2022
ATP2A12Oct 6, 2022
ATP2A21Oct 6, 2022
ATP6V1A1Oct 6, 2022
ATP7A1Oct 6, 2022
ATP7B2Oct 6, 2022
ATP8B12Oct 6, 2022
ATRX3Oct 6, 2022
ATXN7L3-AS11Oct 6, 2022
AUTS21Oct 6, 2022
AVIL1Oct 6, 2022
AXIN22Oct 6, 2022
B3GALNT21Oct 6, 2022
B3GLCT1Oct 6, 2022
B4GAT11Oct 6, 2022
BAP13Oct 6, 2022
BARD119Jul 17, 2023
BBS101Oct 6, 2022
BCHE1Oct 6, 2022
BCL11A2Jul 17, 2023
BEST17Oct 6, 2022
BHLHA91Oct 6, 2022
BICC11Oct 6, 2022
BICD21Oct 6, 2022
BICRA2Oct 6, 2022
BLM1Oct 6, 2022
BMPR1A2Oct 6, 2022
BPTF4Oct 6, 2022
BRAF2Oct 6, 2022
BRAT11Oct 6, 2022
BRCA172Jun 11, 2024
BRCA2134Jun 11, 2024
BRIP119Oct 6, 2022
BRPF11Oct 6, 2022
BRWD31Oct 6, 2022
BSCL23Oct 6, 2022
BTD6Oct 6, 2022
BTK1Oct 6, 2022
C11orf6531Oct 6, 2022
C17orf1072Oct 6, 2022
C1QTNF3-AMACR2Oct 6, 2022
CACNA1A13Oct 6, 2022
CACNA1C3Oct 6, 2022
CACNA1C-AS11Oct 6, 2022
CACNA1F3Oct 6, 2022
CACNA1G1Oct 6, 2022
CACNA1S5Oct 6, 2022
CALM21Oct 6, 2022
CAMK2A1Oct 6, 2022
CAPN315Oct 6, 2022
CARD81Oct 6, 2022
CASD14Oct 6, 2022
CASK1Oct 6, 2022
CASR3Oct 6, 2022
CAV32Oct 6, 2022
CBL2Oct 6, 2022
CC2D2A1Oct 6, 2022
CCDST3Oct 6, 2022
CCM21Oct 6, 2022
CCND21Oct 6, 2022
CDC732Oct 6, 2022
CDH112Oct 6, 2022
CDH231Oct 6, 2022
CDK134Oct 6, 2022
CDK5RAP21Oct 6, 2022
CDKL54Oct 6, 2022
CDKN1C1Oct 6, 2022
CDKN2A4Oct 6, 2022
CENPF2Oct 6, 2022
CEP1522Oct 6, 2022
CEP2904Oct 6, 2022
CEP571Oct 6, 2022
CEP85L2Oct 6, 2022
CERKL1Oct 6, 2022
CFTR30Oct 6, 2022
CFTR-AS15Oct 6, 2022
CHAMP11Oct 6, 2022
CHD11Oct 6, 2022
CHD22Oct 6, 2022
CHD35Oct 6, 2022
CHD41Oct 6, 2022
CHD78Oct 6, 2022
CHD83Oct 6, 2022
CHEK233Oct 6, 2022
CHRNA21Oct 6, 2022
CHRND3Oct 6, 2022
CHRNE4Oct 6, 2022
CHST63Oct 6, 2022
CIB21Oct 6, 2022
CIC1Oct 6, 2022
CLCN122Oct 6, 2022
CLCN61Oct 6, 2022
CLN61Oct 6, 2022
CLTC2Oct 6, 2022
CNGA31Oct 6, 2022
CNNM21Oct 6, 2022
CNOT11Oct 6, 2022
CNOT32Oct 6, 2022
CNTNAP22Oct 6, 2022
COL11A13Oct 6, 2022
COL11A21Oct 6, 2022
COL12A13Oct 6, 2022
COL17A11Oct 6, 2022
COL18A15Oct 6, 2022
COL1A19Oct 6, 2022
COL1A210Oct 6, 2022
COL2A19Oct 6, 2022
COL3A17Oct 6, 2022
COL4A17Oct 6, 2022
COL4A22Oct 6, 2022
COL4A2-AS11Oct 6, 2022
COL4A36Oct 6, 2022
COL4A42Oct 6, 2022
COL4A57Oct 6, 2022
COL5A114Oct 6, 2022
COL5A22Oct 6, 2022
COL6A12Oct 6, 2022
COL6A26Oct 6, 2022
COL6A310Oct 6, 2022
COL7A11Oct 6, 2022
COLQ2Oct 6, 2022
COMP2Oct 6, 2022
COQ41Oct 6, 2022
CP1Oct 6, 2022
CPOX1Oct 6, 2022
CPS11Oct 6, 2022
CPT1C1Oct 6, 2022
CPT25Oct 6, 2022
CRB12Oct 6, 2022
CREBBP4Oct 6, 2022
CRIPT1Oct 6, 2022
CRPPA1Oct 6, 2022
CRX1Oct 6, 2022
CRYAA2Oct 6, 2022
CRYAB1Oct 6, 2022
CRYBA11Oct 6, 2022
CRYBB21Oct 6, 2022
CRYBB31Oct 6, 2022
CRYGC1Oct 6, 2022
CSF1R1Oct 6, 2022
CSGALNACT11Oct 6, 2022
CSNK2A12Oct 6, 2022
CSNK2B2Oct 6, 2022
CTNNB12Oct 6, 2022
CTRC2Oct 6, 2022
CUBN2Oct 6, 2022
CUL33Oct 6, 2022
CUL4B2Oct 6, 2022
CUX22Oct 6, 2022
CWF19L11Oct 6, 2022
CYCS1Oct 6, 2022
CYP17A12Oct 6, 2022
CYP21A21Oct 6, 2022
CYP27A11Oct 6, 2022
CYP2U12Oct 6, 2022
CYP7B11Oct 6, 2022
CZ1P-ASNS1Oct 6, 2022
DACT11Oct 6, 2022
DAG11Oct 6, 2022
DALRD31Oct 6, 2022
DCHS12Oct 6, 2022
DCX1Oct 6, 2022
DDHD22Oct 6, 2022
DDX3X2Oct 6, 2022
DEAF11Oct 6, 2022
DEPDC51Oct 6, 2022
DES3Oct 6, 2022
DGUOK1Oct 6, 2022
DHCR73Oct 6, 2022
DHFR1Oct 6, 2022
DHTKD12Oct 6, 2022
DHX371Oct 6, 2022
DICER14Oct 6, 2022
DIS3L21Oct 6, 2022
DISP11Oct 6, 2022
DLG42Oct 6, 2022
DLL12Oct 6, 2022
DMD14Oct 6, 2022
DNA21Oct 6, 2022
DNAAF12Oct 6, 2022
DNAH111Oct 6, 2022
DNAJB21Oct 6, 2022
DNAJC301Oct 6, 2022
DNM11Oct 6, 2022
DNM25Oct 6, 2022
DNMT11Oct 6, 2022
DNMT3A2Oct 6, 2022
DOK72Oct 6, 2022
DPY19L21Oct 6, 2022
DPYS1Oct 6, 2022
DSC21Oct 6, 2022
DSG21Oct 6, 2022
DSP3Oct 6, 2022
DSPP1Oct 6, 2022
DVL11Oct 6, 2022
DYNC1H16Oct 6, 2022
DYNC2H12Oct 6, 2022
DYRK1A5Oct 6, 2022
DYSF10Oct 6, 2022
EBF32Oct 6, 2022
EDA1Oct 6, 2022
EEF1A22Oct 6, 2022
EFHC12Oct 6, 2022
EFTUD21Oct 6, 2022
EHMT13Oct 6, 2022
EIF2B53Oct 6, 2022
EIF3F2Oct 6, 2022
ELANE1Oct 6, 2022
ELP11Oct 6, 2022
ELP41Oct 6, 2022
EMD1Oct 6, 2022
ENG1Oct 6, 2022
EP3003Oct 6, 2022
EPCAM1Oct 6, 2022
EPHA21Oct 6, 2022
ERCC21Oct 6, 2022
ERCC42Oct 6, 2022
ETFA1Oct 6, 2022
ETFB1Oct 6, 2022
ETFDH4Oct 6, 2022
ETHE12Oct 6, 2022
EXOSC32Oct 6, 2022
EXT12Oct 6, 2022
EXT22Oct 6, 2022
EYA13Oct 6, 2022
EYS9Oct 6, 2022
EZH21Oct 6, 2022
F71Oct 6, 2022
FA2H1Oct 6, 2022
FANCA1Oct 6, 2022
FARS21Oct 6, 2022
FBLN51Oct 6, 2022
FBN113Oct 6, 2022
FBN22Oct 6, 2022
FBXO111Oct 6, 2022
FBXO381Oct 6, 2022
FECH1Oct 6, 2022
FGA1Oct 6, 2022
FGD12Oct 6, 2022
FGD41Oct 6, 2022
FGF81Oct 6, 2022
FGFR11Oct 6, 2022
FGFR21Oct 6, 2022
FGFR35Oct 6, 2022
FH10Oct 6, 2022
FHL11Oct 6, 2022
FHOD31Oct 6, 2022
FIG45Oct 6, 2022
FKRP5Oct 6, 2022
FLCN8Oct 6, 2022
FLG3Oct 6, 2022
FLNB1Oct 6, 2022
FLNC2Oct 6, 2022
FLNC-AS11Oct 6, 2022
FLRT31Oct 6, 2022
FLVCR12Oct 6, 2022
FOXE32Oct 6, 2022
FOXF11Jan 19, 2024
FOXL22Oct 6, 2022
FOXP13Oct 6, 2022
FOXP21Oct 6, 2022
FOXRED12Oct 6, 2022
FRAS11Oct 6, 2022
FREM21Oct 6, 2022
FRMPD41Oct 6, 2022
FSHR2Oct 6, 2022
FSIP22Oct 6, 2022
FSIP2-AS11Oct 6, 2022
FTL1Oct 6, 2022
FUS2Oct 6, 2022
FYCO11Oct 6, 2022
G6PD4Oct 6, 2022
GAA11Oct 6, 2022
GABBR25Oct 6, 2022
GABRA21Oct 6, 2022
GABRB22Oct 6, 2022
GABRB31Oct 6, 2022
GABRG23Oct 6, 2022
GALC6Oct 6, 2022
GALNT22Oct 6, 2022
GALT2Oct 6, 2022
GAN1Oct 6, 2022
GARS11Oct 6, 2022
GBE13Oct 6, 2022
GCH11Oct 6, 2022
GCK9Oct 6, 2022
GDAP19Oct 6, 2022
GEMIN51Oct 6, 2022
GFAP1Oct 6, 2022
GFPT11Oct 6, 2022
GH-LCR17Oct 6, 2022
GHR1Oct 6, 2022
GJA81Oct 6, 2022
GJB19Oct 6, 2022
GJB29Oct 6, 2022
GJD2-DT1Oct 6, 2022
GLA3Oct 6, 2022
GLB15Oct 6, 2022
GLI11Oct 6, 2022
GLI32Oct 6, 2022
GLMN1Oct 6, 2022
GMPPB3Oct 6, 2022
GNAO12Oct 6, 2022
GNAS1Oct 6, 2022
GNB12Oct 6, 2022
GNB51Oct 6, 2022
GNE3Oct 6, 2022
GNPTAB2Oct 6, 2022
GNRHR2Oct 6, 2022
GOT21Oct 6, 2022
GP1BA1Oct 6, 2022
GPAA12Oct 6, 2022
GPC31Oct 6, 2022
GPHN3Oct 6, 2022
GPIHBP11Oct 6, 2022
GPR1431Oct 6, 2022
GRHPR1Oct 6, 2022
GRIA31Oct 6, 2022
GRIN11Oct 6, 2022
GRIN2A4Oct 6, 2022
GRIN2B3Oct 6, 2022
GRIN2D2Oct 6, 2022
GRM61Oct 6, 2022
GRN2Oct 6, 2022
GUCA1A1Oct 6, 2022
GUCA1ANB-GUCA1A1Oct 6, 2022
GYG12Oct 6, 2022
HADHB1Oct 6, 2022
HARS11Oct 6, 2022
HBA-LCR1Oct 6, 2022
HBB14Oct 6, 2022
HCN11Oct 6, 2022
HCN41Oct 6, 2022
HERC22Oct 6, 2022
HESX11Oct 6, 2022
HEXA6Oct 6, 2022
HEXB1Oct 6, 2022
HFE1Oct 6, 2022
HGSNAT2Oct 6, 2022
HINT11Oct 6, 2022
HIVEP21Oct 6, 2022
HJV1Oct 6, 2022
HK12Oct 6, 2022
HMBS1Oct 6, 2022
HNF1A3Oct 6, 2022
HNF1B1Oct 6, 2022
HNF4A2Oct 6, 2022
HNRNPH21Oct 6, 2022
HNRNPK1Oct 6, 2022
HNRNPK-AS11Oct 6, 2022
HNRNPUL2-BSCL23Oct 6, 2022
HOXB131Oct 6, 2022
HRAS1Oct 6, 2022
HSALR11Oct 6, 2022
HSD3B21Oct 6, 2022
HSF41Oct 6, 2022
HSPB13Oct 6, 2022
HSPB81Oct 6, 2022
HTRA12Oct 6, 2022
HUWE13Oct 6, 2022
IDS5Oct 6, 2022
IDUA2Oct 6, 2022
IFT1402Oct 6, 2022
IGF1R1Oct 6, 2022
IGF21Oct 6, 2022
IGHMBP23Oct 6, 2022
IGSF11Oct 6, 2022
IL36RN1Oct 6, 2022
IMPG11Oct 6, 2022
IMPG23Oct 6, 2022
INF22Oct 6, 2022
INPPL11Oct 6, 2022
INS2Oct 6, 2022
INS-IGF22Oct 6, 2022
INSR1Oct 6, 2022
IQSEC22Oct 6, 2022
IRAK1BP12Oct 6, 2022
IRF2BPL1Oct 6, 2022
ITGA2B1Oct 6, 2022
ITGB42Oct 6, 2022
ITGB61Oct 6, 2022
ITPR13Oct 6, 2022
JAG13Oct 6, 2022
JUP2Oct 6, 2022
KAT6A3Oct 6, 2022
KBTBD131Oct 6, 2022
KCNA12Oct 6, 2022
KCNA23Oct 6, 2022
KCNB13Oct 6, 2022
KCNC31Oct 6, 2022
KCNH22Oct 6, 2022
KCNJ21Oct 6, 2022
KCNK31Oct 6, 2022
KCNN41Oct 6, 2022
KCNQ111Oct 6, 2022
KCNQ1-AS11Oct 6, 2022
KCNQ210Oct 6, 2022
KCNQ41Oct 6, 2022
KCNT11Oct 6, 2022
KDM5C3Oct 6, 2022
KDM6A1Oct 6, 2022
KDM6B2Oct 6, 2022
KIAA05861Oct 6, 2022
KIAA15491Oct 6, 2022
KIDINS2201Oct 6, 2022
KIF113Oct 6, 2022
KIF1A4Oct 6, 2022
KIF21A4Oct 6, 2022
KIF5A6Oct 6, 2022
KIT1Oct 6, 2022
KLF9-DT1Oct 6, 2022
KLHL402Oct 6, 2022
KMT2A6Oct 6, 2022
KMT2B2Oct 6, 2022
KMT2C6Oct 6, 2022
KMT2D7Oct 6, 2022
KMT2E3Oct 6, 2022
KMT5B1Oct 6, 2022
KRIT13Oct 6, 2022
KRT171Oct 6, 2022
L1CAM1Oct 6, 2022
L2HGDH2Oct 6, 2022
LAMA14Oct 6, 2022
LAMA27Oct 6, 2022
LAMA31Oct 6, 2022
LARS22Oct 6, 2022
LBR2Oct 6, 2022
LDLR22Oct 6, 2022
LEPR1Oct 6, 2022
LGI11Oct 6, 2022
LINC013892Oct 6, 2022
LINS11Oct 6, 2022
LITAF1Oct 6, 2022
LMNA7Oct 6, 2022
LMX1B1Oct 6, 2022
LOC1005062351Oct 6, 2022
LOC1005074431Oct 6, 2022
LOC1014482026Oct 6, 2022
LOC1019283351Oct 6, 2022
LOC10272405813Oct 6, 2022
LOC1053698891Oct 6, 2022
LOC1060501024Oct 6, 2022
LOC10609906213Oct 6, 2022
LOC1067808001Oct 6, 2022
LOC1067808031Oct 6, 2022
LOC10713351014Oct 6, 2022
LOC1073033401Oct 6, 2022
LOC1082811772Oct 6, 2022
LOC1096106311Oct 6, 2022
LOC1100063192Oct 6, 2022
LOC1101212691Oct 6, 2022
LOC1108063061Oct 6, 2022
LOC1116744631Oct 6, 2022
LOC1116744724Oct 6, 2022
LOC1116744752Oct 6, 2022
LOC1138395161Oct 6, 2022
LOC1216278321Oct 6, 2022
LOC1251774891Oct 6, 2022
LOC1268057941Oct 6, 2022
LOC1268060391Oct 6, 2022
LOC1268062531Oct 6, 2022
LOC1268064461Oct 6, 2022
LOC1268066592Oct 6, 2022
LOC1268067142Oct 6, 2022
LOC1268068071Oct 6, 2022
LOC1268069131Oct 6, 2022
LOC1268069511Oct 6, 2022
LOC1268071371Oct 6, 2022
LOC1268611321Oct 6, 2022
LOC1268613391Oct 6, 2022
LOC1268614431Oct 6, 2022
LOC1268616151Oct 6, 2022
LOC1268618972Oct 6, 2022
LOC1268618983Oct 6, 2022
LOC1268622644Oct 6, 2022
LOC1268624791Oct 6, 2022
LOC12686257113Feb 14, 2024
LOC1268628661Oct 6, 2022
LOC1268629872Oct 6, 2022
LOC1268632533Oct 6, 2022
LOC1293911061Oct 6, 2022
LOC1299292001Oct 6, 2022
LOC1299312991Oct 6, 2022
LOC1299343331Oct 6, 2022
LOC1299351821Oct 6, 2022
LOC1299355941Oct 6, 2022
LOC1299928131Oct 6, 2022
LOC1299982931Oct 6, 2022
LOC1299986031Oct 6, 2022
LOC1300078721Oct 6, 2022
LOC1300083561Oct 6, 2022
LOC1300089871Oct 6, 2022
LOC1300092661Oct 6, 2022
LOC1300576831Oct 6, 2022
LOC1300591561Oct 6, 2022
LOC1300593941Oct 6, 2022
LOC1300613701Oct 6, 2022
LOC1300620841Oct 6, 2022
LOC1300628991Oct 6, 2022
LOC1300644671Oct 6, 2022
LOC1300670161Oct 6, 2022
LOXHD13Oct 6, 2022
LRP51Oct 6, 2022
LRRC561Oct 6, 2022
LRSAM13Oct 6, 2022
LRTOMT1Oct 6, 2022
LZTR114Oct 6, 2022
MACF11Oct 6, 2022
MACROD21Oct 6, 2022
MADD1Oct 6, 2022
MAF2Oct 6, 2022
MAGEL22Oct 6, 2022
MAN2B13Oct 6, 2022
MANBA1Oct 6, 2022
MAP1B2Oct 6, 2022
MAP2K11Oct 6, 2022
MAPK8IP31Oct 6, 2022
MBD52Oct 6, 2022
MC4R4Oct 6, 2022
MCM81Oct 6, 2022
MCM91Oct 6, 2022
MEA11Oct 6, 2022
MECP26Jul 17, 2023
MED12L2Oct 6, 2022
MED13L3Oct 6, 2022
MEFV13Oct 6, 2022
MEGF101Oct 6, 2022
MEGF81Oct 6, 2022
MEIS21Oct 6, 2022
MEN17Oct 6, 2022
MERTK1Oct 6, 2022
MET1Oct 6, 2022
MFAP51Oct 6, 2022
MFF-DT6Oct 6, 2022
MFN23Oct 6, 2022
MFSD82Oct 6, 2022
MHRT2Oct 6, 2022
MICU13Oct 6, 2022
MID21Oct 6, 2022
MKKS1Oct 6, 2022
MLH115Oct 6, 2022
MMAB2Oct 6, 2022
MMACHC3Oct 6, 2022
MME3Oct 6, 2022
MMUT2Oct 6, 2022
MN12Oct 6, 2022
MNS12Oct 6, 2022
MOCS21Oct 6, 2022
MORC21Oct 6, 2022
MPDZ2Oct 6, 2022
MPV173Oct 6, 2022
MPZ6Oct 6, 2022
MPZL21Oct 6, 2022
MSH217Oct 6, 2022
MSH34Oct 6, 2022
MSH624Oct 6, 2022
MSRB32Oct 6, 2022
MT-ATP63Oct 6, 2022
MT-ATP81Oct 6, 2022
MT-CO11Oct 6, 2022
MT-CO22Oct 6, 2022
MT-CO33Oct 6, 2022
MT-ND12Oct 6, 2022
MT-ND21Oct 6, 2022
MT-ND31Oct 6, 2022
MT-ND43Oct 6, 2022
MT-ND4L1Oct 6, 2022
MT-ND55Oct 6, 2022
MT-ND61Oct 6, 2022
MT-TA1Oct 6, 2022
MT-TC1Oct 6, 2022
MT-TD1Oct 6, 2022
MT-TE1Dec 9, 2019
MT-TG1Oct 6, 2022
MT-TH1Oct 6, 2022
MT-TI1Oct 6, 2022
MT-TK3Oct 6, 2022
MT-TL12Oct 6, 2022
MT-TM1Oct 6, 2022
MT-TN1Oct 6, 2022
MT-TQ1Oct 6, 2022
MT-TR1Oct 6, 2022
MT-TS12Oct 6, 2022
MT-TS21Oct 6, 2022
MT-TW1Oct 6, 2022
MT-TY1Oct 6, 2022
MTHFR2Oct 6, 2022
MTM14Oct 6, 2022
MUTYH14Oct 6, 2022
MVK1Oct 6, 2022
MVP-DT7Oct 6, 2022
MYBPC39Oct 6, 2022
MYCN2Oct 6, 2022
MYCNOS2Oct 6, 2022
MYH117Oct 6, 2022
MYH141Oct 6, 2022
MYH21Oct 6, 2022
MYH63Oct 6, 2022
MYH712Oct 6, 2022
MYH92Oct 6, 2022
MYHAS1Oct 6, 2022
MYL22Oct 6, 2022
MYLK2Oct 6, 2022
MYO5B2Oct 6, 2022
MYO62Oct 6, 2022
MYO7A2Oct 6, 2022
MYORG2Oct 6, 2022
MYOT2Oct 6, 2022
MYPN2Oct 6, 2022
MYT1L3Oct 6, 2022
NAA151Oct 6, 2022
NBEA1Oct 6, 2022
NCAPH23Oct 6, 2022
NDE13Oct 6, 2022
NDNF1Oct 6, 2022
NDST11Oct 6, 2022
NDUFA91Oct 6, 2022
NDUFS22Oct 6, 2022
NDUFS61Oct 6, 2022
NDUFS81Oct 6, 2022
NEB7Oct 6, 2022
NEFL4Oct 6, 2022
NEK11Oct 6, 2022
NEXMIF1Oct 6, 2022
NF158Jul 17, 2023
NF23Oct 6, 2022
NFIA1Oct 6, 2022
NFIB2Oct 6, 2022
NFIX1Oct 6, 2022
NFKB21Oct 6, 2022
NHS2Oct 6, 2022
NIPBL3Oct 6, 2022
NKIRAS11Oct 6, 2022
NKX2-51Oct 6, 2022
NLGN4X1Oct 6, 2022
NLRP122Oct 6, 2022
NLRP32Oct 6, 2022
NOBOX1Oct 6, 2022
NOTCH12Oct 6, 2022
NOTCH23Oct 6, 2022
NOTCH322Oct 6, 2022
NPHP11Oct 6, 2022
NPRL32Oct 6, 2022
NR0B11Oct 6, 2022
NR3C21Oct 6, 2022
NR5A11Oct 6, 2022
NSD110Oct 6, 2022
NSD22Oct 6, 2022
NT5C21Oct 6, 2022
NTHL15Oct 6, 2022
NTRK11Oct 6, 2022
NUS14Oct 6, 2022
NYX2Oct 6, 2022
OCA29Oct 6, 2022
OFD11Oct 6, 2022
OGT1Oct 6, 2022
OPA113Oct 6, 2022
OPA31Oct 6, 2022
OPHN11Oct 6, 2022
ORAI11Oct 6, 2022
OTC3Oct 6, 2022
OTOG1Oct 6, 2022
OTOGL2Oct 6, 2022
OXTR1Oct 6, 2022
P2RY121Oct 6, 2022
PACS21Oct 6, 2022
PAH5Oct 6, 2022
PAK11Oct 6, 2022
PALB231Jul 17, 2023
PAX21Oct 6, 2022
PAX61Oct 6, 2022
PAX81Oct 6, 2022
PAX8-AS11Oct 6, 2022
PCDH152Oct 6, 2022
PCDH192Oct 6, 2022
PDE6A2Oct 6, 2022
PDE6C2Oct 6, 2022
PDHA12Oct 6, 2022
PDHX1Oct 6, 2022
PDK31Oct 6, 2022
PEX22Oct 6, 2022
PGK11Oct 6, 2022
PHEX1Oct 6, 2022
PHF32Oct 6, 2022
PHF61Oct 6, 2022
PHIP4Oct 6, 2022
PHKA12Oct 6, 2022
PHKA21Oct 6, 2022
PHKB1Oct 6, 2022
PIEZO12Oct 6, 2022
PIEZO22Oct 6, 2022
PIGN1Oct 6, 2022
PIGO2Oct 6, 2022
PIGT2Oct 6, 2022
PIK3CA2Oct 6, 2022
PIK3R21Oct 6, 2022
PITX21Oct 6, 2022
PKD116Oct 6, 2022
PKD1-AS11Oct 6, 2022
PKD28Oct 6, 2022
PKD2L2-DT2Oct 6, 2022
PKHD17Oct 6, 2022
PKP23Oct 6, 2022
PLA2G62Oct 6, 2022
PLEC2Oct 6, 2022
PLEKHG51Oct 6, 2022
PLN1Oct 6, 2022
PLP11Oct 6, 2022
PLXND11Oct 6, 2022
PMP21Oct 6, 2022
PMP221Oct 6, 2022
PMS218Oct 6, 2022
PNKD1Oct 6, 2022
PNPLA21Oct 6, 2022
POC1B2Oct 6, 2022
POC1B-GALNT41Oct 6, 2022
POGZ3Oct 6, 2022
POLA12Oct 6, 2022
POLD18Oct 6, 2022
POLE17Oct 6, 2022
POLG13Oct 6, 2022
POLGARF13Oct 6, 2022
POLR1C2Oct 6, 2022
POLR2A1Oct 6, 2022
POLR2F1Oct 6, 2022
POLR3H1Oct 6, 2022
POMGNT11Oct 6, 2022
POMT15Oct 6, 2022
POMT22Oct 6, 2022
POT11Oct 6, 2022
POU3F41Oct 6, 2022
PPM1D2Oct 6, 2022
PPP2CA1Oct 6, 2022
PPP2R5D1Oct 6, 2022
PPP3CA1Oct 6, 2022
PRDM161Oct 6, 2022
PREPL1Oct 6, 2022
PRKAG21Oct 6, 2022
PRKCG1Oct 6, 2022
PRKN1Oct 6, 2022
PROC2Oct 6, 2022
PRODH2Oct 6, 2022
PROKR22Oct 6, 2022
PROM12Oct 6, 2022
PROS11Oct 6, 2022
PRPH25Oct 6, 2022
PRRT27Oct 6, 2022
PRX1Oct 6, 2022
PSEN14Oct 6, 2022
PSTPIP11Oct 6, 2022
PTCH17Oct 6, 2022
PTEN10Oct 6, 2022
PTH1R1Oct 6, 2022
PTPN1111Jul 17, 2023
PUF601Oct 6, 2022
PUM11Oct 6, 2022
PURA4Oct 6, 2022
PYGM3Oct 6, 2022
QRICH11Oct 6, 2022
RAB3GAP11Oct 6, 2022
RAB9B1Oct 6, 2022
RAD51C6Oct 6, 2022
RAD51D14Oct 6, 2022
RAD51L3-RFFL14Oct 6, 2022
RAG11Oct 6, 2022
RAI11Oct 6, 2022
RALGAPA11Oct 6, 2022
RAPSN1Oct 6, 2022
RARS21Oct 6, 2022
RDH123Oct 6, 2022
REEP12Oct 6, 2022
RERE2Oct 6, 2022
RET10Oct 6, 2022
RHO1Oct 6, 2022
RHOBTB21Oct 6, 2022
RIF12Oct 6, 2022
RIT12Oct 6, 2022
RLIM2Oct 6, 2022
RNASEH2B2Oct 6, 2022
RORA2Oct 6, 2022
RORA-AS12Oct 6, 2022
RORB1Oct 6, 2022
RP13Oct 6, 2022
RP1L12Oct 6, 2022
RPE653Oct 6, 2022
RPGR4Oct 6, 2022
RPGRIP11Oct 6, 2022
RPL151Oct 6, 2022
RPL36A-HNRNPH23Oct 6, 2022
RRM2B1Oct 6, 2022
RS11Oct 6, 2022
RUNX11Oct 6, 2022
RYR134Oct 6, 2022
RYR210Oct 6, 2022
SACS6Oct 6, 2022
SATB21Oct 6, 2022
SCAMP43Oct 6, 2022
SCN10A7Oct 6, 2022
SCN11A1Oct 6, 2022
SCN1A21Oct 6, 2022
SCN1A-AS11Oct 6, 2022
SCN2A11Oct 6, 2022
SCN4A20Oct 6, 2022
SCN5A6Oct 6, 2022
SCN8A2Oct 6, 2022
SCN9A1Oct 6, 2022
SCO23Oct 6, 2022
SDHA2Oct 6, 2022
SDHB7Oct 6, 2022
SDHC1Oct 6, 2022
SDHD6Oct 6, 2022
SEC23B3Oct 6, 2022
SELENON4Oct 6, 2022
SEMA6B2Oct 6, 2022
SERPINA12Oct 6, 2022
SERPINC11Oct 6, 2022
SERPINF11Oct 6, 2022
SETD1A1Oct 6, 2022
SETD1B3Oct 6, 2022
SETD23Oct 6, 2022
SETD55Oct 6, 2022
SETX8Oct 6, 2022
SGCB1Oct 6, 2022
SGCE4Oct 6, 2022
SGCG2Oct 6, 2022
SGSH1Oct 6, 2022
SH3TC24Oct 6, 2022
SHANK312Oct 6, 2022
SHH1Oct 6, 2022
SHOC21Oct 6, 2022
SHOX1Oct 6, 2022
SHROOM41Oct 6, 2022
SIL11Oct 6, 2022
SIN3A3Oct 6, 2022
SIX11Oct 6, 2022
SKI4Oct 6, 2022
SLC12A21Oct 6, 2022
SLC12A312Oct 6, 2022
SLC12A51Oct 6, 2022
SLC16A22Oct 6, 2022
SLC19A11Oct 6, 2022
SLC1A31Oct 6, 2022
SLC20A21Oct 6, 2022
SLC25A11Oct 6, 2022
SLC25A321Oct 6, 2022
SLC26A111Oct 6, 2022
SLC26A43Oct 6, 2022
SLC26A4-AS11Oct 6, 2022
SLC26A81Oct 6, 2022
SLC2A19Oct 6, 2022
SLC2A1-DT1Oct 6, 2022
SLC34A33Oct 6, 2022
SLC38A81Oct 6, 2022
SLC3A13Oct 6, 2022
SLC52A33Oct 6, 2022
SLC6A13Oct 6, 2022
SLC6A1-AS13Oct 6, 2022
SLC6A172Oct 6, 2022
SLC6A81Oct 6, 2022
SMAD21Oct 6, 2022
SMAD33Oct 6, 2022
SMAD44Oct 6, 2022
SMAD91Oct 6, 2022
SMARCA41Oct 6, 2022
SMARCB12Oct 6, 2022
SMARCD11Oct 6, 2022
SMC1A1Oct 6, 2022
SMCHD15Oct 6, 2022
SMN12Oct 6, 2022
SMPD12Oct 6, 2022
SNHG142Oct 6, 2022
SNRNP2001Oct 6, 2022
SOD16Oct 6, 2022
SOD1-DT1Oct 6, 2022
SON1Oct 6, 2022
SORD6Oct 6, 2022
SOS21Oct 6, 2022
SOX101Oct 6, 2022
SOX22Oct 6, 2022
SOX2-OT2Oct 6, 2022
SOX52Oct 6, 2022
SOX91Oct 6, 2022
SPAST13Oct 6, 2022
SPEN2Oct 6, 2022
SPG112Oct 6, 2022
SPG713Jul 17, 2023
SPINK11Oct 6, 2022
SPOP1Oct 6, 2022
SPRED13Oct 6, 2022
SPTA11Oct 6, 2022
SPTAN11Oct 6, 2022
SPTB2Oct 6, 2022
SPTBN11Oct 6, 2022
SPTBN25Oct 6, 2022
SPTBN42Oct 6, 2022
SPTLC24Oct 6, 2022
SQSTM11Oct 6, 2022
SRD5A21Oct 6, 2022
SSUH21Oct 6, 2022
STAG12Oct 6, 2022
STAG31Oct 6, 2022
STAMBP1Oct 6, 2022
STK1115Oct 6, 2022
STX1B1Oct 6, 2022
STXBP14Oct 6, 2022
STXBP21Oct 6, 2022
SUFU1Oct 6, 2022
SUOX1Oct 6, 2022
SURF12Oct 6, 2022
SYN21Oct 6, 2022
SYNE11Oct 6, 2022
SYNE21Oct 6, 2022
SYNGAP13Oct 6, 2022
SYNGAP1-AS12Oct 6, 2022
SYNJ11Oct 6, 2022
SYP1Oct 6, 2022
SYT11Oct 6, 2022
TANC24Oct 6, 2022
TANGO22Oct 6, 2022
TAOK12Oct 6, 2022
TARDBP2Oct 6, 2022
TBC1D241Oct 6, 2022
TBCE2Oct 6, 2022
TBCK1Oct 6, 2022
TBK13Oct 6, 2022
TBX11Oct 6, 2022
TBX31Oct 6, 2022
TBX51Oct 6, 2022
TBXAS11Oct 6, 2022
TCAP1Oct 6, 2022
TCF42Oct 6, 2022
TCTN31Oct 6, 2022
TERC1Oct 6, 2022
TERT1Oct 6, 2022
TET32Oct 6, 2022
TEX141Oct 6, 2022
TEX92Oct 6, 2022
TGFB23Oct 6, 2022
TGFBI1Oct 6, 2022
TGFBR14Oct 6, 2022
TGFBR22Oct 6, 2022
TH1Oct 6, 2022
THAP11Oct 6, 2022
THOC21Oct 6, 2022
THRA1Oct 6, 2022
TIMMDC12Oct 6, 2022
TK21Oct 6, 2022
TLK21Oct 6, 2022
TMEM1272Oct 6, 2022
TMLHE1Oct 6, 2022
TMPRSS31Oct 6, 2022
TMPRSS62Oct 6, 2022
TNFRSF1A3Oct 6, 2022
TNNI21Oct 6, 2022
TNNI32Oct 6, 2022
TNNT31Oct 6, 2022
TNPO21Oct 6, 2022
TNRC6B1Oct 6, 2022
TNXB13Oct 6, 2022
TOMT1Oct 6, 2022
TOPORS1Oct 6, 2022
TOR1A1Oct 6, 2022
TP5311Oct 6, 2022
TP633Oct 6, 2022
TP731Oct 6, 2022
TPM11Oct 6, 2022
TPM21Oct 6, 2022
TPM32Oct 6, 2022
TPP11Oct 6, 2022
TRAPPC111Oct 6, 2022
TRAPPC91Oct 6, 2022
TRIM711Oct 6, 2022
TRIO3Oct 6, 2022
TRIP124Oct 6, 2022
TRMT10A2Oct 6, 2022
TRMU1Oct 6, 2022
TRPA11Oct 6, 2022
TRPM31Oct 6, 2022
TRPM61Oct 6, 2022
TRPV41Oct 6, 2022
TRRAP4Oct 6, 2022
TSC110Oct 6, 2022
TSC211Oct 6, 2022
TSEN542Oct 6, 2022
TSFM1Oct 6, 2022
TSPAN11Oct 6, 2022
TSPEAR2Oct 6, 2022
TSR22Oct 6, 2022
TTBK21Oct 6, 2022
TTC36-AS11Oct 6, 2022
TTN9Oct 6, 2022
TTN-AS17Oct 6, 2022
TTR3Oct 6, 2022
TUBA1A5Oct 6, 2022
TUBB2Oct 6, 2022
TUBB12Oct 6, 2022
TUBB2B2Oct 6, 2022
TUBB4A1Oct 6, 2022
TUBGCP61Oct 6, 2022
TUFM1Oct 6, 2022
TULP11Oct 6, 2022
TWNK1Oct 6, 2022
TYMP3Oct 6, 2022
TYR13Oct 6, 2022
UBA13Oct 6, 2022
UBE3A2Oct 6, 2022
UBR11Oct 6, 2022
UBTF1Oct 6, 2022
UGT1A4Oct 6, 2022
UGT1A14Oct 6, 2022
UGT1A104Oct 6, 2022
UGT1A34Oct 6, 2022
UGT1A44Oct 6, 2022
UGT1A54Oct 6, 2022
UGT1A64Oct 6, 2022
UGT1A74Oct 6, 2022
UGT1A84Oct 6, 2022
UGT1A94Oct 6, 2022
UMOD3Oct 6, 2022
UNC13A1Oct 6, 2022
USH2A7Oct 6, 2022
USH2A-AS11Oct 6, 2022
USP71Oct 6, 2022
USP9X1Oct 6, 2022
VARS11Oct 6, 2022
VARS23Oct 6, 2022
VHL2Oct 6, 2022
VMA211Oct 6, 2022
VPS13A1Oct 6, 2022
VPS4A1Oct 6, 2022
WAC2Oct 6, 2022
WARS11Oct 6, 2022
WARS23Oct 6, 2022
WARS2-AS11Oct 6, 2022
WAS1Oct 6, 2022
WASF11Oct 6, 2022
WDFY32Oct 6, 2022
WDFY3-AS11Oct 6, 2022
WDR191Oct 6, 2022
WDR371Oct 6, 2022
WDR452Oct 6, 2022
WDR621Oct 6, 2022
WDR732Oct 6, 2022
WFS19Oct 6, 2022
WNT10A6Oct 6, 2022
WT11Oct 6, 2022
XPA1Oct 6, 2022
YWHAG1Oct 6, 2022
ZBTB181Oct 6, 2022
ZBTB201Oct 6, 2022
ZC4H21Oct 6, 2022
ZEB21Oct 6, 2022
ZFYVE271Oct 6, 2022
ZMIZ11Oct 6, 2022
ZMPSTE241Oct 6, 2022
ZMYM22Oct 6, 2022
ZMYND112Oct 6, 2022
ZNF2921Oct 6, 2022
ZNF4541Oct 6, 2022
ZNF4622Oct 6, 2022
ZNF4692Oct 6, 2022
ZP11Oct 6, 2022

Condition

NameSubmissionsLast Updated
2-aminoadipic 2-oxoadipic aciduria2Oct 6, 2022
3 beta-Hydroxysteroid dehydrogenase deficiency1Oct 6, 2022
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency1Oct 6, 2022
46,XX ovarian dysgenesis-short stature syndrome1Oct 6, 2022
46,XY sex reversal 111Oct 6, 2022
4p partial monosomy syndrome1Oct 6, 2022
8q24.3 microdeletion syndrome1Oct 6, 2022
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder2Oct 6, 2022
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome2Oct 6, 2022
ALG8 congenital disorder of glycosylation2Oct 6, 2022
Aarskog syndrome2Oct 6, 2022
Abnormal CSF lactate concentration1Dec 9, 2019
Abnormal basal ganglia MRI signal intensity2Dec 9, 2019
Abnormality of eye movement1Dec 9, 2019
Absence seizure1Oct 6, 2022
Achondroplasia2Oct 6, 2022
Achromatopsia 21Oct 6, 2022
Acrocephalosyndactyly type I1Oct 6, 2022
Acrodermatitis continua suppurativa of Hallopeau1Oct 6, 2022
Actin accumulation myopathy1Oct 6, 2022
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins1Oct 6, 2022
Acute intermittent porphyria1Oct 6, 2022
Acyl-CoA dehydrogenase 9 deficiency7Oct 6, 2022
Adenylosuccinate lyase deficiency2Oct 6, 2022
Adrenoleukodystrophy4Oct 6, 2022
Adult hypophosphatasia2Oct 6, 2022
Aicardi-Goutieres syndrome 22Oct 6, 2022
Aicardi-Goutieres syndrome 61Oct 6, 2022
Alagille syndrome due to a JAG1 point mutation3Oct 6, 2022
Alagille syndrome due to a NOTCH2 point mutation2Oct 6, 2022
Alexander disease1Oct 6, 2022
Allan-Herndon-Dudley syndrome2Oct 6, 2022
Alpha-1-antitrypsin deficiency2Oct 6, 2022
Alpha-methylacyl-CoA racemase deficiency2Oct 6, 2022
Alstrom syndrome2Oct 6, 2022
Alternating hemiplegia of childhood 22Oct 6, 2022
Alveolar capillary dysplasia with pulmonary venous misalignment1Jan 19, 2024
Alzheimer disease 32Oct 6, 2022
Amelogenesis imperfecta type 1H1Oct 6, 2022
Aminoacylase 1 deficiency1Oct 6, 2022
Amyotrophic lateral sclerosis type 17Oct 6, 2022
Amyotrophic lateral sclerosis type 102Oct 6, 2022
Amyotrophic lateral sclerosis type 114Oct 6, 2022
Amyotrophic lateral sclerosis type 44Oct 6, 2022
Amyotrophic lateral sclerosis type 51Oct 6, 2022
Amyotrophic lateral sclerosis type 61Oct 6, 2022
Androgen resistance syndrome1Oct 6, 2022
Anemia, nonspherocytic hemolytic, due to G6PD deficiency4Oct 6, 2022
Aneurysm-osteoarthritis syndrome3Oct 6, 2022
Angelman syndrome2Oct 6, 2022
Aniridia 11Oct 6, 2022
Anophthalmia/microphthalmia-esophageal atresia syndrome2Oct 6, 2022
Aortic aneurysm, familial thoracic 11, susceptibility to1Oct 6, 2022
Aortic aneurysm, familial thoracic 46Oct 6, 2022
Aortic aneurysm, familial thoracic 61Oct 6, 2022
Aortic aneurysm, familial thoracic 72Oct 6, 2022
Aortic aneurysm, familial thoracic 91Oct 6, 2022
Aortic valve disease 12Oct 6, 2022
Argininosuccinate lyase deficiency1Oct 6, 2022
Arrhythmogenic right ventricular dysplasia 101Oct 6, 2022
Arrhythmogenic right ventricular dysplasia 111Oct 6, 2022
Arrhythmogenic right ventricular dysplasia 122Oct 6, 2022
Arrhythmogenic right ventricular dysplasia 29Oct 6, 2022
Arrhythmogenic right ventricular dysplasia 83Oct 6, 2022
Arrhythmogenic right ventricular dysplasia 93Oct 6, 2022
Arterial calcification, generalized, of infancy, 21Oct 6, 2022
Arthrogryposis, distal, type 2B21Oct 6, 2022
Arthrogryposis, distal, with impaired proprioception and touch1Oct 6, 2022
Asperger syndrome, X-linked, susceptibility to, 21Oct 6, 2022
Asphyxiating thoracic dystrophy 32Oct 6, 2022
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome4Oct 6, 2022
Ataxia-telangiectasia syndrome6Oct 6, 2022
Au-Kline syndrome1Oct 6, 2022
Autism spectrum disorder due to AUTS2 deficiency1Oct 6, 2022
Autosomal dominant Charcot-Marie-Tooth disease type 2W1Oct 6, 2022
Autosomal dominant Robinow syndrome 21Oct 6, 2022
Autosomal dominant centronuclear myopathy3Oct 6, 2022
Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures1Oct 6, 2022
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures1Oct 6, 2022
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome2Oct 6, 2022
Autosomal dominant hypocalcemia 11Oct 6, 2022
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome3Oct 6, 2022
Autosomal dominant nocturnal frontal lobe epilepsy 41Oct 6, 2022
Autosomal dominant nocturnal frontal lobe epilepsy 51Oct 6, 2022
Autosomal dominant nonsyndromic hearing loss 222Oct 6, 2022
Autosomal dominant nonsyndromic hearing loss 2A1Oct 6, 2022
Autosomal dominant nonsyndromic hearing loss 61Oct 6, 2022
Autosomal dominant optic atrophy classic form13Oct 6, 2022
Autosomal dominant pseudohypoaldosteronism type 11Oct 6, 2022
Autosomal dominant slowed nerve conduction velocity2Oct 6, 2022
Autosomal dominant vitreoretinochoroidopathy1Oct 6, 2022
Autosomal recessive Alport syndrome3Oct 6, 2022
Autosomal recessive DOPA responsive dystonia1Oct 6, 2022
Autosomal recessive Kenny-Caffey syndrome2Oct 6, 2022
Autosomal recessive Parkinson disease 141Oct 6, 2022
Autosomal recessive axonal neuropathy with neuromyotonia1Oct 6, 2022
Autosomal recessive bestrophinopathy1Oct 6, 2022
Autosomal recessive distal spinal muscular atrophy 12Oct 6, 2022
Autosomal recessive hypophosphatemic bone disease3Oct 6, 2022
Autosomal recessive inherited pseudoxanthoma elasticum1Oct 6, 2022
Autosomal recessive juvenile Parkinson disease 21Oct 6, 2022
Autosomal recessive limb-girdle muscular dystrophy type 2A13Oct 6, 2022
Autosomal recessive limb-girdle muscular dystrophy type 2B10Oct 6, 2022
Autosomal recessive limb-girdle muscular dystrophy type 2C2Oct 6, 2022
Autosomal recessive limb-girdle muscular dystrophy type 2I5Oct 6, 2022
Autosomal recessive limb-girdle muscular dystrophy type 2J2Oct 6, 2022
Autosomal recessive limb-girdle muscular dystrophy type 2L13Oct 6, 2022
Autosomal recessive limb-girdle muscular dystrophy type 2N2Oct 6, 2022
Autosomal recessive limb-girdle muscular dystrophy type 2O1Oct 6, 2022
Autosomal recessive limb-girdle muscular dystrophy type 2P1Oct 6, 2022
Autosomal recessive limb-girdle muscular dystrophy type 2Q2Oct 6, 2022
Autosomal recessive limb-girdle muscular dystrophy type 2T2Oct 6, 2022
Autosomal recessive limb-girdle muscular dystrophy type 2U1Oct 6, 2022
Autosomal recessive limb-girdle muscular dystrophy type R181Oct 6, 2022
Autosomal recessive nonsyndromic hearing loss 18B1Oct 6, 2022
Autosomal recessive nonsyndromic hearing loss 1A9Oct 6, 2022
Autosomal recessive nonsyndromic hearing loss 231Oct 6, 2022
Autosomal recessive nonsyndromic hearing loss 42Oct 6, 2022
Autosomal recessive nonsyndromic hearing loss 481Oct 6, 2022
Autosomal recessive nonsyndromic hearing loss 531Oct 6, 2022
Autosomal recessive nonsyndromic hearing loss 631Oct 6, 2022
Autosomal recessive nonsyndromic hearing loss 742Oct 6, 2022
Autosomal recessive nonsyndromic hearing loss 773Oct 6, 2022
Autosomal recessive nonsyndromic hearing loss 81Oct 6, 2022
Autosomal recessive nonsyndromic hearing loss 84B2Oct 6, 2022
Autosomal recessive spinocerebellar ataxia 141Oct 6, 2022
Autosomal recessive spinocerebellar ataxia 171Oct 6, 2022
Axenfeld-Rieger syndrome type 11Oct 6, 2022
Ayme-Gripp syndrome1Oct 6, 2022
BAP1-related tumor predisposition syndrome3Oct 6, 2022
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 204Oct 6, 2022
Baraitser-winter syndrome 23Oct 6, 2022
Bardet-Biedl syndrome 101Oct 6, 2022
Bardet-Biedl syndrome 31Oct 6, 2022
Bardet-Biedl syndrome 61Oct 6, 2022
Basal ganglia calcification, idiopathic, 7, autosomal recessive2Oct 6, 2022
Beck-Fahrner syndrome2Oct 6, 2022
Becker muscular dystrophy5Oct 6, 2022
Benign concentric annular macular dystrophy1Oct 6, 2022
Benign familial hematuria5Oct 6, 2022
Benign recurrent intrahepatic cholestasis type 11Oct 6, 2022
Benign recurrent intrahepatic cholestasis type 21Oct 6, 2022
Bernard Soulier syndrome1Oct 6, 2022
Beta-D-mannosidosis1Oct 6, 2022
Beta-thalassemia HBB/LCRB14Oct 6, 2022
Bethlem myopathy 1A17Oct 6, 2022
Bethlem myopathy 23Oct 6, 2022
Biotinidase deficiency6Oct 6, 2022
Birk-Barel syndrome1Oct 6, 2022
Birt-Hogg-Dube syndrome7Oct 6, 2022
Blepharophimosis, ptosis, and epicanthus inversus syndrome1Oct 6, 2022
Bloom syndrome1Oct 6, 2022
Bohring-Opitz syndrome1Oct 6, 2022
Bone mineral density quantitative trait locus 11Oct 6, 2022
Borjeson-Forssman-Lehmann syndrome1Oct 6, 2022
Brain small vessel disease 1 with or without ocular anomalies4Oct 6, 2022
Branchiootic syndrome 12Oct 6, 2022
Branchiootic syndrome 31Oct 6, 2022
Branchiootorenal syndrome 11Oct 6, 2022
Breast-ovarian cancer, familial, susceptibility to, 131Oct 6, 2022
Breast-ovarian cancer, familial, susceptibility to, 237Jul 17, 2023
Breast-ovarian cancer, familial, susceptibility to, 36Oct 6, 2022
Breast-ovarian cancer, familial, susceptibility to, 414Oct 6, 2022
Brittle cornea syndrome 12Oct 6, 2022
Brody myopathy2Oct 6, 2022
Brown-Vialetto-van Laere syndrome 13Oct 6, 2022
Brugada syndrome 17Oct 6, 2022
CBL-related disorder2Oct 6, 2022
CEBALID syndrome2Oct 6, 2022
CHARGE syndrome8Oct 6, 2022
Camptomelic dysplasia1Oct 6, 2022
Cardiac anomalies - developmental delay - facial dysmorphism syndrome3Oct 6, 2022
Cardiac arrhythmia, ankyrin-B-related3Oct 6, 2022
Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies1Oct 6, 2022
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 13Oct 6, 2022
Cardiofaciocutaneous syndrome 31Oct 6, 2022
Cardiomyopathy, familial hypertrophic, 281Oct 6, 2022
Carnitine palmitoyl transferase II deficiency, myopathic form5Oct 6, 2022
Cataract 1 multiple types1Oct 6, 2022
Cataract 10 multiple types1Oct 6, 2022
Cataract 16 multiple types1Oct 6, 2022
Cataract 181Oct 6, 2022
Cataract 2, multiple types1Oct 6, 2022
Cataract 21 multiple types1Oct 6, 2022
Cataract 22 multiple types1Oct 6, 2022
Cataract 3 multiple types1Oct 6, 2022
Cataract 5 multiple types1Oct 6, 2022
Cataract 6 multiple types1Oct 6, 2022
Cataract 9 multiple types2Oct 6, 2022
Catecholaminergic polymorphic ventricular tachycardia 11Oct 6, 2022
Central core myopathy19Oct 6, 2022
Cerebellar ataxia2Dec 9, 2019
Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome1Oct 6, 2022
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 122Oct 6, 2022
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 22Oct 6, 2022
Cerebral cavernous malformation3Oct 6, 2022
Cerebral cavernous malformation 21Oct 6, 2022
Ceroid lipofuscinosis, neuronal, 6A1Oct 6, 2022
Charcot-Marie-Tooth disease X-linked dominant 19Oct 6, 2022
Charcot-Marie-Tooth disease X-linked dominant 61Oct 6, 2022
Charcot-Marie-Tooth disease axonal type 2C1Oct 6, 2022
Charcot-Marie-Tooth disease axonal type 2F3Oct 6, 2022
Charcot-Marie-Tooth disease axonal type 2K6Oct 6, 2022
Charcot-Marie-Tooth disease axonal type 2L1Oct 6, 2022
Charcot-Marie-Tooth disease axonal type 2N2Oct 6, 2022
Charcot-Marie-Tooth disease axonal type 2O2Oct 6, 2022
Charcot-Marie-Tooth disease axonal type 2P3Oct 6, 2022
Charcot-Marie-Tooth disease axonal type 2S1Oct 6, 2022
Charcot-Marie-Tooth disease axonal type 2T3Oct 6, 2022
Charcot-Marie-Tooth disease axonal type 2X1Oct 6, 2022
Charcot-Marie-Tooth disease dominant intermediate B2Oct 6, 2022
Charcot-Marie-Tooth disease dominant intermediate D1Oct 6, 2022
Charcot-Marie-Tooth disease dominant intermediate E1Oct 6, 2022
Charcot-Marie-Tooth disease recessive intermediate C1Oct 6, 2022
Charcot-Marie-Tooth disease type 1B2Oct 6, 2022
Charcot-Marie-Tooth disease type 1C1Oct 6, 2022
Charcot-Marie-Tooth disease type 2A23Oct 6, 2022
Charcot-Marie-Tooth disease type 2I3Oct 6, 2022
Charcot-Marie-Tooth disease type 4A2Oct 6, 2022
Charcot-Marie-Tooth disease type 4C3Oct 6, 2022
Charcot-Marie-Tooth disease type 4F1Oct 6, 2022
Charcot-Marie-Tooth disease type 4G1Oct 6, 2022
Charcot-Marie-Tooth disease type 4H1Oct 6, 2022
Charcot-Marie-Tooth disease type 4J1Oct 6, 2022
Charcot-Marie-Tooth disease type 4K1Oct 6, 2022
Charcot-Marie-Tooth disease, axonal, type 2EE2Oct 6, 2022
Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive1Oct 6, 2022
Charcot-Marie-Tooth disease, demyelinating, type 1G1Oct 6, 2022
Charcot-Marie-Tooth disease, dominant intermediate G3Oct 6, 2022
Charcot-Marie-Tooth disease, type IA1Oct 6, 2022
Charlevoix-Saguenay spastic ataxia6Oct 6, 2022
Childhood apraxia of speech1Oct 6, 2022
Childhood hypophosphatasia2Oct 6, 2022
Childhood onset GLUT1 deficiency syndrome 24Oct 6, 2022
Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder1Oct 6, 2022
Cholestanol storage disease1Oct 6, 2022
Cholestasis, progressive familial intrahepatic, 101Oct 6, 2022
Chorea-acanthocytosis1Oct 6, 2022
Chromosome 1p32-p31 deletion syndrome1Oct 6, 2022
Chromosome 2q32-q33 deletion syndrome1Oct 6, 2022
Ciliary dyskinesia, primary, 47, and lissencephaly1Oct 6, 2022
Clark-Baraitser syndrome4Oct 6, 2022
Cobalamin C disease3Oct 6, 2022
Coffin-Siris syndrome 14Oct 6, 2022
Coffin-Siris syndrome 111Oct 6, 2022
Coffin-Siris syndrome 122Oct 6, 2022
Coffin-Siris syndrome 61Oct 6, 2022
Colorectal cancer3Oct 6, 2022
Colorectal cancer, hereditary nonpolyposis, type 214Oct 6, 2022
Colorectal cancer, susceptibility to, 108Oct 6, 2022
Colorectal cancer, susceptibility to, 1217Oct 6, 2022
Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 11Oct 6, 2022
Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 26Oct 6, 2022
Combined oxidative phosphorylation defect type 141Oct 6, 2022
Combined oxidative phosphorylation defect type 203Oct 6, 2022
Combined oxidative phosphorylation defect type 41Oct 6, 2022
Complex cortical dysplasia with other brain malformations 62Oct 6, 2022
Complex cortical dysplasia with other brain malformations 72Oct 6, 2022
Cone dystrophy 31Oct 6, 2022
Cone dystrophy 42Oct 6, 2022
Cone-rod dystrophy 122Oct 6, 2022
Cone-rod dystrophy 21Oct 6, 2022
Cone-rod dystrophy 202Oct 6, 2022
Congenital adrenal hypoplasia, X-linked1Oct 6, 2022
Congenital bilateral aplasia of vas deferens from CFTR mutation8Oct 6, 2022
Congenital contractural arachnodactyly2Oct 6, 2022
Congenital disorder of glycosylation, type IAA1Oct 6, 2022
Congenital disorder of glycosylation, type iit2Oct 6, 2022
Congenital dyserythropoietic anemia, type II2Oct 6, 2022
Congenital factor VII deficiency1Oct 6, 2022
Congenital fibrosis of extraocular muscles type 14Oct 6, 2022
Congenital heart defects and skeletal malformations syndrome1Oct 6, 2022
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder4Oct 6, 2022
Congenital hyperammonemia, type I1Oct 6, 2022
Congenital lipoid adrenal hyperplasia due to STAR deficency1Oct 6, 2022
Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome1Oct 6, 2022
Congenital microvillous atrophy1Oct 6, 2022
Congenital muscular dystrophy due to LMNA mutation2Oct 6, 2022
Congenital muscular hypertrophy-cerebral syndrome1Oct 6, 2022
Congenital myasthenic syndrome 102Oct 6, 2022
Congenital myasthenic syndrome 111Oct 6, 2022
Congenital myasthenic syndrome 122Oct 6, 2022
Congenital myasthenic syndrome 162Oct 6, 2022
Congenital myasthenic syndrome 3B3Oct 6, 2022
Congenital myasthenic syndrome 4A2Oct 6, 2022
Congenital myasthenic syndrome 4B1Oct 6, 2022
Congenital myasthenic syndrome 4C1Oct 6, 2022
Congenital myasthenic syndrome 52Oct 6, 2022
Congenital myopathy 231Oct 6, 2022
Congenital myopathy 4B, autosomal recessive1Oct 6, 2022
Congenital myopathy with fiber type disproportion2Oct 6, 2022
Congenital myotonia, autosomal dominant form6Oct 6, 2022
Congenital myotonia, autosomal recessive form16Oct 6, 2022
Congenital nongoitrous hypothyroidism 61Oct 6, 2022
Congenital primary aphakia1Oct 6, 2022
Congenital stationary night blindness 1A2Oct 6, 2022
Congenital stationary night blindness 1B1Oct 6, 2022
Congenital stationary night blindness 2A2Oct 6, 2022
Constitutional megaloblastic anemia with severe neurologic disease1Oct 6, 2022
Cornelia de Lange syndrome 13Oct 6, 2022
Cortical dysplasia-focal epilepsy syndrome2Oct 6, 2022
Costello syndrome1Oct 6, 2022
Cowden syndrome 19Oct 6, 2022
Cowden syndrome 51Oct 6, 2022
Cowden syndrome 71Oct 6, 2022
Creatine transporter deficiency1Oct 6, 2022
Crigler-Najjar syndrome type 12Oct 6, 2022
Cyclical neutropenia1Oct 6, 2022
Cystic fibrosis16Oct 6, 2022
Cystinuria3Oct 6, 2022
D,L-2-hydroxyglutaric aciduria1Oct 6, 2022
DYRK1A-related intellectual disability syndrome5Oct 6, 2022
DeSanto-Shinawi syndrome due to WAC point mutation2Oct 6, 2022
Deeah syndrome1Oct 6, 2022
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase2Oct 6, 2022
Deficiency of alpha-mannosidase3Oct 6, 2022
Deficiency of butyryl-CoA dehydrogenase3Oct 6, 2022
Deficiency of butyrylcholinesterase1Oct 6, 2022
Deficiency of ferroxidase1Oct 6, 2022
Deficiency of steroid 17-alpha-monooxygenase2Oct 6, 2022
Dehydrated hereditary stomatocytosis 21Oct 6, 2022
Delpire-McNeill syndrome1Oct 6, 2022
Dentinogenesis imperfecta type 21Oct 6, 2022
Desmin-related myofibrillar myopathy3Oct 6, 2022
Developmental and epileptic encephalopathy 6B1Oct 6, 2022
Developmental and epileptic encephalopathy 942Oct 6, 2022
Developmental and epileptic encephalopathy 992Oct 6, 2022
Developmental and epileptic encephalopathy, 11Oct 6, 2022
Developmental and epileptic encephalopathy, 115Oct 6, 2022
Developmental and epileptic encephalopathy, 132Oct 6, 2022
Developmental and epileptic encephalopathy, 172Oct 6, 2022
Developmental and epileptic encephalopathy, 24Oct 6, 2022
Developmental and epileptic encephalopathy, 241Oct 6, 2022
Developmental and epileptic encephalopathy, 263Oct 6, 2022
Developmental and epileptic encephalopathy, 311Oct 6, 2022
Developmental and epileptic encephalopathy, 323Oct 6, 2022
Developmental and epileptic encephalopathy, 331Oct 6, 2022
Developmental and epileptic encephalopathy, 44Oct 6, 2022
Developmental and epileptic encephalopathy, 427Oct 6, 2022
Developmental and epileptic encephalopathy, 431Oct 6, 2022
Developmental and epileptic encephalopathy, 462Oct 6, 2022
Developmental and epileptic encephalopathy, 51Oct 6, 2022
Developmental and epileptic encephalopathy, 531Oct 6, 2022
Developmental and epileptic encephalopathy, 561Oct 6, 2022
Developmental and epileptic encephalopathy, 593Oct 6, 2022
Developmental and epileptic encephalopathy, 641Oct 6, 2022
Developmental and epileptic encephalopathy, 661Oct 6, 2022
Developmental and epileptic encephalopathy, 672Oct 6, 2022
Developmental and epileptic encephalopathy, 74Oct 6, 2022
Developmental and epileptic encephalopathy, 741Oct 6, 2022
Developmental and epileptic encephalopathy, 781Oct 6, 2022
Developmental and epileptic encephalopathy, 81Oct 6, 2022
Developmental and epileptic encephalopathy, 821Oct 6, 2022
Developmental and epileptic encephalopathy, 861Oct 6, 2022
Developmental and epileptic encephalopathy, 92Oct 6, 2022
Developmental delay with autism spectrum disorder and gait instability2Oct 6, 2022
Developmental delay with or without dysmorphic facies and autism4Oct 6, 2022
Developmental delay with or without intellectual impairment or behavioral abnormalities1Oct 6, 2022
Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy1Oct 6, 2022
Developmental delay, impaired speech, and behavioral abnormalities1Oct 6, 2022
Diabetes mellitus, permanent neonatal 31Oct 6, 2022
Diamond-Blackfan anemia 121Oct 6, 2022
Dias-Logan syndrome2Jul 17, 2023
Dihydropyrimidinase deficiency1Oct 6, 2022
Dilated cardiomyopathy 1A2Oct 6, 2022
Dilated cardiomyopathy 1E1Oct 6, 2022
Dilated cardiomyopathy 1EE2Oct 6, 2022
Dilated cardiomyopathy 1G3Oct 6, 2022
Dilated cardiomyopathy 1KK1Oct 6, 2022
Dilated cardiomyopathy 1O1Oct 6, 2022
Dilated cardiomyopathy 1R1Oct 6, 2022
Dilated cardiomyopathy 1S2Oct 6, 2022
Distal arthrogryposis type 2B11Oct 6, 2022
Distal myopathy with posterior leg and anterior hand involvement1Oct 6, 2022
Dubin-Johnson syndrome1Oct 6, 2022
Duchenne muscular dystrophy9Oct 6, 2022
Dysarthria1Dec 9, 2019
Dyskeratosis congenita, autosomal dominant 11Oct 6, 2022
Dyskinesia with orofacial involvement, autosomal dominant2Oct 6, 2022
Dystonia 121Oct 6, 2022
Dystonia 241Oct 6, 2022
Dystonia 271Oct 6, 2022
Dystonia 28, childhood-onset2Oct 6, 2022
Dystonia 51Oct 6, 2022
Dystonia 91Oct 6, 2022
Early-onset generalized limb-onset dystonia1Oct 6, 2022
Early-onset myopathy with fatal cardiomyopathy2Oct 6, 2022
Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis2Oct 6, 2022
Ectopia lentis 2, isolated, autosomal recessive2Oct 6, 2022
Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 32Oct 6, 2022
Ehlers-Danlos syndrome due to tenascin-X deficiency13Oct 6, 2022
Ehlers-Danlos syndrome, arthrochalasia type1Oct 6, 2022
Ehlers-Danlos syndrome, classic type, 114Oct 6, 2022
Ehlers-Danlos syndrome, classic type, 22Oct 6, 2022
Ehlers-Danlos syndrome, type 47Oct 6, 2022
Eichsfeld type congenital muscular dystrophy3Oct 6, 2022
Elliptocytosis 21Oct 6, 2022
Emery-Dreifuss muscular dystrophy 2, autosomal dominant3Oct 6, 2022
Emery-Dreifuss muscular dystrophy 4, autosomal dominant1Oct 6, 2022
Emery-Dreifuss muscular dystrophy 5, autosomal dominant1Oct 6, 2022
Encephalopathy due to GLUT1 deficiency4Oct 6, 2022
Endometrial carcinoma1Oct 6, 2022
Epilepsy, early-onset, with or without developmental delay1Oct 6, 2022
Epilepsy, familial focal, with variable foci 11Oct 6, 2022
Epilepsy, familial focal, with variable foci 32Oct 6, 2022
Epilepsy, familial temporal lobe, 11Oct 6, 2022
Epilepsy, idiopathic generalized, susceptibility to, 141Oct 6, 2022
Epilepsy, idiopathic generalized, susceptibility to, 151Oct 6, 2022
Epilepsy, progressive myoclonic, 112Oct 6, 2022
Epileptic encephalopathy, infantile or early childhood, 11Oct 6, 2022
Epileptic encephalopathy, infantile or early childhood, 23Oct 6, 2022
Episodic ataxia type 12Oct 6, 2022
Episodic ataxia type 25Oct 6, 2022
Episodic ataxia type 61Oct 6, 2022
Episodic ataxia, type 92Oct 6, 2022
Episodic kinesigenic dyskinesia 13Oct 6, 2022
Episodic pain syndrome, familial, 24Oct 6, 2022
Epithelial recurrent erosion dystrophy1Oct 6, 2022
Epsilon-trimethyllysine hydroxylase deficiency1Oct 6, 2022
Ethylmalonic encephalopathy2Oct 6, 2022
Euthyroid goiter1Oct 6, 2022
Exercise intolerance, riboflavin-responsive1Oct 6, 2022
Exostoses, multiple, type 12Oct 6, 2022
Exostoses, multiple, type 22Oct 6, 2022
Fabry disease3Oct 6, 2022
Facioscapulohumeral muscular dystrophy 25Oct 6, 2022
Familial Mediterranean fever12Oct 6, 2022
Familial Mediterranean fever, autosomal dominant1Oct 6, 2022
Familial X-linked hypophosphatemic vitamin D refractory rickets1Oct 6, 2022
Familial adenomatous polyposis 116Oct 6, 2022
Familial adenomatous polyposis 214Oct 6, 2022
Familial adenomatous polyposis 35Oct 6, 2022
Familial adenomatous polyposis 44Oct 6, 2022
Familial amyloid nephropathy with urticaria AND deafness1Oct 6, 2022
Familial amyloid neuropathy3Oct 6, 2022
Familial cancer of breast313Jun 11, 2024
Familial cold autoinflammatory syndrome 11Oct 6, 2022
Familial cold autoinflammatory syndrome 22Oct 6, 2022
Familial episodic pain syndrome with predominantly upper body involvement1Oct 6, 2022
Familial hemophagocytic lymphohistiocytosis 51Oct 6, 2022
Familial hypocalciuric hypercalcemia 11Oct 6, 2022
Familial hypokalemia-hypomagnesemia12Oct 6, 2022
Familial juvenile hyperuricemic nephropathy type 13Oct 6, 2022
Familial medullary thyroid carcinoma2Oct 6, 2022
Familial spontaneous pneumothorax1Oct 6, 2022
Familial type 5 hyperlipoproteinemia2Oct 6, 2022
Familial visceral amyloidosis, Ostertag type1Oct 6, 2022
Fanconi anemia complementation group A1Oct 6, 2022
Fanconi anemia complementation group J1Oct 6, 2022
Fanconi anemia complementation group N1Jul 17, 2023
Febrile seizures, familial, 41Oct 6, 2022
Febrile seizures, familial, 82Oct 6, 2022
Feingold syndrome type 12Oct 6, 2022
Female infertility due to zona pellucida defect1Oct 6, 2022
Focal segmental glomerulosclerosis 51Oct 6, 2022
Focal segmental glomerulosclerosis 71Oct 6, 2022
Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome1Oct 6, 2022
Fraser syndrome 11Oct 6, 2022
Frontotemporal dementia2Oct 6, 2022
Frontotemporal dementia and/or amyotrophic lateral sclerosis 32Oct 6, 2022
Frontotemporal dementia and/or amyotrophic lateral sclerosis 43Oct 6, 2022
GNE myopathy3Oct 6, 2022
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions1Oct 6, 2022
Gait disturbance1Dec 9, 2019
Galactosylceramide beta-galactosidase deficiency6Oct 6, 2022
Galloway-Mowat syndrome 12Oct 6, 2022
Gastric adenocarcinoma and proximal polyposis of the stomach1Oct 6, 2022
Gastrointestinal stromal tumor1Oct 6, 2022
Generalized dominant dystrophic epidermolysis bullosa1Oct 6, 2022
Generalized epilepsy with febrile seizures plus, type 27Oct 6, 2022
Generalized epilepsy with febrile seizures plus, type 91Oct 6, 2022
Ghosal hematodiaphyseal dysplasia1Oct 6, 2022
Giant axonal neuropathy 11Oct 6, 2022
Gilbert syndrome2Oct 6, 2022
Glaucoma, primary closed-angle2Oct 6, 2022
Global developmental delay with or without impaired intellectual development1Oct 6, 2022
Global developmental delay with speech and behavioral abnormalities1Oct 6, 2022
Glomuvenous malformation1Oct 6, 2022
Glucocorticoid deficiency with achalasia3Oct 6, 2022
Glycogen storage disease IXa11Oct 6, 2022
Glycogen storage disease IXb1Oct 6, 2022
Glycogen storage disease IXd2Oct 6, 2022
Glycogen storage disease XV1Oct 6, 2022
Glycogen storage disease due to phosphoglycerate kinase 1 deficiency1Oct 6, 2022
Glycogen storage disease, type II10Oct 6, 2022
Glycogen storage disease, type IV4Oct 6, 2022
Glycogen storage disease, type V3Oct 6, 2022
Glycosylphosphatidylinositol biosynthesis defect 152Oct 6, 2022
Gnb5-related intellectual disability-cardiac arrhythmia syndrome1Oct 6, 2022
Gonadal dysgenesis2Dec 9, 2019
Gorlin syndrome7Oct 6, 2022
Greenberg dysplasia2Oct 6, 2022
Growth delay due to insulin-like growth factor I resistance1Oct 6, 2022
Hajdu-Cheney syndrome1Oct 6, 2022
Hao-Fountain syndrome1Oct 6, 2022
Harel-Yoon syndrome1Oct 6, 2022
Hearing loss, autosomal recessive 1111Oct 6, 2022
Hemochromatosis type 11Oct 6, 2022
Hemochromatosis type 2A1Oct 6, 2022
Hemorrhage, intracerebral, susceptibility to1Oct 6, 2022
Hereditary antithrombin deficiency1Oct 6, 2022
Hereditary coproporphyria1Oct 6, 2022
Hereditary diffuse gastric adenocarcinoma7Oct 6, 2022
Hereditary hyperferritinemia with congenital cataracts1Oct 6, 2022
Hereditary insensitivity to pain with anhidrosis1Oct 6, 2022
Hereditary leiomyomatosis and renal cell cancer10Oct 6, 2022
Hereditary pancreatitis9Oct 6, 2022
Hereditary sensory and autonomic neuropathy type 71Oct 6, 2022
Hereditary sensory neuropathy-deafness-dementia syndrome1Oct 6, 2022
Hereditary spastic paraplegia 106Oct 6, 2022
Hereditary spastic paraplegia 22Oct 6, 2022
Hereditary spastic paraplegia 311Oct 6, 2022
Hereditary spastic paraplegia 331Oct 6, 2022
Hereditary spastic paraplegia 351Oct 6, 2022
Hereditary spastic paraplegia 3A2Oct 6, 2022
Hereditary spastic paraplegia 412Oct 6, 2022
Hereditary spastic paraplegia 451Oct 6, 2022
Hereditary spastic paraplegia 471Oct 6, 2022
Hereditary spastic paraplegia 511Oct 6, 2022
Hereditary spastic paraplegia 542Oct 6, 2022
Hereditary spastic paraplegia 562Oct 6, 2022
Hereditary spastic paraplegia 5A1Oct 6, 2022
Hereditary spastic paraplegia 713Jul 17, 2023
Hereditary spastic paraplegia 731Oct 6, 2022
Hereditary spherocytosis type 22Oct 6, 2022
Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX11Oct 6, 2022
Heterotaxy, visceral, 9, autosomal, with male infertility2Oct 6, 2022
Hirschsprung disease, susceptibility to, 13Oct 6, 2022
Hogue-Janssens syndrome 11Oct 6, 2022
Holoprosencephaly 31Oct 6, 2022
Holoprosencephaly 71Oct 6, 2022
Holt-Oram syndrome1Oct 6, 2022
Homocystinuria due to methylene tetrahydrofolate reductase deficiency2Oct 6, 2022
Houge-Janssens syndrome 31Oct 6, 2022
Hydrocephalus, congenital communicating, 11Oct 6, 2022
Hydrocephalus, nonsyndromic, autosomal recessive 22Oct 6, 2022
Hypercholesterolemia, autosomal dominant, type B2Oct 6, 2022
Hypercholesterolemia, familial, 123Oct 6, 2022
Hyperkalemic periodic paralysis4Oct 6, 2022
Hyperlipoproteinemia, type 1D1Oct 6, 2022
Hyperparathyroidism 2 with jaw tumors2Oct 6, 2022
Hyperphosphatasia with intellectual disability syndrome 22Oct 6, 2022
Hypertrophic cardiomyopathy 16Oct 6, 2022
Hypertrophic cardiomyopathy 101Oct 6, 2022
Hypertrophic cardiomyopathy 181Oct 6, 2022
Hypertrophic cardiomyopathy 251Oct 6, 2022
Hypertrophic cardiomyopathy 261Oct 6, 2022
Hypertrophic cardiomyopathy 31Oct 6, 2022
Hypertrophic cardiomyopathy 46Oct 6, 2022
Hypertrophic cardiomyopathy 61Oct 6, 2022
Hypertrophic cardiomyopathy 72Oct 6, 2022
Hypertrophic cardiomyopathy 91Oct 6, 2022
Hypoalphalipoproteinemia, primary, 11Oct 6, 2022
Hypochondroplasia1Oct 6, 2022
Hypogonadotropic hypogonadism 2 with or without anosmia2Oct 6, 2022
Hypogonadotropic hypogonadism 21 with or without anosmia1Oct 6, 2022
Hypogonadotropic hypogonadism 25 with anosmia1Oct 6, 2022
Hypogonadotropic hypogonadism 3 with or without anosmia1Oct 6, 2022
Hypogonadotropic hypogonadism 6 with or without anosmia1Oct 6, 2022
Hypogonadotropic hypogonadism 7 with or without anosmia2Oct 6, 2022
Hypohidrotic X-linked ectodermal dysplasia1Oct 6, 2022
Hypokalemic periodic paralysis, type 14Oct 6, 2022
Hypokalemic periodic paralysis, type 21Oct 6, 2022
Hypomagnesemia, seizures, and intellectual disability 11Oct 6, 2022
Hypomyelinating leukodystrophy 61Oct 6, 2022
Hypothyroidism, congenital, nongoitrous, 21Oct 6, 2022
Hypotonia, ataxia, and delayed development syndrome2Oct 6, 2022
Hypotonia, infantile, with psychomotor retardation and characteristic facies 31Oct 6, 2022
IMAGe syndrome1Oct 6, 2022
Ichthyosis vulgaris3Oct 6, 2022
Idiopathic basal ganglia calcification 11Oct 6, 2022
Imerslund-Grasbeck syndrome type 12Oct 6, 2022
Immunodeficiency, common variable, 101Oct 6, 2022
Increased circulating lactate concentration1Dec 9, 2019
Infantile GM1 gangliosidosis2Oct 6, 2022
Infantile hypophosphatasia1Oct 6, 2022
Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome1Oct 6, 2022
Infantile neuroaxonal dystrophy1Oct 6, 2022
Infantile-onset ascending hereditary spastic paralysis1Oct 6, 2022
Inflammatory bowel disease 301Oct 6, 2022
Insulin-resistant diabetes mellitus AND acanthosis nigricans1Oct 6, 2022
Intellectual developmental disorder 622Oct 6, 2022
Intellectual developmental disorder with autism and macrocephaly3Oct 6, 2022
Intellectual developmental disorder with autistic features and language delay, with or without seizures4Oct 6, 2022
Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities1Oct 6, 2022
Intellectual developmental disorder with dysmorphic facies and ptosis1Oct 6, 2022
Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold2Oct 6, 2022
Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies1Oct 6, 2022
Intellectual developmental disorder with macrocephaly, seizures, and speech delay1Oct 6, 2022
Intellectual developmental disorder with or without epilepsy or cerebellar ataxia2Oct 6, 2022
Intellectual developmental disorder with seizures and language delay3Oct 6, 2022
Intellectual developmental disorder with severe speech and ambulation defects1Oct 6, 2022
Intellectual developmental disorder with speech delay, autism, and dysmorphic facies2Oct 6, 2022
Intellectual developmental disorder, X-linked 1081Oct 6, 2022
Intellectual developmental disorder, autosomal dominant 63, with macrocephaly1Oct 6, 2022
Intellectual developmental disorder, autosomal dominant 641Oct 6, 2022
Intellectual developmental disorder, autosomal recessive 672Oct 6, 2022
Intellectual disability, X-linked 11Oct 6, 2022
Intellectual disability, X-linked 1011Oct 6, 2022
Intellectual disability, X-linked 1022Oct 6, 2022
Intellectual disability, X-linked 1041Oct 6, 2022
Intellectual disability, X-linked 1061Oct 6, 2022
Intellectual disability, X-linked 612Oct 6, 2022
Intellectual disability, X-linked 631Oct 6, 2022
Intellectual disability, X-linked 931Oct 6, 2022
Intellectual disability, X-linked 961Oct 6, 2022
Intellectual disability, X-linked 991Oct 6, 2022
Intellectual disability, X-linked syndromic, Turner type2Oct 6, 2022
Intellectual disability, autosomal dominant 13Oct 6, 2022
Intellectual disability, autosomal dominant 133Oct 6, 2022
Intellectual disability, autosomal dominant 143Oct 6, 2022
Intellectual disability, autosomal dominant 152Oct 6, 2022
Intellectual disability, autosomal dominant 161Oct 6, 2022
Intellectual disability, autosomal dominant 221Oct 6, 2022
Intellectual disability, autosomal dominant 302Oct 6, 2022
Intellectual disability, autosomal dominant 381Oct 6, 2022
Intellectual disability, autosomal dominant 393Oct 6, 2022
Intellectual disability, autosomal dominant 401Oct 6, 2022
Intellectual disability, autosomal dominant 422Oct 6, 2022
Intellectual disability, autosomal dominant 431Oct 6, 2022
Intellectual disability, autosomal dominant 451Oct 6, 2022
Intellectual disability, autosomal dominant 472Oct 6, 2022
Intellectual disability, autosomal dominant 53Oct 6, 2022
Intellectual disability, autosomal dominant 501Oct 6, 2022
Intellectual disability, autosomal dominant 511Oct 6, 2022
Intellectual disability, autosomal dominant 522Oct 6, 2022
Intellectual disability, autosomal dominant 531Oct 6, 2022
Intellectual disability, autosomal dominant 55, with seizures3Oct 6, 2022
Intellectual disability, autosomal dominant 562Oct 6, 2022
Intellectual disability, autosomal dominant 571Oct 6, 2022
Intellectual disability, autosomal dominant 63Oct 6, 2022
Intellectual disability, autosomal dominant 81Oct 6, 2022
Intellectual disability, autosomal dominant 92Oct 6, 2022
Intellectual disability, autosomal recessive 131Oct 6, 2022
Intellectual disability, autosomal recessive 271Oct 6, 2022
Intellectual disability, autosomal recessive 461Oct 6, 2022
Intellectual disability-epilepsy-extrapyramidal syndrome1Oct 6, 2022
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency5Oct 6, 2022
Intellectual disability-hypotonia-spasticity-sleep disorder syndrome1Oct 6, 2022
Intellectual disability-hypotonic facies syndrome, X-linked, 14Oct 6, 2022
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome3Oct 6, 2022
Intellectual disability-severe speech delay-mild dysmorphism syndrome3Oct 6, 2022
Intellectual disability-strabismus syndrome3Oct 6, 2022
Intestinal hypomagnesemia 11Oct 6, 2022
Iron-refractory iron deficiency anemia2Oct 6, 2022
Isolated cryptophthalmia1Oct 6, 2022
Johanson-Blizzard syndrome1Oct 6, 2022
Joubert syndrome 181Oct 6, 2022
Joubert syndrome 231Oct 6, 2022
Joubert syndrome 321Oct 6, 2022
Joubert syndrome 91Oct 6, 2022
Junctional epidermolysis bullosa with pyloric atresia2Oct 6, 2022
Junctional epidermolysis bullosa, non-Herlitz type1Oct 6, 2022
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke6Oct 6, 2022
Juvenile polyposis syndrome5Oct 6, 2022
Juvenile retinoschisis1Oct 6, 2022
KBG syndrome11Oct 6, 2022
KINSSHIP syndrome1Oct 6, 2022
Kabuki syndrome 17Oct 6, 2022
Kabuki syndrome 21Oct 6, 2022
Kearns-Sayre syndrome1Oct 6, 2022
Keratosis follicularis1Oct 6, 2022
King Denborough syndrome1Oct 6, 2022
Kleefstra syndrome 13Oct 6, 2022
Kleefstra syndrome 25Oct 6, 2022
Knobloch syndrome 13Oct 6, 2022
Kugelberg-Welander disease1Oct 6, 2022
L-2-hydroxyglutaric aciduria2Oct 6, 2022
LEOPARD syndrome 11Oct 6, 2022
LEOPARD syndrome 31Oct 6, 2022
Lamb-Shaffer syndrome2Oct 6, 2022
Landau-Kleffner syndrome4Oct 6, 2022
Larsen syndrome1Oct 6, 2022
Lattice corneal dystrophy Type I1Oct 6, 2022
Leber congenital amaurosis 102Oct 6, 2022
Leber congenital amaurosis 133Oct 6, 2022
Leber congenital amaurosis 21Oct 6, 2022
Leber congenital amaurosis 61Oct 6, 2022
Leber hereditary optic neuropathy, autosomal recessive1Oct 6, 2022
Leber optic atrophy1Oct 6, 2022
Leber optic atrophy, susceptibility to1Oct 6, 2022
Left ventricular noncompaction 103Oct 6, 2022
Left ventricular noncompaction 81Oct 6, 2022
Legius syndrome3Oct 6, 2022
Leigh syndrome1Oct 6, 2022
Lethal tight skin contracture syndrome1Oct 6, 2022
Leukoencephalopathy, diffuse hereditary, with spheroids 11Oct 6, 2022
Leukoencephalopathy, progressive, with ovarian failure2Oct 6, 2022
Li-Fraumeni syndrome 111Oct 6, 2022
Limb-girdle muscular dystrophy due to POMK deficiency1Oct 6, 2022
Lissencephaly 101Oct 6, 2022
Lissencephaly 9 with complex brainstem malformation1Oct 6, 2022
Lissencephaly due to LIS1 mutation1Oct 6, 2022
Lissencephaly due to TUBA1A mutation4Oct 6, 2022
Lissencephaly type 1 due to doublecortin gene mutation1Oct 6, 2022
Loeys-Dietz syndrome 14Oct 6, 2022
Loeys-Dietz syndrome 22Oct 6, 2022
Loeys-Dietz syndrome 43Oct 6, 2022
Long QT syndrome 111Oct 6, 2022
Long QT syndrome 112Oct 6, 2022
Long QT syndrome 151Oct 6, 2022
Long QT syndrome 22Oct 6, 2022
Long QT syndrome 31Oct 6, 2022
Long qt syndrome 81Oct 6, 2022
Luscan-Lumish syndrome3Oct 6, 2022
Lymphatic malformation 62Oct 6, 2022
Lynch syndrome 115Oct 6, 2022
Lynch syndrome 415Oct 6, 2022
Lynch syndrome 521Oct 6, 2022
Lynch syndrome 81Oct 6, 2022
MEGF10-related myopathy1Oct 6, 2022
MEGF8-related Carpenter syndrome1Oct 6, 2022
MERRF syndrome2Oct 6, 2022
MERRF/MELAS overlap syndrome1Aug 16, 2022
MYPN-related myopathy1Oct 6, 2022
Macrocephaly, acquired, with impaired intellectual development2Oct 6, 2022
Macrocephaly-autism syndrome1Oct 6, 2022
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss2Oct 6, 2022
Macrothrombocytopenia, isolated, 1, autosomal dominant2Oct 6, 2022
Macular corneal dystrophy3Oct 6, 2022
Macular degeneration, age-related, 31Oct 6, 2022
Malan overgrowth syndrome1Oct 6, 2022
Malignant hyperthermia, susceptibility to, 113Oct 6, 2022
Malignant hyperthermia, susceptibility to, 51Oct 6, 2022
Malignant tumor of prostate4Oct 6, 2022
Mandibulofacial dysostosis-microcephaly syndrome1Oct 6, 2022
Marden-Walker syndrome1Oct 6, 2022
Marfan syndrome14Oct 6, 2022
Marinesco-Sjögren syndrome1Oct 6, 2022
Maturity-onset diabetes of the young type 12Oct 6, 2022
Maturity-onset diabetes of the young type 102Oct 6, 2022
Maturity-onset diabetes of the young type 28Oct 6, 2022
Maturity-onset diabetes of the young type 33Oct 6, 2022
Meckel syndrome, type 42Oct 6, 2022
Medium-chain acyl-coenzyme A dehydrogenase deficiency7Oct 6, 2022
Medulloblastoma1Oct 6, 2022
Megacystis-microcolon-intestinal hypoperistalsis syndrome 51Oct 6, 2022
Megalencephaly-capillary malformation-polymicrogyria syndrome1Oct 6, 2022
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 11Oct 6, 2022
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 31Oct 6, 2022
Melanoma, cutaneous malignant, susceptibility to, 23Oct 6, 2022
Melanoma, cutaneous malignant, susceptibility to, 91Oct 6, 2022
Melanoma-pancreatic cancer syndrome1Oct 6, 2022
Menke-Hennekam syndrome 12Oct 6, 2022
Menke-Hennekam syndrome 21Oct 6, 2022
Menkes kinky-hair syndrome1Oct 6, 2022
Merosin deficient congenital muscular dystrophy3Oct 6, 2022
Mesoaxial synostotic syndactyly with phalangeal reduction1Oct 6, 2022
Metachromatic leukodystrophy2Oct 6, 2022
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency2Oct 6, 2022
Methylmalonic aciduria, cblB type2Oct 6, 2022
Microangiopathy and leukoencephalopathy, pontine, autosomal dominant1Oct 6, 2022
Microcephaly 18, primary, autosomal dominant1Oct 6, 2022
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations1Oct 6, 2022
Microcephaly 3, primary, autosomal recessive1Oct 6, 2022
Microcephaly 5, primary, autosomal recessive2Oct 6, 2022
Microcephaly 9, primary, autosomal recessive2Oct 6, 2022
Microcephaly and chorioretinopathy 11Oct 6, 2022
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability3Oct 6, 2022
Microcephaly, short stature, and impaired glucose metabolism 12Oct 6, 2022
Microcephaly-capillary malformation syndrome1Oct 6, 2022
Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome4Oct 6, 2022
Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome2Oct 6, 2022
Migraine, familial hemiplegic, 11Oct 6, 2022
Migraine, familial hemiplegic, 23Oct 6, 2022
Mismatch repair cancer syndrome 11Oct 6, 2022
Mismatch repair cancer syndrome 31Oct 6, 2022
Mismatch repair cancer syndrome 43Oct 6, 2022
Mitochondrial DNA deletion syndrome with progressive myopathy1Oct 6, 2022
Mitochondrial DNA depletion syndrome 12Oct 6, 2022
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)1Oct 6, 2022
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)2Oct 6, 2022
Mitochondrial DNA depletion syndrome, myopathic form1Oct 6, 2022
Mitochondrial complex 1 deficiency, nuclear type 192Oct 6, 2022
Mitochondrial complex 1 deficiency, nuclear type 21Oct 6, 2022
Mitochondrial complex 1 deficiency, nuclear type 261Oct 6, 2022
Mitochondrial complex 1 deficiency, nuclear type 312Oct 6, 2022
Mitochondrial complex 1 deficiency, nuclear type 62Oct 6, 2022
Mitochondrial complex 1 deficiency, nuclear type 91Oct 6, 2022
Mitochondrial complex 5 (ATP synthase) deficiency, mitochondrial type 12Oct 6, 2022
Mitochondrial complex IV deficiency, nuclear type 12Oct 6, 2022
Mitochondrial myopathy with reversible cytochrome C oxidase deficiency1Oct 6, 2022
Mitochondrial trifunctional protein deficiency1Oct 6, 2022
Miyoshi muscular dystrophy 31Oct 6, 2022
Mosaic variegated aneuploidy syndrome 21Oct 6, 2022
Mowat-Wilson syndrome1Oct 6, 2022
Mucopolysaccharidosis type 61Oct 6, 2022
Mucopolysaccharidosis, MPS-I-H/S2Oct 6, 2022
Mucopolysaccharidosis, MPS-II5Oct 6, 2022
Mucopolysaccharidosis, MPS-III-A1Oct 6, 2022
Mucopolysaccharidosis, MPS-IV-B3Oct 6, 2022
Muenke syndrome1Oct 6, 2022
Muir-Torré syndrome2Oct 6, 2022
Multiple acyl-CoA dehydrogenase deficiency6Oct 6, 2022
Multiple congenital anomalies-hypotonia-seizures syndrome 11Oct 6, 2022
Multiple congenital anomalies-hypotonia-seizures syndrome 32Oct 6, 2022
Multiple endocrine neoplasia type 2A4Oct 6, 2022
Multiple endocrine neoplasia type 2B1Oct 6, 2022
Multiple endocrine neoplasia, type 17Oct 6, 2022
Multiple epiphyseal dysplasia type 12Oct 6, 2022
Muscular dystrophy, limb-girdle, autosomal dominant 42Oct 6, 2022
Muscular dystrophy, limb-girdle, autosomal recessive 234Oct 6, 2022
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13Oct 6, 2022
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A131Oct 6, 2022
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A141Oct 6, 2022
Myasthenic syndrome, congenital, 221Oct 6, 2022
Myhre syndrome1Oct 6, 2022
Myoclonic dystonia 114Oct 6, 2022
Myoclonic epilepsy, juvenile, susceptibility to, 11Oct 6, 2022
Myoclonic-astatic epilepsy3Oct 6, 2022
Myofibrillar myopathy 32Oct 6, 2022
Myopathy, distal, 51Oct 6, 2022
Myopathy, distal, 6, adult-onset, autosomal dominant1Oct 6, 2022
Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy1Oct 6, 2022
Myopathy, myofibrillar, 9, with early respiratory failure1Oct 6, 2022
Myopathy, proximal, and ophthalmoplegia1Oct 6, 2022
Myopathy, tubular aggregate, 21Oct 6, 2022
Myosin storage myopathy4Oct 6, 2022
Nail-patella syndrome1Oct 6, 2022
Nance-Horan syndrome2Oct 6, 2022
Nemaline myopathy 27Oct 6, 2022
Nemaline myopathy 61Oct 6, 2022
Nemaline myopathy 82Oct 6, 2022
Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome1Oct 6, 2022
Neonatal severe primary hyperparathyroidism1Oct 6, 2022
Nephronophthisis 11Oct 6, 2022
Nephrotic syndrome, type 211Oct 6, 2022
Nephrotic syndrome, type 41Oct 6, 2022
Neurodegeneration with brain iron accumulation 52Oct 6, 2022
Neurodegeneration, childhood-onset, with hypotonia, respiratory insufficiency, and brain imaging abnormalities1Oct 6, 2022
Neurodevelopmental disorder with absent language and variable seizures1Oct 6, 2022
Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction1Oct 6, 2022
Neurodevelopmental disorder with cerebellar atrophy and with or without seizures1Oct 6, 2022
Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities2Oct 6, 2022
Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies4Oct 6, 2022
Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies1Oct 6, 2022
Neurodevelopmental disorder with hearing loss and spasticity1Oct 6, 2022
Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities1Oct 6, 2022
Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation1Oct 6, 2022
Neurodevelopmental disorder with hypotonia, neuropathy, and deafness2Oct 6, 2022
Neurodevelopmental disorder with microcephaly and dysmorphic facies1Oct 6, 2022
Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy1Oct 6, 2022
Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures2Oct 6, 2022
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart2Oct 6, 2022
Neurodevelopmental disorder with or without autism or seizures3Oct 6, 2022
Neurodevelopmental disorder with or without early-onset generalized epilepsy1Oct 6, 2022
Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA1Oct 6, 2022
Neurodevelopmental disorder with poor language and loss of hand skills2Oct 6, 2022
Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures1Oct 6, 2022
Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures1Oct 6, 2022
Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities2Oct 6, 2022
Neurofibromatosis, type 157Jul 17, 2023
Neurofibromatosis, type 23Oct 6, 2022
Neurofibromatosis-Noonan syndrome1Oct 6, 2022
Neuronal ceroid lipofuscinosis 21Oct 6, 2022
Neuronal ceroid lipofuscinosis 72Oct 6, 2022
Neuronopathy, distal hereditary motor, autosomal recessive 51Oct 6, 2022
Neuronopathy, distal hereditary motor, autosomal recessive 86Oct 6, 2022
Neuronopathy, distal hereditary motor, type 2D1Oct 6, 2022
Neuronopathy, distal hereditary motor, type 5A1Oct 6, 2022
Neuronopathy, distal hereditary motor, type 5B1Oct 6, 2022
Neuronopathy, distal hereditary motor, type 5C3Oct 6, 2022
Neuronopathy, distal hereditary motor, type 91Oct 6, 2022
Neurooculocardiogenitourinary syndrome1Oct 6, 2022
Neuropathy, hereditary sensory and autonomic, type 1C4Oct 6, 2022
Neuropathy, hereditary sensory, type 2C2Oct 6, 2022
Neutral lipid storage myopathy1Oct 6, 2022
Niemann-Pick disease, type A2Oct 6, 2022
Nizon-Isidor syndrome2Oct 6, 2022
Noonan syndrome 110Jul 17, 2023
Noonan syndrome 102Oct 6, 2022
Noonan syndrome 71Oct 6, 2022
Noonan syndrome 82Oct 6, 2022
Noonan syndrome 91Oct 6, 2022
Noonan syndrome-like disorder with loose anagen hair 11Oct 6, 2022
Nystagmus 6, congenital, X-linked1Oct 6, 2022
O'Donnell-Luria-Rodan syndrome3Oct 6, 2022
Obesity due to leptin receptor gene deficiency1Oct 6, 2022
Occult macular dystrophy2Oct 6, 2022
Ocular albinism, type II1Oct 6, 2022
Oculocutaneous albinism type 1B2Oct 6, 2022
Odonto-onycho-dermal dysplasia2Oct 6, 2022
Okur-Chung neurodevelopmental syndrome2Oct 6, 2022
Oligodontia-cancer predisposition syndrome2Oct 6, 2022
Opsismodysplasia1Oct 6, 2022
Optic atrophy 31Oct 6, 2022
Optic atrophy 93Oct 6, 2022
Ornithine carbamoyltransferase deficiency3Oct 6, 2022
Orofaciodigital syndrome I1Oct 6, 2022
Oromandibular-limb hypogenesis spectrum1Oct 6, 2022
Osteogenesis imperfecta type 61Oct 6, 2022
Osteogenesis imperfecta type I6Oct 6, 2022
Osteogenesis imperfecta type III1Oct 6, 2022
Osteogenesis imperfecta with normal sclerae, dominant form1Oct 6, 2022
Osteogenesis imperfecta, perinatal lethal3Oct 6, 2022
Ovarian dysgenesis 11Oct 6, 2022
Ovarian hyperstimulation syndrome1Oct 6, 2022
PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome4Oct 6, 2022
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome4Oct 6, 2022
Pachyonychia congenita 21Oct 6, 2022
Pallister-Hall syndrome1Oct 6, 2022
Pancreatic cancer, susceptibility to, 32Oct 6, 2022
Papillary renal cell carcinoma type 11Oct 6, 2022
Paragangliomas 13Oct 6, 2022
Paragangliomas 46Oct 6, 2022
Paragangliomas 52Oct 6, 2022
Paramyotonia congenita of Von Eulenburg11Oct 6, 2022
Parkinsonism-dystonia 3, childhood-onset2Oct 6, 2022
Paroxysmal nonkinesigenic dyskinesia 11Oct 6, 2022
Patterned macular dystrophy 14Oct 6, 2022
Pendred syndrome1Oct 6, 2022
Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome1Oct 6, 2022
Periventricular nodular heterotopia 81Oct 6, 2022
Periventricular nodular heterotopia 92Oct 6, 2022
Perlman syndrome1Oct 6, 2022
Permanent neonatal diabetes mellitus 11Oct 6, 2022
Peroxisome biogenesis disorder 2B1Oct 6, 2022
Peroxisome biogenesis disorder 5B2Oct 6, 2022
Perrault syndrome 42Oct 6, 2022
Peters plus syndrome1Oct 6, 2022
Peutz-Jeghers syndrome15Oct 6, 2022
Phelan-McDermid syndrome12Oct 6, 2022
Phenylketonuria5Oct 6, 2022
Pheochromocytoma6Oct 6, 2022
Pilarowski-Bjornsson syndrome1Oct 6, 2022
Pitt-Hopkins syndrome2Oct 6, 2022
Platelet-type bleeding disorder 161Oct 6, 2022
Pleuropulmonary blastoma3Oct 6, 2022
Poirier-Bienvenu neurodevelopmental syndrome2Oct 6, 2022
Polycystic kidney disease 28Oct 6, 2022
Polycystic kidney disease 47Oct 6, 2022
Polycystic kidney disease, adult type16Oct 6, 2022
Polydactyly, postaxial, type A11Oct 6, 2022
Polydactyly, postaxial, type A81Oct 6, 2022
Polyglucosan body myopathy type 21Oct 6, 2022
Pontocerebellar hypoplasia type 1B2Oct 6, 2022
Pontocerebellar hypoplasia type 2A2Oct 6, 2022
Pontocerebellar hypoplasia type 61Oct 6, 2022
Porencephaly 21Oct 6, 2022
Posterior column ataxia-retinitis pigmentosa syndrome2Oct 6, 2022
Potassium-aggravated myotonia2Oct 6, 2022
Premature ovarian failure 101Oct 6, 2022
Premature ovarian failure 31Oct 6, 2022
Premature ovarian failure 51Oct 6, 2022
Premature ovarian failure 81Oct 6, 2022
Primary ciliary dyskinesia 132Oct 6, 2022
Primary ciliary dyskinesia 71Oct 6, 2022
Primary erythromelalgia1Oct 6, 2022
Primary failure of tooth eruption1Oct 6, 2022
Primary hyperoxaluria, type II1Oct 6, 2022
Primrose syndrome1Oct 6, 2022
Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome2Oct 6, 2022
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 11Oct 6, 2022
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 31Oct 6, 2022
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 51Oct 6, 2022
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 15Oct 6, 2022
Progressive familial intrahepatic cholestasis type 11Oct 6, 2022
Progressive familial intrahepatic cholestasis type 21Oct 6, 2022
Progressive myositis ossificans1Oct 6, 2022
Progressive scapulohumeroperoneal distal myopathy1Oct 6, 2022
Progressive sclerosing poliodystrophy5Oct 6, 2022
Progressive spastic paraparesis2Dec 9, 2019
Proline dehydrogenase deficiency2Oct 6, 2022
Prostate cancer, hereditary, 91Oct 6, 2022
Protoporphyria, erythropoietic, 11Oct 6, 2022
Proximal myopathy with extrapyramidal signs3Oct 6, 2022
Pseudo-Hurler polydystrophy2Oct 6, 2022
Pseudohypoparathyroidism type I A1Oct 6, 2022
Pseudoxanthoma elasticum, forme fruste1Oct 6, 2022
Ptosis1Dec 9, 2019
Pulmonary hypertension, primary, 21Oct 6, 2022
Pulmonary hypertension, primary, 41Oct 6, 2022
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome1Oct 6, 2022
Pyridoxine-dependent epilepsy2Oct 6, 2022
Pyruvate dehydrogenase E1-alpha deficiency2Oct 6, 2022
Pyruvate dehydrogenase E3-binding protein deficiency1Oct 6, 2022
Radio-Tartaglia syndrome2Oct 6, 2022
Rauch-Steindl syndrome1Oct 6, 2022
Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome2Oct 6, 2022
Renal cysts and diabetes syndrome1Oct 6, 2022
Renal dysplasia, cystic, susceptibility to1Oct 6, 2022
Retinitis pigmentosa 13Oct 6, 2022
Retinitis pigmentosa 122Oct 6, 2022
Retinitis pigmentosa 141Oct 6, 2022
Retinitis pigmentosa 191Oct 6, 2022
Retinitis pigmentosa 259Oct 6, 2022
Retinitis pigmentosa 261Oct 6, 2022
Retinitis pigmentosa 31Oct 6, 2022
Retinitis pigmentosa 311Oct 6, 2022
Retinitis pigmentosa 331Oct 6, 2022
Retinitis pigmentosa 381Oct 6, 2022
Retinitis pigmentosa 41Oct 6, 2022
Retinitis pigmentosa 432Oct 6, 2022
Retinitis pigmentosa 562Oct 6, 2022
Retinitis pigmentosa 732Oct 6, 2022
Retinitis pigmentosa 791Oct 6, 2022
Retinitis pigmentosa 802Oct 6, 2022
Retinitis pigmentosa 861Oct 6, 2022
Retinitis pigmentosa 87 with choroidal involvement2Oct 6, 2022
Rett syndrome6Jul 17, 2023
Rippling muscle disease 22Oct 6, 2022
Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome1Oct 6, 2022
Rubinstein-Taybi syndrome due to CREBBP mutations2Oct 6, 2022
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency2Oct 6, 2022
SHOX-related short stature1Oct 6, 2022
SIN3A-related intellectual disability syndrome due to a point mutation3Oct 6, 2022
Sandhoff disease1Oct 6, 2022
Schaaf-Yang syndrome2Oct 6, 2022
Schizophrenia1Oct 6, 2022
Schwannomatosis 212Oct 6, 2022
Seizure1Dec 9, 2019
Seizures, benign familial infantile, 24Oct 6, 2022
Seizures, benign familial infantile, 34Oct 6, 2022
Seizures, benign familial neonatal, 16Oct 6, 2022
Senior-Loken syndrome 81Oct 6, 2022
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis1Oct 6, 2022
Septo-optic dysplasia sequence1Oct 6, 2022
Severe X-linked myotubular myopathy4Oct 6, 2022
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive1Oct 6, 2022
Severe early-childhood-onset retinal dystrophy17Oct 6, 2022
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome5Oct 6, 2022
Severe intellectual disability-progressive spastic diplegia syndrome2Oct 6, 2022
Severe myoclonic epilepsy in infancy13Oct 6, 2022
Short QT syndrome type 31Oct 6, 2022
Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans2Oct 6, 2022
Short stature due to partial GHR deficiency1Oct 6, 2022
Short stature with microcephaly and distinctive facies1Oct 6, 2022
Short-rib thoracic dysplasia 6 with or without polydactyly1Oct 6, 2022
Shprintzen-Goldberg syndrome4Oct 6, 2022
Sick sinus syndrome 2, autosomal dominant1Oct 6, 2022
Sick sinus syndrome 3, susceptibility to1Oct 6, 2022
Sifrim-Hitz-Weiss syndrome1Oct 6, 2022
Silver-Russell syndrome 31Oct 6, 2022
Simpson-Golabi-Behmel syndrome type 11Oct 6, 2022
Skeletal dysplasia, mild, with joint laxity and advanced bone age1Oct 6, 2022
Smith-Lemli-Opitz syndrome3Oct 6, 2022
Smith-Magenis syndrome1Oct 6, 2022
Snijders Blok-Campeau syndrome5Oct 6, 2022
Sotos syndrome10Oct 6, 2022
Spastic paraplegia, intellectual disability, nystagmus, and obesity1Oct 6, 2022
Spermatogenic failure 231Oct 6, 2022
Spermatogenic failure 31Oct 6, 2022
Spermatogenic failure 342Oct 6, 2022
Spermatogenic failure 81Oct 6, 2022
Spermatogenic failure 91Oct 6, 2022
Spinal muscular atrophy-progressive myoclonic epilepsy syndrome1Oct 6, 2022
Spinocerebellar ataxia 471Oct 6, 2022
Spinocerebellar ataxia type 111Oct 6, 2022
Spinocerebellar ataxia type 131Oct 6, 2022
Spinocerebellar ataxia type 141Oct 6, 2022
Spinocerebellar ataxia type 15/161Oct 6, 2022
Spinocerebellar ataxia type 281Oct 6, 2022
Spinocerebellar ataxia type 292Oct 6, 2022
Spinocerebellar ataxia type 421Oct 6, 2022
Spinocerebellar ataxia type 54Oct 6, 2022
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 23Oct 6, 2022
Split hand-foot malformation 41Oct 6, 2022
Spondyloepiphyseal dysplasia congenita1Oct 6, 2022
Spondyloperipheral dysplasia1Oct 6, 2022
Stickler syndrome type 16Oct 6, 2022
Stickler syndrome type 23Oct 6, 2022
Stickler syndrome, type I, nonsyndromic ocular1Oct 6, 2022
Stroke disorder1Dec 9, 2019
Stromme syndrome2Oct 6, 2022
Sulfite oxidase deficiency1Oct 6, 2022
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B1Oct 6, 2022
Susceptibility to mononeuropathy of the median nerve, mild1Oct 6, 2022
Syndromic X-linked intellectual disability 941Oct 6, 2022
Syndromic X-linked intellectual disability Claes-Jensen type3Oct 6, 2022
Syndromic X-linked intellectual disability Najm type1Oct 6, 2022
TNF receptor-associated periodic fever syndrome (TRAPS)3Oct 6, 2022
Tatton-Brown-Rahman overgrowth syndrome2Oct 6, 2022
Tay-Sachs disease7Oct 6, 2022
Telangiectasia, hereditary hemorrhagic, type 11Oct 6, 2022
Telangiectasia, hereditary hemorrhagic, type 23Oct 6, 2022
Thanatophoric dysplasia type 11Oct 6, 2022
Thrombocytopenia 41Oct 6, 2022
Thrombophilia due to protein C deficiency, autosomal dominant2Oct 6, 2022
Thrombophilia due to protein S deficiency, autosomal dominant1Oct 6, 2022
Timothy syndrome2Oct 6, 2022
Tooth agenesis, selective, 44Oct 6, 2022
Torsion dystonia 61Oct 6, 2022
Townes-Brocks syndrome 21Oct 6, 2022
Tremor, hereditary essential, 41Oct 6, 2022
Tuberous sclerosis 111Oct 6, 2022
Tuberous sclerosis 210Oct 6, 2022
Tumor predisposition syndrome 31Oct 6, 2022
Type 2 diabetes mellitus3Oct 6, 2022
Tyrosinase-negative oculocutaneous albinism11Oct 6, 2022
Tyrosinase-positive oculocutaneous albinism9Oct 6, 2022
Ulnar-mammary syndrome1Oct 6, 2022
Usher syndrome type 12Oct 6, 2022
Usher syndrome type 1D1Oct 6, 2022
Usher syndrome type 1F1Oct 6, 2022
Usher syndrome type 2A7Oct 6, 2022
VEXAS syndrome3Oct 6, 2022
Van Maldergem syndrome 12Oct 6, 2022
Vanishing white matter disease3Oct 6, 2022
Velocardiofacial syndrome1Oct 6, 2022
Ventricular septal defect 31Oct 6, 2022
Ververi-Brady syndrome1Oct 6, 2022
Very long chain acyl-CoA dehydrogenase deficiency1Oct 6, 2022
Visceral myopathy 21Oct 6, 2022
Vissers-Bodmer syndrome1Oct 6, 2022
Vitelliform macular dystrophy 25Oct 6, 2022
Vitelliform macular dystrophy 31Oct 6, 2022
Vitelliform macular dystrophy 51Oct 6, 2022
Von Hippel-Lindau syndrome2Oct 6, 2022
Waardenburg syndrome type 2E1Oct 6, 2022
Warburg micro syndrome 11Oct 6, 2022
Weaver syndrome1Oct 6, 2022
Weiss-kruszka syndrome2Oct 6, 2022
Werdnig-Hoffmann disease1Oct 6, 2022
Wieacker-Wolff syndrome1Oct 6, 2022
Wiedemann-Steiner syndrome6Oct 6, 2022
Wilson disease2Oct 6, 2022
Wiskott-Aldrich syndrome1Oct 6, 2022
Wolfram syndrome 15Oct 6, 2022
Wolfram-like syndrome3Oct 6, 2022
X-linked Alport syndrome7Oct 6, 2022
X-linked Emery-Dreifuss muscular dystrophy1Oct 6, 2022
X-linked agammaglobulinemia1Oct 6, 2022
X-linked central congenital hypothyroidism with late-onset testicular enlargement1Oct 6, 2022
X-linked complicated corpus callosum dysgenesis1Oct 6, 2022
X-linked cone-rod dystrophy 13Oct 6, 2022
X-linked intellectual disability Cabezas type2Oct 6, 2022
X-linked intellectual disability, Cantagrel type1Oct 6, 2022
X-linked intellectual disability, Stocco dos Santos type1Oct 6, 2022
X-linked intellectual disability, van Esch type2Oct 6, 2022
X-linked intellectual disability-cerebellar hypoplasia syndrome1Oct 6, 2022
X-linked intellectual disability-short stature-overweight syndrome1Oct 6, 2022
X-linked mixed hearing loss with perilymphatic gusher1Oct 6, 2022
X-linked myopathy with excessive autophagy1Oct 6, 2022
X-linked myopathy with postural muscle atrophy1Oct 6, 2022
Xeroderma pigmentosum group A1Oct 6, 2022
Xeroderma pigmentosum, group D1Oct 6, 2022
Xeroderma pigmentosum, group F2Oct 6, 2022
ZTTK syndrome1Oct 6, 2022

Testing in GTR

Disease nameNumber of tests
3-Methylglutaconic aciduria type 22 tests
4p partial monosomy syndrome1 test
5p partial monosomy syndrome1 test
7q11.23 microduplication syndrome1 test
ALG2-congenital disorder of glycosylation1 test
ALG3-congenital disorder of glycosylation1 test
ALG6-congenital disorder of glycosylation 1C1 test
Absence seizure1 test
Accelerated tumor formation, susceptibility to1 test
Achondroplasia2 tests
Actin accumulation myopathy1 test
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins1 test
Acute lymphoid leukemia1 test
Acyl-CoA dehydrogenase 9 deficiency1 test
Age related macular degeneration 11 test
Age related macular degeneration 71 test
Agenesis of the corpus callosum with peripheral neuropathy1 test
Aicardi Goutieres syndrome1 test
Aicardi-Goutieres syndrome 12 tests
Alagille syndrome due to a JAG1 point mutation1 test
Alexander disease2 tests
Alpha thalassemia-X-linked intellectual disability syndrome1 test
Alpha trait thalassemia1 test
Alpha-1-antitrypsin deficiency1 test
Alternating hemiplegia of childhood 11 test
Alternating hemiplegia of childhood 21 test
Alzheimer disease 31 test
Alzheimer disease 42 tests
Alzheimer disease type 11 test
Aminoglycoside-induced deafness1 test
Amyotrophic lateral sclerosis7 tests
Amyotrophic lateral sclerosis type 12 tests
Amyotrophic lateral sclerosis type 101 test
Amyotrophic lateral sclerosis type 111 test
Amyotrophic lateral sclerosis type 152 tests
Amyotrophic lateral sclerosis type 41 test
Amyotrophic lateral sclerosis type 61 test
Amyotrophic lateral sclerosis type 81 test
Amyotrophic lateral sclerosis type 91 test
Amyotrophic neuralgia1 test
Aneurysm-osteoarthritis syndrome1 test
Angelman syndrome2 tests
Aniridia 12 tests
Anophthalmia-microphthalmia syndrome3 tests
Anophthalmia/microphthalmia-esophageal atresia syndrome1 test
Anterior segment dysgenesis 31 test
Aortic aneurysm, familial thoracic 41 test
Aortic aneurysm, familial thoracic 62 tests
Arrhythmogenic right ventricular cardiomyopathy2 tests
Arthrogryposis, distal, type 1A2 tests
Ataxia with myoclonic epilepsy and presenile dementia1 test
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia1 test
Ataxia-telangiectasia syndrome1 test
Autosomal dominant Opitz G/BBB syndrome1 test
Autosomal dominant centronuclear myopathy18 tests
Autosomal dominant cerebellar ataxia, deafness and narcolepsy1 test
Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures1 test
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures1 test
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome4 tests
Autosomal dominant hypocalcemia 11 test
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)1 test
Autosomal dominant nocturnal frontal lobe epilepsy 51 test
Autosomal dominant nonsyndromic hearing loss 4A1 test
Autosomal dominant nonsyndromic hearing loss 62 tests
Autosomal dominant optic atrophy classic form2 tests
Autosomal dominant polycystic kidney disease1 test
Autosomal dominant slowed nerve conduction velocity1 test
Autosomal recessive DOPA responsive dystonia1 test
Autosomal recessive axonal neuropathy with neuromyotonia1 test
Autosomal recessive infantile epilepsy1 test
Autosomal recessive limb-girdle muscular dystrophy1 test
Autosomal recessive limb-girdle muscular dystrophy type 2A2 tests
Autosomal recessive limb-girdle muscular dystrophy type 2B1 test
Autosomal recessive limb-girdle muscular dystrophy type 2C1 test
Autosomal recessive limb-girdle muscular dystrophy type 2D2 tests
Autosomal recessive limb-girdle muscular dystrophy type 2E1 test
Autosomal recessive limb-girdle muscular dystrophy type 2F1 test
Autosomal recessive limb-girdle muscular dystrophy type 2G1 test
Autosomal recessive limb-girdle muscular dystrophy type 2I1 test
Autosomal recessive limb-girdle muscular dystrophy type 2L1 test
Autosomal recessive limb-girdle muscular dystrophy type 2Q1 test
Autosomal recessive optic atrophy, OPA7 type1 test
Autosomal recessive polycystic kidney disease1 test
Autosomal recessive pseudohypoaldosteronism type 11 test
Autosomal recessive spinocerebellar ataxia 101 test
Axenfeld-Rieger syndrome2 tests
Azorean disease1 test
BAP1-related tumor predisposition syndrome1 test
Bardet-Biedl syndrome1 test
Batten-Turner congenital myopathy1 test
Becker muscular dystrophy16 tests
Beckwith-Wiedemann syndrome1 test
Behavior disorder6 tests
Benign Rolandic epilepsy1 test
Benign neonatal seizures2 tests
Beta thalassemia intermedia1 test
Beta-thalassemia major1 test
Bethlem myopathy 21 test
Bilateral frontoparietal polymicrogyria1 test
Biotin-responsive basal ganglia disease1 test
Birt-Hogg-Dube syndrome1 test
Bosch-Boonstra-Schaaf optic atrophy syndrome1 test
Brain small vessel disease 1 with or without ocular anomalies5 tests
Breast and colorectal cancer, susceptibility to1 test
Breast and/or ovarian cancer1 test
Breast cancer 31 test
Breast cancer, susceptibility to1 test
Breast neoplasm3 tests
Breast-ovarian cancer, familial, susceptibility to, 19 tests
Breast-ovarian cancer, familial, susceptibility to, 29 tests
Breast-ovarian cancer, familial, susceptibility to, 31 test
Breast-ovarian cancer, familial, susceptibility to, 41 test
Bronchiectasis with or without elevated sweat chloride 12 tests
Brown-Vialetto-van Laere syndrome 11 test
Brown-Vialetto-van Laere syndrome 21 test
Brugada syndrome 52 tests
CARASIL syndrome1 test
CHRNA1-Related Congenital Myasthenic Syndrome1 test
Carcinoma of colon2 tests
Carcinoma of pancreas1 test
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 11 test
Cardiomyopathy3 tests
Cardiomyopathy, mitochondrial1 test
Cardiomyopathy-hypotonia-lactic acidosis syndrome1 test
Carney complex1 test
Carnitine acylcarnitine translocase deficiency1 test
Carnitine palmitoyl transferase II deficiency, myopathic form1 test
Carnitine palmitoyl transferase II deficiency, neonatal form1 test
Carnitine palmitoyl transferase II deficiency, severe infantile form2 tests
Cataract 1 multiple types1 test
Catecholaminergic polymorphic ventricular tachycardia 11 test
Caveolinopathy16 tests
Central core myopathy2 tests
Centronuclear myopathy1 test
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome1 test
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 11 test
Cerebral creatine deficiency syndrome1 test
Cerebral folate transport deficiency1 test
Channelopathy-associated congenital insensitivity to pain, autosomal recessive1 test
Charcot-Marie-Tooth Neuropathy Type 2H/2K1 test
Charcot-Marie-Tooth disease X-linked dominant 11 test
Charcot-Marie-Tooth disease X-linked recessive 51 test
Charcot-Marie-Tooth disease axonal type 2C1 test
Charcot-Marie-Tooth disease axonal type 2F1 test
Charcot-Marie-Tooth disease axonal type 2L1 test
Charcot-Marie-Tooth disease axonal type 2N1 test
Charcot-Marie-Tooth disease axonal type 2O1 test
Charcot-Marie-Tooth disease axonal type 2P1 test
Charcot-Marie-Tooth disease dominant intermediate B1 test
Charcot-Marie-Tooth disease dominant intermediate C1 test
Charcot-Marie-Tooth disease dominant intermediate D2 tests
Charcot-Marie-Tooth disease dominant intermediate E1 test
Charcot-Marie-Tooth disease recessive intermediate B1 test
Charcot-Marie-Tooth disease type 1B2 tests
Charcot-Marie-Tooth disease type 1C1 test
Charcot-Marie-Tooth disease type 1D2 tests
Charcot-Marie-Tooth disease type 1E2 tests
Charcot-Marie-Tooth disease type 1F1 test
Charcot-Marie-Tooth disease type 2A21 test
Charcot-Marie-Tooth disease type 2B1 test
Charcot-Marie-Tooth disease type 2B13 tests
Charcot-Marie-Tooth disease type 2B21 test
Charcot-Marie-Tooth disease type 2E1 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 4E3 tests
Charcot-Marie-Tooth disease type 4F1 test
Charcot-Marie-Tooth disease type 4H1 test
Charcot-Marie-Tooth disease type 4J1 test
Charcot-Marie-Tooth disease, type IA2 tests
Chorea-acanthocytosis1 test
Christianson syndrome1 test
Chromosome 22q11.2 microduplication syndrome1 test
Citrullinemia type I1 test
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency1 test
Coenzyme Q10 deficiency1 test
Coenzyme Q10 deficiency, primary, 16 tests
Coffin-Lowry syndrome1 test
Coffin-Siris syndrome 11 test
Collagen 6-related myopathy1 test
Colobomatous microphthalmia-rhizomelic dysplasia syndrome1 test
Colorectal cancer1 test
Colorectal cancer, hereditary nonpolyposis, type 21 test
Colorectal cancer, susceptibility to, 101 test
Colorectal cancer, susceptibility to, 121 test
Combined immunodeficiency due to STIM1 deficiency1 test
Combined oxidative phosphorylation defect type 21 test
Combined oxidative phosphorylation defect type 41 test
Combined oxidative phosphorylation defect type 71 test
Combined oxidative phosphorylation defect type 81 test
Complete trisomy 13 syndrome1 test
Complete trisomy 21 syndrome1 test
Congenital aniridia1 test
Congenital bilateral aplasia of vas deferens from CFTR mutation2 tests
Congenital cataracts-facial dysmorphism-neuropathy syndrome1 test
Congenital central hypoventilation1 test
Congenital generalized lipodystrophy1 test
Congenital generalized lipodystrophy type 41 test
Congenital multicore myopathy with external ophthalmoplegia1 test
Congenital muscular dystrophy7 tests
Congenital muscular dystrophy due to LMNA mutation2 tests
Congenital muscular dystrophy due to partial LAMA2 deficiency1 test
Congenital myasthenic syndrome11 tests
Congenital myasthenic syndrome 102 tests
Congenital myasthenic syndrome 122 tests
Congenital myasthenic syndrome 131 test
Congenital myasthenic syndrome 161 test
Congenital myasthenic syndrome 4C6 tests
Congenital myasthenic syndrome 51 test
Congenital myopathy 232 tests
Congenital myopathy 4B, autosomal recessive1 test
Congenital myopathy with fiber type disproportion18 tests
Congenital myotonia, autosomal dominant form4 tests
Congenital myotonia, autosomal recessive form1 test
Congenital sensory neuropathy with selective loss of small myelinated fibers1 test
Cornelia de Lange syndrome 11 test
Cornelia de Lange syndrome 31 test
Cornelia de Lange syndrome 41 test
Cornelia de Lange syndrome 51 test
Corpus callosum agenesis-abnormal genitalia syndrome1 test
Cowden syndrome1 test
Creatine transporter deficiency2 tests
Cutaneous polyarteritis nodosa1 test
Cutis laxa, X-linked1 test
Cutis laxa, autosomal recessive, type 1A1 test
Cystic fibrosis3 tests
DPAGT1-congenital disorder of glycosylation1 test
Danon disease1 test
De Lange syndrome1 test
Deficiency of 3-hydroxyacyl-CoA dehydrogenase1 test
Deficiency of butyryl-CoA dehydrogenase1 test
Deficiency of guanidinoacetate methyltransferase1 test
Dejerine-Sottas disease3 tests
Dentatorubral-pallidoluysian atrophy1 test
Developmental and epileptic encephalopathy 941 test
Developmental and epileptic encephalopathy, 16 tests
Developmental and epileptic encephalopathy, 111 test
Developmental and epileptic encephalopathy, 141 test
Developmental and epileptic encephalopathy, 21 test
Developmental and epileptic encephalopathy, 231 test
Developmental and epileptic encephalopathy, 241 test
Developmental and epileptic encephalopathy, 415 tests
Developmental and epileptic encephalopathy, 914 tests
Diabetes-deafness syndrome maternally transmitted1 test
Dilated cardiomyopathy 1A4 tests
Dilated cardiomyopathy 1C1 test
Dilated cardiomyopathy 1HH1 test
Dilated cardiomyopathy 1L1 test
Dilated cardiomyopathy 1S1 test
Dilated cardiomyopathy 3B2 tests
Disorder of cardiovascular system1 test
Disorder of fatty acid metabolism1 test
Distal arthrogryposis type 2B12 tests
Distal myopathy with anterior tibial onset1 test
Distal myopathy with posterior leg and anterior hand involvement1 test
Drash syndrome1 test
Duchenne muscular dystrophy16 tests
Dysmorphic features6 tests
Dyssynergia1 test
Dystonia 121 test
Dystonia 52 tests
Dystonic disorder2 tests
Early myoclonic encephalopathy1 test
Early-onset generalized limb-onset dystonia1 test
Ectopia lentis 1, isolated, autosomal dominant3 tests
Ectopia lentis 2, isolated, autosomal recessive3 tests
Ehlers-Danlos syndrome, classic type1 test
Ehlers-Danlos syndrome, type 41 test
Eichsfeld type congenital muscular dystrophy3 tests
Emery-Dreifuss muscular dystrophy4 tests
Emery-Dreifuss muscular dystrophy 2, autosomal dominant3 tests
Encephalopathy due to GLUT1 deficiency10 tests
Epilepsy, childhood absence 21 test
Epilepsy, childhood absence, susceptibility to, 12 tests
Epilepsy, childhood absence, susceptibility to, 61 test
Epilepsy, familial adult myoclonic, 11 test
Epilepsy, idiopathic generalized, susceptibility to, 131 test
Epilepsy, idiopathic generalized, susceptibility to, 81 test
Epilepsy, juvenile myoclonic 71 test
Epilepsy-telangiectasia syndrome1 test
Episodic ataxia type 11 test
Episodic ataxia type 22 tests
Episodic kinesigenic dyskinesia 11 test
Episodic pain syndrome, familial, 21 test
Ethylmalonic encephalopathy1 test
Fabry disease1 test
Facioscapulohumeral muscular dystrophy1 test
Facioscapulohumeral muscular dystrophy 22 tests
Familial acute necrotizing encephalopathy1 test
Familial adenomatous polyposis 11 test
Familial adenomatous polyposis 21 test
Familial amyloid neuropathy1 test
Familial cancer of breast6 tests
Familial colorectal cancer4 tests
Familial episodic pain syndrome with predominantly lower limb involvement1 test
Familial episodic pain syndrome with predominantly upper body involvement1 test
Familial hemiplegic migraine1 test
Familial hypocalciuric hypercalcemia 11 test
Familial infantile myasthenia1 test
Familial meningioma1 test
Familial multiple polyposis syndrome2 tests
Familial pancreatic carcinoma1 test
Familial thoracic aortic aneurysm and aortic dissection1 test
Fatal familial insomnia1 test
Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 31 test
Febrile seizures, familial, 115 tests
Febrile seizures, familial, 81 test
Focal segmental glomerulosclerosis 13 tests
Focal segmental glomerulosclerosis 51 test
Foveal hypoplasia 11 test
Fragile X syndrome2 tests
Fragile X-associated tremor/ataxia syndrome1 test
Friedreich ataxia 21 test
Frontotemporal dementia1 test
Frontotemporal dementia and/or amyotrophic lateral sclerosis 21 test
GARS-Associated Axonal Neuropathy1 test
GLUT1 deficiency syndrome3 tests
GNE myopathy1 test
Gastrointestinal stromal tumor2 tests
Generalized epilepsy1 test
Generalized epilepsy with febrile seizures plus, type 11 test
Generalized epilepsy with febrile seizures plus, type 215 tests
Generalized epilepsy with febrile seizures plus, type 71 test
Generalized epilepsy with febrile seizures plus, type 91 test
Generalized juvenile polyposis/juvenile polyposis coli2 tests
Gerstmann-Straussler-Scheinker syndrome1 test
Giant axonal neuropathy 11 test
Gilbert syndrome1 test
Glaucoma 3, primary congenital, D1 test
Glaucoma 3, primary infantile, B1 test
Glaucoma 3A3 tests
Global developmental delay6 tests
Glycogen storage disease, type II1 test
Glycogen storage disease, type V1 test
Gorlin syndrome1 test
Hb SS disease1 test
Hearing loss, sensorineural, autosomal-mitochondrial type1 test
Hemochromatosis type 11 test
Hemoglobin Bart hydrops syndrome1 test
Hemoglobin H disease1 test
Hemoglobin H disease, nondeletional1 test
Hemoglobinopathy2 tests
Hemorrhage, intracerebral, susceptibility to1 test
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 11 test
Hereditary breast ovarian cancer syndrome2 tests
Hereditary cancer-predisposing syndrome8 tests
Hereditary diffuse gastric adenocarcinoma5 tests
Hereditary diffuse leukoencephalopathy with spheroids1 test
Hereditary disease1 test
Hereditary episodic ataxia1 test
Hereditary insensitivity to pain with anhidrosis1 test
Hereditary leiomyomatosis and renal cell cancer1 test
Hereditary liability to pressure palsies2 tests
Hereditary motor and sensory neuropathy with optic atrophy1 test
Hereditary myopathy with lactic acidosis due to ISCU deficiency1 test
Hereditary pancreatitis6 tests
Hereditary sensory and autonomic neuropathy type 11 test
Hereditary sensory and autonomic neuropathy type 21 test
Hereditary sensory and autonomic neuropathy type 71 test
Hereditary sensory and autonomic neuropathy with spastic paraplegia1 test
Hereditary sensory neuropathy-deafness-dementia syndrome1 test
Hereditary spastic paraplegia2 tests
Hereditary spastic paraplegia 111 test
Hereditary spastic paraplegia 172 tests
Hereditary spastic paraplegia 301 test
Hereditary spastic paraplegia 3A1 test
Hereditary spastic paraplegia 41 test
Hereditary spastic paraplegia 531 test
Hereditary spastic paraplegia 551 test
Hereditary spastic paraplegia 5A1 test
Hereditary spastic paraplegia 71 test
Holoprosencephaly 12 tests
Holoprosencephaly 22 tests
Huntington disease1 test
Huntington disease-like 11 test
Hutchinson-Gilford syndrome1 test
Hypercholesterolemia, autosomal dominant, type B1 test
Hyperekplexia1 test
Hyperekplexia 11 test
Hyperinsulinemic hypoglycemia, familial, 41 test
Hyperkalemic periodic paralysis1 test
Hypertrophic cardiomyopathy 13 tests
Hypertrophic cardiomyopathy 101 test
Hypertrophic cardiomyopathy 251 test
Hypochondroplasia1 test
Hypokalemic periodic paralysis, type 11 test
Hypokalemic periodic paralysis, type 21 test
Hypomyelination and Congenital Cataract1 test
IMAGe syndrome1 test
Idiopathic generalized epilepsy18 tests
Inborn mitochondrial myopathy12 tests
Infantile convulsions and choreoathetosis1 test
Infantile liver failure syndrome 21 test
Infantile onset spinocerebellar ataxia1 test
Infantile seizures1 test
Infantile-onset X-linked spinal muscular atrophy1 test
Inherited Creutzfeldt-Jakob disease1 test
Intellectual disability6 tests
Intellectual disability, X-linked 11 test
Intellectual disability, X-linked, with or without seizures, arx-related2 tests
Intellectual disability, autosomal dominant 131 test
Intellectual disability, autosomal dominant 161 test
Intellectual disability, autosomal dominant 201 test
Intellectual disability, autosomal dominant 91 test
Intellectual disability-hypotonic facies syndrome, X-linked, 12 tests
Irido-corneo-trabecular dysgenesis3 tests
Isolated microphthalmia 31 test
Isolated microphthalmia 41 test
Juvenile myoclonic epilepsy4 tests
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke3 tests
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome1 test
KCNQ2-related disorder1 test
Kabuki syndrome 11 test
Kabuki syndrome 21 test
Kearns-Sayre syndrome2 tests
Kennedy disease1 test
Keratoconus 12 tests
Klippel-Feil syndrome 1, autosomal dominant1 test
Knobloch syndrome1 test
Kuru, susceptibility to1 test
LAMP2-Related Cardiomyopathy1 test
Lafora disease2 tests
Landau-Kleffner syndrome1 test
Learning difficulties6 tests
Leber congenital amaurosis 171 test
Leber optic atrophy1 test
Legius syndrome1 test
Leigh Syndrome (nuclear DNA mutation)1 test
Leigh syndrome15 tests
Lethal infantile mitochondrial myopathy5 tests
Leukemia, acute lymphoblastic, susceptibility to, 31 test
Leukocyte adhesion deficiency type II1 test
Leukodystrophy1 test
Leukoencephalopathy1 test
Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome1 test
Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome1 test
Li-Fraumeni syndrome9 tests
Li-Fraumeni syndrome 28 tests
Limb-girdle muscular dystrophy7 tests
Lissencephaly due to LIS1 mutation3 tests
Lissencephaly type 1 due to doublecortin gene mutation2 tests
Loeys-Dietz syndrome 41 test
Long QT syndrome 12 tests
Long QT syndrome 21 test
Long QT syndrome 31 test
Lynch syndrome11 tests
Lynch syndrome 11 test
MEGF10-related myopathy1 test
MERRF syndrome1 test
MERRF/MELAS overlap syndrome1 test
MPI-congenital disorder of glycosylation1 test
MTHFR THERMOLABILE POLYMORPHISM1 test
MYH7-related skeletal myopathy1 test
Malan overgrowth syndrome1 test
Malignant hyperthermia of anesthesia1 test
Malignant hyperthermia, susceptibility to, 11 test
Mandibular hypoplasia-deafness-progeroid syndrome1 test
Marfan syndrome3 tests
Marshall-Smith syndrome1 test
Maturity-onset diabetes of the young type 21 test
McLeod neuroacanthocytosis syndrome1 test
Medium-chain acyl-coenzyme A dehydrogenase deficiency2 tests
Megaconial type congenital muscular dystrophy1 test
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 11 test
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness1 test
Melanoma, cutaneous malignant, susceptibility to, 21 test
Menkes kinky-hair syndrome1 test
Merosin deficient congenital muscular dystrophy2 tests
Microcephaly, normal intelligence and immunodeficiency1 test
Microphthalmia, isolated, with coloboma 61 test
Microphthalmia, syndromic 11 test
Migraine14 tests
Migraine, familial hemiplegic, 11 test
Migraine, familial hemiplegic, 21 test
Migraine, familial hemiplegic, 314 tests
Mismatch repair cancer syndrome 14 tests
Mitochondrial DNA Deletion Syndromes2 tests
Mitochondrial DNA depletion syndrome 13 tests
Mitochondrial DNA depletion syndrome 111 test
Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)2 tests
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)1 test
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)1 test
Mitochondrial DNA depletion syndrome 8a1 test
Mitochondrial DNA depletion syndrome 92 tests
Mitochondrial DNA depletion syndrome, encephalomyopathic form2 tests
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria1 test
Mitochondrial DNA depletion syndrome, myopathic form1 test
Mitochondrial DNA-Associated Leigh Syndrome and NARP1 test
Mitochondrial complex I deficiency3 tests
Mitochondrial complex II deficiency, nuclear type 13 tests
Mitochondrial complex III deficiency nuclear type 14 tests
Mitochondrial complex III deficiency nuclear type 21 test
Mitochondrial complex IV deficiency, nuclear type 13 tests
Mitochondrial complex V (ATP synthase) deficiency nuclear type 21 test
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 11 test
Mitochondrial disease32 tests
Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency1 test
Mitochondrial myopathy with diabetes1 test
Mitochondrial non-syndromic sensorineural hearing loss4 tests
Mitochondrial trifunctional protein deficiency2 tests
Miyoshi muscular dystrophy 11 test
Miyoshi muscular dystrophy 31 test
Motor developmental delay due to 14q32.2 paternally expressed gene defect1 test
Mowat-Wilson syndrome1 test
Moyamoya disease 11 test
Moyamoya disease 51 test
Muenke syndrome1 test
Multiminicore myopathy2 tests
Multiple acyl-CoA dehydrogenase deficiency2 tests
Multiple congenital anomalies6 tests
Multiple endocrine neoplasia type 2A3 tests
Multiple endocrine neoplasia, type 14 tests
Multiple endocrine neoplasia, type 21 test
Multisystemic smooth muscle dysfunction syndrome1 test
Muscle AMP deaminase deficiency1 test
Muscular dystrophy, limb-girdle, autosomal dominant3 tests
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 41 test
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A21 test
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 111 test
Muscular dystrophy-dystroglycanopathy type B52 tests
Myasthenic syndrome, congenital, 1B, fast-channel2 tests
Myasthenic syndrome, slow-channel congenital2 tests
Myoclonic dystonia 111 test
Myofibrillar myopathy6 tests
Myofibrillar myopathy 21 test
Myofibrillar myopathy 31 test
Myofibrillar myopathy 41 test
Myofibrillar myopathy 51 test
Myofibrillar myopathy 61 test
Myoglobinuria, acute recurrent, autosomal recessive1 test
Myoglobinuria, recurrent1 test
Myopathy18 tests
Myopathy, centronuclear, 21 test
Myopathy, lactic acidosis, and sideroblastic anemia 12 tests
Myopathy, lactic acidosis, and sideroblastic anemia 21 test
Myopathy, proximal, and ophthalmoplegia1 test
Myopathy, tubular aggregate, 11 test
Myosin storage myopathy1 test
Myositis disease1 test
Myotonia fluctuans3 tests
Myotonic dystrophy type 21 test
Nemaline myopathy8 tests
Nemaline myopathy 21 test
Nemaline myopathy 51 test
Nemaline myopathy 61 test
Nemaline myopathy 78 tests
Nemaline myopathy 81 test
Nemaline myopathy 91 test
Neonatal severe primary hyperparathyroidism1 test
Neurodegeneration with brain iron accumulation1 test
Neuronal ceroid lipofuscinosis 11 test
Neuronopathy, distal hereditary motor, autosomal dominant 11 test
Neuronopathy, distal hereditary motor, type 2A1 test
Neuronopathy, distal hereditary motor, type 2B1 test
Neuronopathy, distal hereditary motor, type 2C1 test
Neuronopathy, distal hereditary motor, type 5A2 tests
Neuronopathy, distal hereditary motor, type 7B1 test
Neuropathy, hereditary sensory and autonomic, type 1C1 test
Neuropathy, hereditary sensory and autonomic, type 2A1 test
Neuropathy, hereditary sensory and autonomic, type 2B1 test
Neuropathy, hereditary sensory, type 1D1 test
Neuropathy, hereditary sensory, type 2C1 test
Neutral lipid storage myopathy1 test
Nicolaides-Baraitser syndrome1 test
Non-syndromic X-linked intellectual disability1 test
Nonpapillary renal cell carcinoma1 test
Noonan syndrome2 tests
Noonan syndrome 11 test
Noonan syndrome 31 test
Noonan syndrome 41 test
Nystagmus 1, congenital, X-linked1 test
Ocular albinism, type I1 test
Oculocutaneous albinism type 1B1 test
Oculocutaneous albinism type 41 test
Oculopharyngeal muscular dystrophy1 test
Oculopharyngodistal myopathy1 test
Oligodontia-cancer predisposition syndrome1 test
Optic atrophy1 test
Optic atrophy 31 test
Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy3 tests
Ovarian cancer1 test
PHGDH deficiency1 test
POLG-related disorder17 tests
PTEN hamartoma tumor syndrome2 tests
Pancreatic cancer, susceptibility to, 11 test
Papillary renal cell carcinoma type 11 test
Paragangliomas 11 test
Paragangliomas 31 test
Paragangliomas 41 test
Paramyotonia congenita of Von Eulenburg1 test
Paroxysmal extreme pain disorder1 test
Partial deletion of the long arm of chromosome 141 test
Partington syndrome1 test
Pearson syndrome2 tests
Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome1 test
Periventricular heterotopia with microcephaly, autosomal recessive1 test
Perry syndrome1 test
Peters plus syndrome1 test
Peutz-Jeghers syndrome4 tests
Pitt-Hopkins syndrome1 test
Pituitary hormone deficiency, combined, 61 test
Polycystic kidney disease 22 tests
Polycystic kidney disease, adult type2 tests
Pontocerebellar hypoplasia type 1A1 test
Pontocerebellar hypoplasia type 21 test
Pontocerebellar hypoplasia type 2B1 test
Pontocerebellar hypoplasia type 2C1 test
Pontocerebellar hypoplasia type 41 test
Porencephaly 21 test
Porencephaly-microcephaly-bilateral congenital cataract syndrome1 test
Porphyria1 test
Potassium-aggravated myotonia1 test
Prader-Willi syndrome1 test
Prader-Willi-like syndrome1 test
Premature ovarian failure 11 test
Primary ciliary dyskinesia 291 test
Primary dilated cardiomyopathy6 tests
Primary erythromelalgia1 test
Primary familial hypertrophic cardiomyopathy2 tests
Progressive external ophthalmoplegia3 tests
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 13 tests
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 24 tests
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 32 tests
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 41 test
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 51 test
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 12 tests
Progressive familial intrahepatic cholestasis type 21 test
Pseudohypoaldosteronism type 2C1 test
Pulmonary hypertension, primary, 11 test
Pulmonary hypertension, primary, 21 test
Pyridoxal phosphate-responsive seizures1 test
Pyridoxine-dependent epilepsy1 test
Pyruvate dehydrogenase E1-alpha deficiency1 test
Pyruvate dehydrogenase E3-binding protein deficiency1 test
Pyruvate dehydrogenase complex deficiency2 tests
Qualitative or quantitative defects of dysferlin1 test
Qualitative or quantitative defects of dystrophin1 test
RASopathy1 test
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations1 test
Rett syndrome11 tests
Rett syndrome, congenital variant15 tests
Rhabdoid tumor predisposition syndrome 11 test
Rhabdoid tumor predisposition syndrome 21 test
Rippling muscle disease 21 test
Russell-Silver syndrome2 tests
Sarcotubular myopathy1 test
Schizencephaly1 test
Schwannomatosis 11 test
Schwannomatosis 21 test
Seizure1 test
Seizures, benign familial infantile, 21 test
Seizures, benign familial neonatal, 11 test
Seizures, benign familial neonatal, 22 tests
Sengers syndrome1 test
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis21 tests
Severe X-linked myotubular myopathy1 test
Severe myoclonic epilepsy in infancy15 tests
Severe neonatal-onset encephalopathy with microcephaly8 tests
Sickle cell-Hemoglobin O Arab disease1 test
Sickle cell-beta-thalassemia2 tests
Sickle cell-hemoglobin C disease1 test
Sickle cell-hemoglobin D disease1 test
Silver-Russell syndrome 12 tests
Silver-Russell syndrome due to an imprinting defect of 11p151 test
Smith-Magenis syndrome1 test
Sotos syndrome2 tests
Spermatogenic failure, Y-linked, 21 test
Spinal muscular atrophy2 tests
Spinal muscular atrophy, type II1 test
Spinocerebellar ataxia 71 test
Spinocerebellar ataxia type 11 test
Spinocerebellar ataxia type 131 test
Spinocerebellar ataxia type 171 test
Spinocerebellar ataxia type 181 test
Spinocerebellar ataxia type 21 test
Spinocerebellar ataxia type 61 test
Spinocerebellar ataxia type 81 test
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 21 test
Spongiform encephalopathy with neuropsychiatric features1 test
Steinert myotonic dystrophy syndrome1 test
Stickler syndrome type 12 tests
Stickler syndrome type 21 test
Stuve-Wiedemann syndrome1 test
Syndromic X-linked intellectual disability Lubs type9 tests
Syndromic intellectual disability1 test
Telangiectasia, hereditary hemorrhagic, type 11 test
Telangiectasia, hereditary hemorrhagic, type 21 test
Telangiectasia, hereditary hemorrhagic, type 51 test
Thalassemia2 tests
Thalassemia intermedia1 test
Thalassemia minor1 test
Thanatophoric dysplasia type 12 tests
Thrombophilia due to activated protein C resistance1 test
Thrombophilia due to thrombin defect1 test
Torsion dystonia 61 test
Trisomy 181 test
Tumor predisposition syndrome 31 test
Ullrich congenital muscular dystrophy 21 test
Unverricht-Lundborg syndrome1 test
Usher syndrome type 3B1 test
Uveal coloboma-cleft lip and palate-intellectual disability1 test
Vanishing white matter disease1 test
Velocardiofacial syndrome1 test
Very long chain acyl-CoA dehydrogenase deficiency1 test
Visceral myopathy 11 test
Von Hippel-Lindau syndrome1 test
Warburg micro syndrome1 test
Weaver syndrome2 tests
Weill-Marchesani 4 syndrome, recessive1 test
Weill-Marchesani syndrome 11 test
Weill-Marchesani syndrome 31 test
Werdnig-Hoffmann disease2 tests
West syndrome14 tests
Wiedemann-Steiner syndrome1 test
Williams syndrome1 test
Wilms tumor 11 test
Wolfram syndrome 12 tests
Wolfram syndrome 21 test
Wolfram-like syndrome1 test
X inactivation, familial skewed, 11 test
X inactivation, familial skewed, 21 test
X-linked Emery-Dreifuss muscular dystrophy2 tests
X-linked Opitz G/BBB syndrome1 test
X-linked agammaglobulinemia1 test
X-linked distal spinal muscular atrophy type 31 test
X-linked ichthyosis with steryl-sulfatase deficiency1 test
X-linked intellectual disability Cabezas type1 test
X-linked intellectual disability-psychosis-macroorchidism syndrome12 tests
X-linked lissencephaly with abnormal genitalia1 test
X-linked myopathy with postural muscle atrophy2 tests
XK aprosencephaly1 test
Y chromosome-related disorders1 test
alpha Thalassemia1 test
beta Thalassemia1 test