Genetic Services Laboratory (University of Chicago)

General information

Genetic Services Laboratory
University of Chicago
5841 S. Maryland Ave. Rm G701, MC0077
Chicago
Illinois
United States - 60637-6726
http://dnatesting.uchicago.edu/
Organization ID: 1238

Personnel

View this laboratory in GTR

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 15337

Gene

GeneSubmissionsLast Updated
A2ML11Jul 5, 2017
AAAS3Jul 5, 2017
ABCA131Sep 15, 2015
ABCB112Jul 5, 2017
ABCC62Jul 5, 2017
ABCC893Mar 6, 2020
ABCC91Jul 5, 2017
ABCD12Jul 5, 2017
ABCG53Jul 5, 2017
ABCG82Jul 5, 2017
ABHD123Jun 27, 2014
ACADVL1Jul 5, 2017
ACD7Mar 6, 2020
ACO22Jun 27, 2014
ACSL49Oct 4, 2017
ACTA19Jul 5, 2017
ACTB8Mar 6, 2020
ACTG127Mar 6, 2020
ADA1Jul 5, 2017
ADAMTS131Jul 5, 2017
ADAT36Jul 5, 2017
ADGRG147Oct 4, 2017
ADGRV191Jul 5, 2017
ADNP6Mar 6, 2020
ADSL6Jul 5, 2017
AFF221Oct 4, 2017
AFF42Jul 5, 2017
AFG3L23Sep 15, 2015
AGMO3Jul 5, 2017
AGPAT27Mar 6, 2020
AGPS4Sep 11, 2014
AGRN46Oct 4, 2017
AGTR21Apr 30, 2014
AHI112Jul 5, 2017
AIRE15Jul 5, 2017
AKR1C21Jul 5, 2017
AKT11Jul 5, 2017
AKT27Mar 6, 2020
ALAS23Mar 6, 2020
ALDH5A110Jul 5, 2017
ALDH7A110Mar 6, 2020
ALG132Jul 5, 2017
ALG142Jul 5, 2017
ALG618Jul 5, 2017
ALMS126Jul 5, 2017
ALPL3Jul 5, 2017
ALX12Jul 5, 2017
ALX31Sep 15, 2015
ALX41Jul 5, 2017
AMACR6Sep 15, 2015
AMH2Jul 5, 2017
AMHR22Jul 5, 2017
AMPD23Jul 5, 2017
ANGPT29Jul 5, 2017
ANK3117Mar 6, 2020
ANKRD1110Oct 4, 2017
ANKRD2617Mar 6, 2020
ANO1010Jul 5, 2017
ANO59Jul 5, 2017
ANOS11Jul 5, 2017
AOPEP6Mar 6, 2020
AP1S24Jul 5, 2017
AP2S11Jul 5, 2017
AP3B111Jul 5, 2017
AP4B128Mar 6, 2020
AP4B1-AS118Mar 6, 2020
AP4E133Oct 4, 2017
AP4M122Oct 4, 2017
AP4S19Oct 4, 2017
AP5Z19Sep 15, 2015
APBA21Jul 5, 2017
APC4Mar 6, 2020
APOB17Mar 6, 2020
APTX2Jul 5, 2017
AR18Mar 6, 2020
ARFGEF12Jul 5, 2017
ARFGEF1-DT3Jul 5, 2017
ARFGEF277Oct 4, 2017
ARHGEF153Jul 5, 2017
ARHGEF615Jul 5, 2017
ARHGEF98Mar 6, 2020
ARID1A52Mar 6, 2020
ARID1B126Mar 6, 2020
ARL13B3Jul 5, 2017
ARSA3Jul 5, 2017
ARSL12Sep 11, 2014
ARX63Oct 4, 2017
ASL3Sep 15, 2015
ASNS5Mar 6, 2020
ASPM248Mar 6, 2020
ASS13Jul 5, 2017
ASTN22Jul 5, 2017
ASXL318Mar 6, 2020
ATL12Jun 27, 2014
ATM59Mar 6, 2020
ATN18Mar 6, 2020
ATP13A220Oct 4, 2017
ATP1A211Jul 5, 2017
ATP1A313Jul 5, 2017
ATP6AP24Jun 27, 2014
ATP6V0A26Mar 6, 2020
ATP7A105Jul 5, 2017
ATP7B68Mar 6, 2020
ATP8A24Sep 15, 2015
ATR68Mar 6, 2020
ATRX42Mar 6, 2020
ATXN115Sep 15, 2015
ATXN25Sep 15, 2015
ATXN39Sep 15, 2015
ATXN74Jun 27, 2014
AUH1Jun 27, 2014
AXIN21Jul 5, 2017
B3GALNT24Jul 5, 2017
B3GLCT2Jul 5, 2017
B4GAT12Jul 5, 2017
B9D12Jul 5, 2017
B9D21Jul 5, 2017
BAP13Jul 5, 2017
BARD11Jul 5, 2017
BBS17Jul 5, 2017
BBS1010Mar 6, 2020
BBS125Mar 6, 2020
BBS22Jul 5, 2017
BBS43Jul 5, 2017
BBS53Mar 6, 2020
BBS73Jul 5, 2017
BBS910Mar 6, 2020
BCKDHA5Jul 5, 2017
BCKDHB1Sep 15, 2015
BCKDK6Jul 5, 2017
BCOR22Oct 4, 2017
BICD21Sep 15, 2015
BIN120Sep 15, 2015
BIVM-ERCC56Sep 15, 2015
BLK11Mar 6, 2020
BLM22Mar 6, 2020
BLOC1S33Oct 4, 2017
BLOC1S61Jul 5, 2017
BMP41Jul 5, 2017
BMPR1A2Jul 5, 2017
BRAT14Jul 5, 2017
BRCA140Mar 6, 2020
BRCA272Mar 6, 2020
BRIP123Mar 6, 2020
BRWD315Oct 4, 2017
BSCL27Oct 4, 2017
BTD6Oct 4, 2017
BUB1B2Jul 5, 2017
C11orf6514Mar 6, 2020
C12orf291Jun 27, 2014
C12orf431Mar 6, 2020
C12orf578Jul 5, 2017
C17orf1075Jun 27, 2014
C19orf127Jul 5, 2017
C1QTNF3-AMACR6Sep 15, 2015
CA86Mar 6, 2020
CACNA1A34Mar 6, 2020
CACNA1G1Jul 5, 2017
CACNA2D21Jul 5, 2017
CACNB46Mar 6, 2020
CACNG22Jul 5, 2017
CAMTA16Jul 5, 2017
CAPN319Sep 15, 2015
CARD113Jul 5, 2017
CASD11Jul 5, 2017
CASK43Mar 6, 2020
CASR1Jul 5, 2017
CAV12Jun 27, 2014
CAV35Jun 27, 2014
CAVIN14Jul 5, 2017
CBL7Jul 5, 2017
CBR41Sep 15, 2015
CC2D1A53Oct 4, 2017
CC2D2A38Mar 6, 2020
CCDC2219Mar 6, 2020
CCDC401Apr 30, 2014
CCDC788Oct 4, 2017
CCDC88C35Oct 4, 2017
CCNF1Mar 6, 2020
CDC611Jul 5, 2017
CDH19Jul 5, 2017
CDH1542Mar 6, 2020
CDH231Jul 5, 2017
CDK52Jul 5, 2017
CDK5RAP288Mar 6, 2020
CDK65Oct 4, 2017
CDKL559Mar 6, 2020
CDKN1B2Jul 5, 2017
CDKN1C7Jul 5, 2017
CDT143Mar 6, 2020
CEBPA13Mar 6, 2020
CEL11Jul 5, 2017
CENPE10Jul 5, 2017
CENPF12Mar 6, 2020
CENPJ65Oct 4, 2017
CEP1041Jul 5, 2017
CEP1201Jul 5, 2017
CEP13532Mar 6, 2020
CEP15288Mar 6, 2020
CEP29053Mar 6, 2020
CEP412Sep 15, 2015
CEP6328Jul 5, 2017
CFL22Sep 15, 2015
CFTR8Oct 4, 2017
CFTR-AS12Jul 5, 2017
CHAMP11Jul 5, 2017
CHAT17Jul 5, 2017
CHD27Jul 5, 2017
CHD796Mar 6, 2020
CHEK212Mar 6, 2020
CHKB3Oct 4, 2017
CHKB-CPT1B3Oct 4, 2017
CHMP1A5Jul 5, 2017
CHRNA14Sep 15, 2015
CHRNA27Jun 27, 2014
CHRNA413Jun 27, 2014
CHRNB14Jun 27, 2014
CHRNB24Oct 4, 2017
CHRND9Oct 4, 2017
CHRNE10Jul 5, 2017
CHST143Jul 5, 2017
CIDEC7Jul 5, 2017
CIT3Mar 6, 2020
CLCC12Jul 5, 2017
CLCN45Mar 6, 2020
CLIC21Jul 5, 2017
CLIP117Jul 5, 2017
CLN36Jul 5, 2017
CLN511Jul 5, 2017
CLN68Jul 5, 2017
CLN86Jul 5, 2017
CLRN11Sep 15, 2015
CNNM41Jul 5, 2017
CNTN114Jul 5, 2017
CNTNAP267Mar 6, 2020
COG43Jun 27, 2014
COL11A21Jul 5, 2017
COL18A11Sep 15, 2015
COL4A12Jul 5, 2017
COL5A11Jul 5, 2017
COL6A135Oct 4, 2017
COL6A230Jul 5, 2017
COL6A363Oct 4, 2017
COLQ5Jul 5, 2017
COQ23Jun 27, 2014
COQ41Jun 27, 2014
COQ64Jul 5, 2017
COQ8A12Jul 5, 2017
COX151Jun 27, 2014
CP18Mar 6, 2020
CPA65Jul 5, 2017
CPLANE164Mar 6, 2020
CPS16Sep 15, 2015
CRADD2Jul 5, 2017
CRBN16Mar 6, 2020
CREBBP124Oct 4, 2017
CRPPA11Mar 6, 2020
CRPPA-AS13Sep 15, 2015
CRYAB1Jul 5, 2017
CSF3R15Mar 6, 2020
CSPP17Jul 5, 2017
CSTB2Sep 15, 2015
CTC125Mar 6, 2020
CTCF11Mar 6, 2020
CTDP12Oct 4, 2017
CTNNB114Oct 4, 2017
CTSA1Sep 15, 2015
CTSD8Jun 27, 2014
CTSF2Jul 5, 2017
CUL4B7Oct 4, 2017
CWF19L14Jun 27, 2014
CXCR41Mar 6, 2020
CYP11A12Jul 5, 2017
CYP11B13Jul 5, 2017
CYP17A12Jul 5, 2017
CYP21A21Jul 5, 2017
CYP27A12Jul 5, 2017
CZ1P-ASNS5Mar 6, 2020
D2HGDH51Mar 6, 2020
DAG16Jul 5, 2017
DARS23Jul 5, 2017
DBT4Oct 4, 2017
DCAF178Sep 15, 2015
DCLRE1B2Sep 11, 2014
DCX111Jul 5, 2017
DDHD212Oct 4, 2017
DDX4116Mar 6, 2020
DEAF112Mar 6, 2020
DEPDC54Jul 5, 2017
DES14Jul 5, 2017
DHCR243Jul 5, 2017
DHCR75Mar 6, 2020
DHODH2Jun 27, 2014
DIAPH11Jul 5, 2017
DICER11Jul 5, 2017
DIPK1A2Jul 5, 2017
DKC18Oct 4, 2017
DLAT4Jul 5, 2017
DLG310Oct 4, 2017
DLG3-AS15Oct 4, 2017
DMAC2L4Mar 6, 2020
DMD3Jul 5, 2017
DMP11Jul 5, 2017
DMPK4Jun 27, 2014
DNA21Jul 5, 2017
DNAJB12Jul 5, 2017
DNM12Jul 5, 2017
DNM229Oct 4, 2017
DNMT3A8Jul 5, 2017
DOCK72Jul 5, 2017
DOK719Jul 5, 2017
DPAGT11Apr 30, 2014
DPM24Jun 27, 2014
DPYD2Jul 5, 2017
DTNBP18Jul 5, 2017
DYNC1H1106Mar 6, 2020
DYNC2H18Jul 5, 2017
DYNC2I11Jul 5, 2017
DYNC2LI11Jul 5, 2017
DYRK1A24Mar 6, 2020
DYRK1B4Jul 5, 2017
DYSF34Jul 5, 2017
EBP33Sep 15, 2015
ECEL119Mar 6, 2020
EEF1A21Sep 15, 2015
EEF23Jul 5, 2017
EFHC120Jul 5, 2017
EFNB15Jul 5, 2017
EFTUD210Jul 5, 2017
EGLN11Jul 5, 2017
EHMT159Mar 6, 2020
EIF2AK314Jul 5, 2017
EIF2B32Sep 15, 2015
EIF2B42Jun 27, 2014
EIF2B51Jun 27, 2014
EIF2S34Mar 6, 2020
ELANE11Jul 5, 2017
ELOVL41Jul 5, 2017
ELOVL51Sep 15, 2015
EMD1Jul 5, 2017
ENG3Jul 5, 2017
ENPP12Jul 5, 2017
ENTPD54Jul 5, 2017
EOMES1Sep 15, 2015
EP30034Mar 6, 2020
EPAS11Jul 5, 2017
EPB41L126Mar 6, 2020
EPCAM2Jul 5, 2017
EPG51Sep 15, 2015
EPHA21Jul 5, 2017
EPM2A5Oct 4, 2017
ERCC21Jul 5, 2017
ERCC416Mar 6, 2020
ERCC56Sep 15, 2015
ERCC616Jul 5, 2017
ERCC6-PGBD35Jul 5, 2017
ERCC81Jun 27, 2014
ERF2Jul 5, 2017
ERLIN210Oct 4, 2017
ERMARD5Jul 5, 2017
ESCO211Jul 5, 2017
ESR14Jul 5, 2017
ESR25Mar 6, 2020
ETHE12Jul 5, 2017
ETV65Jul 5, 2017
EVC3Jul 5, 2017
EVC23Jul 5, 2017
EXO11Jul 5, 2017
EXOSC310Jul 5, 2017
EZH213Sep 15, 2015
EZR14Mar 6, 2020
FA2H9Sep 15, 2015
FAM111A1Jul 5, 2017
FANCA39Mar 6, 2020
FANCB9Mar 6, 2020
FANCC12Mar 6, 2020
FANCD218Mar 6, 2020
FANCD2OS3Jul 5, 2017
FANCE6Mar 6, 2020
FANCF6Mar 6, 2020
FANCG7Mar 6, 2020
FANCI27Mar 6, 2020
FANCL11Mar 6, 2020
FANCM9Mar 6, 2020
FAS2Mar 6, 2020
FAT48Mar 6, 2020
FBN12Jul 5, 2017
FBN236Oct 4, 2017
FBXL37Jul 5, 2017
FBXO30-DT2Oct 4, 2017
FBXO316Jul 5, 2017
FGF82Jul 5, 2017
FGFR15Jul 5, 2017
FGFR23Jul 5, 2017
FGFR37Mar 6, 2020
FH1Mar 6, 2020
FHL11Jul 5, 2017
FKRP24Oct 4, 2017
FKTN13Jul 5, 2017
FLI12Jul 5, 2017
FLNA85Mar 6, 2020
FLNC26Jul 5, 2017
FLNC-AS110Jul 5, 2017
FLVCR12Jun 27, 2014
FMN225Mar 6, 2020
FMR19Jul 5, 2017
FOLR11Jul 5, 2017
FOXE11Jul 5, 2017
FOXG139Mar 6, 2020
FOXL21Jul 5, 2017
FOXP122Mar 6, 2020
FOXP21Sep 15, 2015
FOXP39Mar 6, 2020
FOXRED11Oct 4, 2017
FRAS18Jul 5, 2017
FREM24Jul 5, 2017
FRMPD418Mar 6, 2020
FTCD6Jun 27, 2014
FTL2Sep 11, 2014
FTSJ13Jun 27, 2014
FXN2Sep 15, 2015
FYB12Jul 5, 2017
G6PC32Oct 4, 2017
GAA24Oct 4, 2017
GABRA16Jul 5, 2017
GABRB31Jul 5, 2017
GABRG25Jun 27, 2014
GALC2Sep 15, 2015
GAMT5Sep 15, 2015
GAN1Jun 27, 2014
GAREM21Jul 5, 2017
GATA13Mar 6, 2020
GATA219Mar 6, 2020
GATA2-AS13Mar 6, 2020
GATA31Jul 5, 2017
GATA45Jul 5, 2017
GATA67Jul 5, 2017
GATAD2B11Oct 4, 2017
GATM2Jun 27, 2014
GBA1Sep 15, 2015
GBA21Jun 27, 2014
GBE13Mar 6, 2020
GCK45Mar 6, 2020
GDI19Oct 4, 2017
GEN11Jul 5, 2017
GFI16Mar 6, 2020
GFPT17Jul 5, 2017
GH-LCR23Oct 4, 2017
GJA15Jul 5, 2017
GJB236Oct 4, 2017
GJC21Jul 5, 2017
GLB13Jun 27, 2014
GLI24Mar 6, 2020
GLI315Mar 6, 2020
GLIS313Jul 5, 2017
GLIS3-AS11Jul 5, 2017
GLUD112Jul 5, 2017
GMPPB3Jul 5, 2017
GNAO12Jul 5, 2017
GNAS4Jul 5, 2017
GNPAT2Sep 15, 2015
GOSR22Sep 15, 2015
GP1BA9Jul 5, 2017
GP1BB1Sep 11, 2014
GPC31Sep 15, 2015
GPLD11Jul 5, 2017
GPR1434Oct 4, 2017
GPR821Sep 11, 2014
GPSM24Jul 5, 2017
GRIA37Mar 6, 2020
GRIK226Oct 4, 2017
GRIK31Jul 5, 2017
GRIN117Oct 4, 2017
GRIN2A37Mar 6, 2020
GRIN2B36Mar 6, 2020
GRIP11Jul 5, 2017
GRM15Jun 27, 2014
GRN1Jul 5, 2017
GYS11Sep 11, 2014
HADH6Mar 6, 2020
HADHA1Jul 5, 2017
HAX14Jul 5, 2017
HBB2Jul 5, 2017
HCCS4Jul 5, 2017
HCFC140Oct 4, 2017
HDAC812Jul 5, 2017
HEPACAM1Jul 5, 2017
HERC13Jul 5, 2017
HEXA4Sep 15, 2015
HEXB6Oct 4, 2017
HFE3Apr 26, 2018
HFE-AS11Apr 26, 2018
HFM12Jul 5, 2017
HLCS1Jun 27, 2014
HMBS1Apr 30, 2014
HNF1A30Mar 6, 2020
HNF4A23Mar 6, 2020
HNRNPU1Jul 5, 2017
HNRNPUL2-BSCL27Oct 4, 2017
HOXA111Jul 5, 2017
HOXA132Jul 5, 2017
HPRT12Jul 5, 2017
HPS110Oct 4, 2017
HPS34Mar 6, 2020
HPS48Jul 5, 2017
HPS57Jul 5, 2017
HPS69Jul 5, 2017
HSD11B11Jul 5, 2017
HSD11B1-AS11Jul 5, 2017
HSD17B105Jul 5, 2017
HSD17B32Jul 5, 2017
HSD17B3-AS11Jul 5, 2017
HSPD13Jun 27, 2014
HUWE146Mar 6, 2020
IDH217Mar 6, 2020
IER3IP12Jul 5, 2017
IFIH11Jul 5, 2017
IFT1225Sep 15, 2015
IFT1406Jun 27, 2014
IFT1721Jul 5, 2017
IGBP13Jul 5, 2017
IL11RA2Jul 5, 2017
IL1RAPL13Mar 6, 2020
IL4I15Sep 15, 2015
INPP5E20Jul 5, 2017
INS16Mar 6, 2020
INS-IGF213Oct 4, 2017
INSR28Mar 6, 2020
INVS1Jul 5, 2017
IQCB11Jul 5, 2017
IQCG2Jul 5, 2017
IQSEC225Oct 4, 2017
IRF61Jul 5, 2017
ITGA2B3Jul 5, 2017
ITGA719Jul 5, 2017
ITGB33Jul 5, 2017
ITPR110Mar 6, 2020
IYD2Jul 5, 2017
JMJD84Jul 5, 2017
KAT6B1Sep 15, 2015
KATNB14Jul 5, 2017
KBTBD1310Mar 6, 2020
KCNA14Jul 5, 2017
KCNC34Jul 5, 2017
KCND33Jul 5, 2017
KCNH53Jul 5, 2017
KCNJ1013Jul 5, 2017
KCNJ1151Mar 6, 2020
KCNMA114Mar 6, 2020
KCNMA1-AS16Sep 15, 2015
KCNQ11Sep 15, 2015
KCNQ226Oct 4, 2017
KCNQ310Oct 4, 2017
KCNT129Oct 4, 2017
KCTD74Sep 15, 2015
KDM5C20Oct 4, 2017
KDM6A8Sep 15, 2015
KIAA05862Jul 5, 2017
KIF1118Mar 6, 2020
KIF142Jul 5, 2017
KIF1A71Mar 6, 2020
KIF1B4Jul 5, 2017
KIF1C1Jul 5, 2017
KIF2A2Jul 5, 2017
KIF4A2Jul 5, 2017
KIF727Jul 5, 2017
KIFBP16Mar 6, 2020
KIRREL323Mar 6, 2020
KISS1R1Jul 5, 2017
KIT2Jul 5, 2017
KLF116Jul 5, 2017
KLF82Oct 4, 2017
KLLN2Mar 6, 2020
KMT2A21Oct 4, 2017
KMT2D167Mar 6, 2020
KNL170Mar 6, 2020
KPTN10Jul 5, 2017
KRT51Jul 5, 2017
L1CAM34Oct 4, 2017
L2HGDH25Mar 6, 2020
LAMA13Jul 5, 2017
LAMA262Mar 6, 2020
LAMB117Jul 5, 2017
LAMC367Oct 4, 2017
LARGE130Mar 6, 2020
LARP74Sep 15, 2015
LDB32Jul 5, 2017
LEP1Jul 5, 2017
LEPR4Jul 5, 2017
LGI11Apr 30, 2014
LHCGR1Jul 5, 2017
LIG412Oct 4, 2017
LINS120Oct 4, 2017
LIPE4Jul 5, 2017
LIPE-AS14Jul 5, 2017
LIX1L-AS11Mar 6, 2020
LMNA57Oct 4, 2017
LMNB11Jun 27, 2014
LMNB26Jul 5, 2017
LMOD32Jul 5, 2017
LOC1001305872Jun 27, 2014
LOC1002879442Sep 15, 2015
LOC10192705512Jul 5, 2017
LOC10192787017Mar 6, 2020
LOC1019280084Mar 6, 2020
LOC1019283353Mar 6, 2020
LOC1019283715Jul 5, 2017
LOC1019290891Sep 15, 2015
LOC1019297103Jul 5, 2017
LOC1019300713Jul 5, 2017
LOC10272405820Mar 6, 2020
LOC1053710462Jun 27, 2014
LOC1053715661Jul 5, 2017
LOC1060990622Jul 5, 2017
LOC1066279811Sep 15, 2015
LOC1067217854Mar 6, 2020
LOC1067808001Jul 5, 2017
LOC1067998332Jul 5, 2017
LOC1070753171Apr 30, 2014
LOC1071262882Jul 5, 2017
LOC1071335102Jul 5, 2017
LOC10730333815Mar 6, 2020
LOC1073033401Jul 5, 2017
LOC1079850331Jul 5, 2017
LOC1086639841Jul 5, 2017
LOC1086639874Sep 15, 2015
LOC10866399310Sep 15, 2015
LOC1086639964Sep 15, 2015
LOC1094614845Mar 6, 2020
LOC1095047256Oct 4, 2017
LOC10961063116Sep 15, 2015
LOC1096115891Oct 4, 2017
LOC1101214712Jul 5, 2017
LOC1108063061Jul 5, 2017
LOC1115892155Jul 5, 2017
LOC1116744771Jun 27, 2014
LOC1117217053Jul 5, 2017
LOC1124862233Mar 6, 2020
LOC1125336714Jul 5, 2017
LOC1129975401Jun 27, 2014
LOC1148034701Sep 15, 2015
LOC1148034752Jul 5, 2017
LOC11530816117Mar 6, 2020
LRBA3Jul 5, 2017
LRMDA1Jul 5, 2017
LRP277Oct 4, 2017
LRP42Oct 4, 2017
LRPPRC3Jun 27, 2014
LRRC37A22Sep 15, 2015
LURAP1L-AS18Jul 5, 2017
LYST21Jul 5, 2017
MAF1Jul 5, 2017
MAG1Jul 5, 2017
MAGEL218Mar 6, 2020
MAGI223Oct 4, 2017
MAGI2-AS31Apr 30, 2014
MAGT11Jun 27, 2014
MAK161Jul 5, 2017
MAN1B139Mar 6, 2020
MAN2B14Jun 27, 2014
MAOA11Jul 5, 2017
MAP3K13Jul 5, 2017
MAPK104Sep 15, 2015
MAPK10-AS11Sep 15, 2015
MBD524Mar 6, 2020
MC4R9Jul 5, 2017
MCM71Sep 15, 2015
MCPH190Mar 6, 2020
MCPH1-AS126Oct 4, 2017
MECP2118Mar 6, 2020
MED1228Mar 6, 2020
MED1721Oct 4, 2017
MED2314Mar 6, 2020
MEF2C12Jul 5, 2017
MEF2C-AS22Sep 15, 2015
MEGF82Jul 5, 2017
MEN12Jul 5, 2017
METTL234Jul 5, 2017
MFSD2A1Jul 5, 2017
MFSD85Oct 4, 2017
MHRT5Sep 15, 2015
MID116Oct 4, 2017
MID24Mar 6, 2020
MIF4GD-DT5Jul 5, 2017
MIR302CHG3Sep 15, 2015
MKKS2Jul 5, 2017
MKS114Mar 6, 2020
MLC18Jun 27, 2014
MLH110Mar 6, 2020
MLPH4Jul 5, 2017
MMAB1Jun 27, 2014
MMACHC1Jul 5, 2017
MMUT2Jul 5, 2017
MNX15Jul 5, 2017
MNX1-AS21Jul 5, 2017
MPDZ20Oct 4, 2017
MPL11Mar 6, 2020
MPZ1Jun 27, 2014
MR12Jun 27, 2014
MRE113Sep 15, 2015
MRPL361Sep 15, 2015
MSH214Mar 6, 2020
MSH621Mar 6, 2020
MSX21Sep 15, 2015
MTFMT1Jul 5, 2017
MTM1152Mar 6, 2020
MTPAP1Jun 27, 2014
MTRFR1Jun 27, 2014
MTTP7Jul 5, 2017
MUSK13Jul 5, 2017
MUTYH1Jul 5, 2017
MVK5Jul 5, 2017
MYBPC114Jul 5, 2017
MYEF21Jul 5, 2017
MYF61Jul 5, 2017
MYH117Sep 15, 2015
MYH333Oct 4, 2017
MYH724Jul 5, 2017
MYH827Oct 4, 2017
MYH92Jul 5, 2017
MYHAS27Oct 4, 2017
MYO15A1Jul 5, 2017
MYO5A11Oct 4, 2017
MYOT3Jun 27, 2014
NAA102Jul 5, 2017
NAGA1Jul 5, 2017
NBEAL27Mar 6, 2020
NBN23Mar 6, 2020
NDE127Oct 4, 2017
NDST121Jul 5, 2017
NDUFA102Jun 27, 2014
NDUFA91Jun 27, 2014
NDUFAF14Mar 6, 2020
NDUFAF21Jun 27, 2014
NDUFAF42Jun 27, 2014
NDUFAF52Sep 15, 2015
NDUFAF61Sep 15, 2015
NDUFB31Jul 5, 2017
NDUFS12Jun 27, 2014
NDUFS22Jun 27, 2014
NDUFS43Jun 27, 2014
NDUFS61Sep 15, 2015
NDUFS73Jun 27, 2014
NDUFV22Jun 27, 2014
NEB95Oct 4, 2017
NEK14Jul 5, 2017
NEU12Jul 5, 2017
NEUROD11Apr 30, 2014
NEUROG33Jul 5, 2017
NEXMIF24Mar 6, 2020
NF114Mar 6, 2020
NF21Jul 5, 2017
NFIA4Jul 5, 2017
NFIX4Jul 5, 2017
NHEJ14Jul 5, 2017
NHLRC13Jun 27, 2014
NHP29Mar 6, 2020
NHS31Mar 6, 2020
NIN48Mar 6, 2020
NIPA12Sep 15, 2015
NIPBL345Nov 1, 2020
NKIRAS11Mar 6, 2020
NKX2-12Mar 6, 2020
NKX2-514Oct 4, 2017
NLGN310Jul 5, 2017
NLGN4X11Jul 5, 2017
NOP102Jul 5, 2017
NOP565Jun 27, 2014
NOTCH31Jul 5, 2017
NPAT1Jul 5, 2017
NPC111Jul 5, 2017
NPHP18Oct 4, 2017
NPHP33Jul 5, 2017
NPHP3-ACAD113Jul 5, 2017
NPHP3-AS11Jul 5, 2017
NR0B11Jul 5, 2017
NR0B21Sep 15, 2015
NR5A15Jul 5, 2017
NRAS1Sep 15, 2015
NRXN163Oct 4, 2017
NRXN246Mar 6, 2020
NSD1260Mar 6, 2020
NSD21Jul 5, 2017
NSDHL19Mar 6, 2020
NSMF1Jul 5, 2017
NSUN236Oct 4, 2017
NTRK22Jul 5, 2017
NUDC1Sep 15, 2015
NUP625Sep 15, 2015
OCA229Mar 6, 2020
OCLN10Oct 4, 2017
OCRL11Oct 4, 2017
OFD126Mar 6, 2020
OPA11Jul 5, 2017
OPA31Jun 27, 2014
OPHN121Mar 6, 2020
ORC128Mar 6, 2020
ORC414Mar 6, 2020
ORC68Jul 5, 2017
OTC2Jun 27, 2014
OTUD41Sep 15, 2015
PACS123Jul 5, 2017
PAFAH1B1110Oct 4, 2017
PAH1Jul 5, 2017
PAK36Oct 4, 2017
PALB213Mar 6, 2020
PALLD1Sep 15, 2015
PARN11Mar 6, 2020
PAX410Mar 6, 2020
PAX54Mar 6, 2020
PAX82Jul 5, 2017
PAX8-AS12Jul 5, 2017
PC2Jul 5, 2017
PCDH1938Oct 4, 2017
PCNT353Mar 6, 2020
PCSK13Jul 5, 2017
PDE4D1Jul 5, 2017
PDHA14Jul 5, 2017
PDHB1Jun 27, 2014
PDX15Oct 4, 2017
PDYN3Jul 5, 2017
PDYN-AS13Jul 5, 2017
PEX13Jul 5, 2017
PEX103Jul 5, 2017
PEX21Sep 15, 2015
PEX61Jul 5, 2017
PEX76Jul 5, 2017
PFAS1Jul 5, 2017
PGAP111Jul 5, 2017
PGBD31Jun 27, 2014
PHC111Jul 5, 2017
PHF64Sep 15, 2015
PHF89Oct 4, 2017
PHYH3Jun 27, 2014
PI4KA1Jul 5, 2017
PIEZO23Jul 5, 2017
PIGA1Sep 15, 2015
PIGL19Sep 11, 2014
PIK3R113Mar 6, 2020
PIK3R57Mar 6, 2020
PKHD13Jul 5, 2017
PLA2G670Mar 6, 2020
PLCB126Mar 6, 2020
PLEC109Oct 4, 2017
PLEKHG43Jun 27, 2014
PLIN112Jul 5, 2017
PLK46Jul 5, 2017
PLP15Jul 5, 2017
PLUT2Jul 5, 2017
PMM22Sep 15, 2015
PMP221Sep 15, 2015
PMS216Mar 6, 2020
PNKP58Mar 6, 2020
PNPLA63Jun 27, 2014
PNPO5Sep 15, 2015
POC1A6Sep 15, 2015
POGZ1Jul 5, 2017
POLD16Jul 5, 2017
POLE3Mar 6, 2020
POLG35Mar 6, 2020
POLR1C3Jul 5, 2017
POLR3A5Mar 6, 2020
POLR3B6Sep 15, 2015
POMC5Mar 6, 2020
POMGNT114Mar 6, 2020
POMGNT213Mar 6, 2020
POMK4Jul 5, 2017
POMT134Oct 4, 2017
POMT217Jul 5, 2017
POR4Jul 5, 2017
POT18Mar 6, 2020
PPARG18Jul 5, 2017
PPP1R15B1Jul 5, 2017
PPP1R3A1Jul 5, 2017
PPT16Jul 5, 2017
PQBP15Jul 5, 2017
PRDM93Jul 5, 2017
PREPL4Jul 5, 2017
PRF12Jul 5, 2017
PRICKLE110Sep 15, 2015
PRICKLE27Sep 15, 2015
PRICKLE2-AS31Jun 27, 2014
PRKACG1Jul 5, 2017
PRKCG6Jul 5, 2017
PRNP1Jun 27, 2014
PROK21Jul 5, 2017
PROKR21Jul 5, 2017
PROP11Jul 5, 2017
PRPS11Jul 5, 2017
PRRT26Oct 4, 2017
PRSS1232Mar 6, 2020
PRSS371Jul 5, 2017
PRX6Jun 27, 2014
PSMB82Jul 5, 2017
PTCH12Jul 5, 2017
PTCHD113Mar 6, 2020
PTEN10Mar 6, 2020
PTF1A4Mar 6, 2020
PTPN113Oct 4, 2017
PTPRJ1Sep 15, 2015
PTS1Jul 5, 2017
PURA5Jul 5, 2017
PYCR22Jul 5, 2017
QARS12Jul 5, 2017
RAB184Jul 5, 2017
RAB232Jul 5, 2017
RAB27A2Jul 5, 2017
RAB39B5Jul 5, 2017
RAB3GAP127Mar 6, 2020
RAB3GAP232Oct 4, 2017
RAB9B5Jul 5, 2017
RAD2113Jul 5, 2017
RAD5010Oct 4, 2017
RAD512Jul 5, 2017
RAD51C4Jul 5, 2017
RAD51D1Jul 5, 2017
RAD51L3-RFFL1Jul 5, 2017
RAI167Mar 6, 2020
RAPSN6Jul 5, 2017
RARS215Mar 6, 2020
RBBP823Oct 4, 2017
RBM101Jul 5, 2017
RBM8A4Mar 6, 2020
RECQL47Jul 5, 2017
REEP11Jun 27, 2014
RELN104Mar 6, 2020
RET1Sep 15, 2015
RFX614Jul 5, 2017
RIF120Jul 5, 2017
RIN215Jul 5, 2017
RIPK43Jul 5, 2017
RLIM1Jul 5, 2017
RMND5B3Mar 6, 2020
RNASET21Jul 5, 2017
RNF1251Jul 5, 2017
RNF1353Mar 6, 2020
RNF179Sep 15, 2015
RNF1701Apr 30, 2014
RNF2162Sep 15, 2015
ROGDI1Jun 27, 2014
ROR217Jul 5, 2017
RPGRIP1L18Jul 5, 2017
RPL102Jun 27, 2014
RPL111Jul 5, 2017
RPL151Mar 6, 2020
RPL35A2Jul 5, 2017
RPL52Jul 5, 2017
RPS193Mar 6, 2020
RPS244Jul 5, 2017
RPS262Jul 5, 2017
RPS6KA312Mar 6, 2020
RPS71Sep 15, 2015
RS18Mar 6, 2020
RTEL143Mar 6, 2020
RTEL1-TNFRSF6B43Mar 6, 2020
RTN21Jun 27, 2014
RTTN59Mar 6, 2020
RUBCN4Jun 27, 2014
RUNX111Mar 6, 2020
RUNX21Oct 4, 2017
RXYLT13Jul 5, 2017
RYR1167Oct 4, 2017
SACS20Mar 6, 2020
SALL11Jul 5, 2017
SAMD9L1Jul 5, 2017
SASS62Jul 5, 2017
SATB21Jul 5, 2017
SBDS4Jul 5, 2017
SBF212Mar 6, 2020
SBF2-AS11Jul 5, 2017
SCAMP46Jul 5, 2017
SCARB21Sep 15, 2015
SCARF22Jul 5, 2017
SCN11A1Jul 5, 2017
SCN1A33Mar 6, 2020
SCN1A-AS127Jul 5, 2017
SCN1B7Jul 5, 2017
SCN2A57Mar 6, 2020
SCN4A29Oct 4, 2017
SCN8A25Oct 4, 2017
SCN9A30Jul 5, 2017
SCO22Jun 27, 2014
SDCCAG88Jul 5, 2017
SDHA15Jul 5, 2017
SDHAF21Jul 5, 2017
SDHB2Mar 6, 2020
SDHD4Mar 6, 2020
SELENON12Oct 4, 2017
SEPSECS8Mar 6, 2020
SEPT5-GP1BB1Sep 11, 2014
SETBP123Sep 15, 2015
SETD25Jul 5, 2017
SETD515Jul 5, 2017
SETX10Sep 15, 2015
SF3B48Sep 15, 2015
SFTA32Mar 6, 2020
SFXN41Jul 5, 2017
SGCA5Jul 5, 2017
SGCB1Jul 5, 2017
SGCD3Jun 27, 2014
SGCE1Jul 5, 2017
SGCG5Jun 27, 2014
SH2D1A1Jul 5, 2017
SH3TC26Jun 27, 2014
SHANK232Mar 6, 2020
SHANK34Jul 5, 2017
SHH1Jul 5, 2017
SHOC21Sep 15, 2015
SHROOM426Oct 4, 2017
SIL11Jun 27, 2014
SIM12Jul 5, 2017
SKI2Jul 5, 2017
SLA1Jul 5, 2017
SLC12A619Jul 5, 2017
SLC13A51Jul 5, 2017
SLC16A18Oct 4, 2017
SLC16A225Jul 5, 2017
SLC17A51Jun 27, 2014
SLC19A23Jun 27, 2014
SLC19A39Oct 4, 2017
SLC1A11Sep 15, 2015
SLC1A32Jul 5, 2017
SLC1A41Jul 5, 2017
SLC24A52Jul 5, 2017
SLC25A16Mar 6, 2020
SLC25A1913Oct 4, 2017
SLC25A2220Jul 5, 2017
SLC26A21Jul 5, 2017
SLC29A316Sep 15, 2015
SLC2A142Mar 6, 2020
SLC2A25Jul 5, 2017
SLC34A33Jul 5, 2017
SLC35A11Jun 27, 2014
SLC3A11Jul 5, 2017
SLC45A210Jul 5, 2017
SLC52A21Sep 15, 2015
SLC6A178Jul 5, 2017
SLC6A195Jul 5, 2017
SLC6A817Mar 6, 2020
SLC9A622Oct 4, 2017
SLFN141Jul 5, 2017
SLX443Mar 6, 2020
SMAD41Jul 5, 2017
SMAD61Jul 5, 2017
SMARCA233Mar 6, 2020
SMARCA463Mar 6, 2020
SMARCB14Jul 5, 2017
SMARCE13Mar 6, 2020
SMC1A42Jul 5, 2017
SMC335Oct 4, 2017
SMPD11Sep 15, 2015
SMS3Sep 15, 2015
SNAP292Jul 5, 2017
SNHG1475Mar 6, 2020
SOBP28Oct 4, 2017
SOD11Jul 5, 2017
SOS14Sep 15, 2015
SOX114Jul 5, 2017
SOX31Jul 5, 2017
SPART1Jun 27, 2014
SPAST2Sep 15, 2015
SPATA52Mar 6, 2020
SPATA6L1Sep 15, 2015
SPECC1L1Jul 5, 2017
SPECC1L-ADORA2A1Jul 5, 2017
SPG1110Mar 6, 2020
SPG711Oct 4, 2017
SPTAN175Oct 4, 2017
SPTBN29Mar 6, 2020
SRCAP12Oct 4, 2017
SRD5A24Mar 6, 2020
SRD5A34Jul 5, 2017
SRD5A3-AS11Sep 15, 2015
SRP7218Mar 6, 2020
SRPX213Mar 6, 2020
SRY1Jul 5, 2017
SSUH22Jun 27, 2014
ST3GAL324Jul 5, 2017
ST3GAL423Mar 6, 2020
ST3GAL54Jul 5, 2017
STAMBP14Jul 5, 2017
STAT12Jul 5, 2017
STIL36Oct 4, 2017
STON1-GTF2A1L1Jul 5, 2017
STRADA2Jul 5, 2017
STUB15Jul 5, 2017
STX161Jul 5, 2017
STX16-NPEPL11Jul 5, 2017
STXBP128Mar 6, 2020
STXBP23Jul 5, 2017
SUCLG11Sep 15, 2015
SUOX2Sep 15, 2015
SURF11Jul 5, 2017
SYN119Mar 6, 2020
SYNE1100Mar 6, 2020
SYNE1-AS11Jul 5, 2017
SYNE274Mar 6, 2020
SYNGAP139Mar 6, 2020
SYP2Sep 15, 2015
SYP-AS11Sep 15, 2015
SYT142Sep 15, 2015
SZT214Jul 5, 2017
TACR33Jul 5, 2017
TAF24Mar 6, 2020
TBC1D204Jul 5, 2017
TBC1D2419Mar 6, 2020
TBC1D427Mar 6, 2020
TBC1D71Jul 5, 2017
TBC1D7-LOC1001303571Jul 5, 2017
TBCE1Jul 5, 2017
TBP5Sep 15, 2015
TCAP4Oct 4, 2017
TCF123Jul 5, 2017
TCF445Jul 5, 2017
TCF4-AS11Sep 11, 2014
TCOF120Oct 4, 2017
TCTN110Sep 15, 2015
TCTN220Oct 4, 2017
TCTN37Oct 4, 2017
TECR15Mar 6, 2020
TERC3Jul 5, 2017
TERT40Mar 6, 2020
TG8Jul 5, 2017
TGFBR21Jul 5, 2017
TGM66Mar 6, 2020
THRA1Jul 5, 2017
THRB2Jul 5, 2017
TINF26Mar 6, 2020
TMEM1271Mar 6, 2020
TMEM1382Jul 5, 2017
TMEM2162Jun 27, 2014
TMEM2319Jul 5, 2017
TMEM2374Sep 15, 2015
TMEM2402Jul 5, 2017
TMEM435Jul 9, 2015
TMEM6720Sep 15, 2015
TMEM704Jun 27, 2014
TMPPE2Jun 27, 2014
TMPRSS31Jul 5, 2017
TNFRSF13B2Jul 5, 2017
TNNI27Jul 5, 2017
TNNI32Jun 27, 2014
TNNT14Jul 5, 2017
TNNT37Jul 5, 2017
TP5313Mar 6, 2020
TP53BP12Jul 5, 2017
TPM23Jul 5, 2017
TPM32Sep 15, 2015
TPO3Jul 5, 2017
TPP112Mar 6, 2020
TRAPPC111Jul 5, 2017
TRAPPC999Mar 6, 2020
TRIM322Jul 5, 2017
TRMT10A5Jul 5, 2017
TRNT13Mar 6, 2020
TSC110Sep 15, 2015
TSC232Jul 5, 2017
TSEN231Mar 6, 2020
TSEN3411Oct 4, 2017
TSEN5444Oct 4, 2017
TSHB1Jul 5, 2017
TSHR3Jul 5, 2017
TSPAN112Mar 6, 2020
TSPAN77Jul 5, 2017
TTBK22Jun 27, 2014
TTC192Jul 5, 2017
TTC21B19Mar 6, 2020
TTC21B-AS14Oct 4, 2017
TTC82Jul 5, 2017
TTI29Jul 5, 2017
TTN435Mar 6, 2020
TTN-AS1223Mar 6, 2020
TTPA1Sep 15, 2015
TTR1Sep 15, 2015
TUBA1A48Mar 6, 2020
TUBA811Oct 4, 2017
TUBB2A4Oct 4, 2017
TUBB2B17Jul 5, 2017
TUBB324Jul 5, 2017
TUBB4A2Oct 4, 2017
TUBG11Jul 5, 2017
TUBGCP47Jul 5, 2017
TUBGCP644Mar 6, 2020
TUSC38Oct 4, 2017
TWIST11Jul 5, 2017
TYMP3Jul 5, 2017
TYR40Mar 6, 2020
TYRP19Jul 5, 2017
UACA1Jul 5, 2017
UBE2A1Jul 5, 2017
UBE3A75Mar 6, 2020
UBR13Jul 5, 2017
UCP214Mar 6, 2020
UCP31Jul 5, 2017
UGT1A27Mar 6, 2020
UGT1A127Mar 6, 2020
UGT1A1027Mar 6, 2020
UGT1A327Mar 6, 2020
UGT1A427Mar 6, 2020
UGT1A527Mar 6, 2020
UGT1A627Mar 6, 2020
UGT1A727Mar 6, 2020
UGT1A827Mar 6, 2020
UGT1A927Mar 6, 2020
UIMC11Jul 5, 2017
UPF3B6Jul 5, 2017
UROC13Sep 15, 2015
USB11Sep 15, 2015
USP9X1Jul 5, 2017
UTP231Sep 11, 2014
VCP1Jul 5, 2017
VDR1Jul 5, 2017
VHL2Jul 5, 2017
VLDLR54Mar 6, 2020
VLDLR-AS18Jul 5, 2017
VPS13B115Mar 6, 2020
VPS33B1Jul 5, 2017
VPS453Jul 5, 2017
VRK16Jul 5, 2017
VRK26Mar 6, 2020
VWF2Jul 5, 2017
WAS7Mar 6, 2020
WASHC420Jul 5, 2017
WASHC53Jul 5, 2017
WDPCP3Jul 5, 2017
WDR111Jul 5, 2017
WDR192Jul 5, 2017
WDR357Jul 5, 2017
WDR457Jul 5, 2017
WDR62118Mar 6, 2020
WDR8114Jun 27, 2014
WFS138Mar 6, 2020
WNT5A7Oct 4, 2017
WRAP5310Mar 6, 2020
WRN12Jul 5, 2017
WWOX11Jul 5, 2017
XRCC22Jul 5, 2017
ZC3H1422Oct 4, 2017
ZDHHC156Mar 6, 2020
ZDHHC247Jul 5, 2017
ZDHHC91Jul 5, 2017
ZEB11Jul 5, 2017
ZEB258Mar 6, 2020
ZFP5710Jul 5, 2017
ZFYVE2610Sep 15, 2015
ZFYVE274Sep 15, 2015
ZIC21Jul 5, 2017
ZIC41Jun 27, 2014
ZMPSTE243Jul 5, 2017
ZMYND114Jul 5, 2017
ZNF2762Mar 6, 2020
ZNF33552Mar 6, 2020
ZNF40768Mar 6, 2020
ZNF412Jun 27, 2014
ZNF4692Jul 5, 2017
ZNF52623Jul 5, 2017
ZNF5923Sep 15, 2015
ZNF6746Jun 27, 2014
ZNF7119Mar 6, 2020
ZNF8116Mar 6, 2020
ZRANB36Mar 6, 2020
ZSWIM61Jul 5, 2017

Condition

NameSubmissionsLast Updated
22q13.3 deletion syndrome1Jul 5, 2017
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency3Mar 6, 2020
46,XX sex reversal, type 11Jul 5, 2017
46,XY sex reversal, type 11Jul 5, 2017
46,XY sex reversal, type 33Jul 5, 2017
Abetalipoproteinaemia1Jul 5, 2017
Abnormal cortical gyration10Sep 15, 2015
Abnormality of cardiovascular system morphology4Sep 15, 2015
Acrodysostosis 2, with or without hormone resistance1Jul 5, 2017
Acute lymphoid leukemia1Jul 5, 2017
Acute myeloid leukemia4Jul 5, 2017
Adenylosuccinate lyase deficiency3Jul 5, 2017
Agenesis of the corpus callosum with peripheral neuropathy4Jul 5, 2017
Alazami syndrome1Sep 15, 2015
Albinism, oculocutaneous, type VI1Jul 5, 2017
Allan-Herndon-Dudley syndrome14Jul 5, 2017
Alpha-N-acetylgalactosaminidase deficiency1Jul 5, 2017
Alpha-thalassemia/mental retardation syndrome1Oct 4, 2017
Alstrom syndrome5Jul 5, 2017
Alternating hemiplegia of childhood 27Jul 5, 2017
Amyotrophic lateral sclerosis type 11Jul 5, 2017
Androgen resistance syndrome2Jul 5, 2017
Angelman syndrome45Mar 6, 2020
Aortic aneurysm, familial thoracic 42Sep 15, 2015
Argininosuccinate lyase deficiency2Sep 15, 2015
Arthrogryposis, renal dysfunction, and cholestasis 11Jul 5, 2017
Arthyrgryposis, distal, type 2B2Sep 15, 2015
Asparagine synthetase deficiency3Jul 5, 2017
Ataxia, sensory, autosomal dominant1Apr 30, 2014
Ataxia-oculomotor apraxia type 12Jul 5, 2017
Ataxia-telangiectasia syndrome4Jul 5, 2017
Autism, susceptibility to, X-linked 41Jul 5, 2017
Autosomal recessive limb-girdle muscular dystrophy type 2B1Sep 15, 2015
Autosomal recessive limb-girdle muscular dystrophy type 2D2Jul 5, 2017
BH4-deficient hyperphenylalaninemia A1Jul 5, 2017
Bainbridge-Ropers syndrome1Sep 15, 2015
Baraitser-Winter Syndrome 25Jul 5, 2017
Baraitser-Winter syndrome 14Jul 5, 2017
Bardet-Biedl syndrome 12Jul 5, 2017
Bardet-Biedl syndrome 103Jul 5, 2017
Bardet-Biedl syndrome 122Jul 5, 2017
Bardet-Biedl syndrome 141Jul 5, 2017
Bardet-Biedl syndrome 51Jul 5, 2017
Beckwith-Wiedemann syndrome1Sep 15, 2015
Bernard-Soulier syndrome, type A11Jul 5, 2017
Bernard-Soulier syndrome, type B1Sep 11, 2014
Biotinidase deficiency4Jul 5, 2017
Bleeding disorder, platelet-type, 211Jul 5, 2017
Brachydactyly, type B1Robinow syndrome, autosomal recessive2Sep 11, 2014
Brain malformations and urinary tract defects1Jul 5, 2017
Brain small vessel disease 1 with or without ocular anomalies1Jul 5, 2017
Branched-chain keto acid dehydrogenase kinase deficiency1Jul 5, 2017
Breast cancer, early-onset5Apr 26, 2018
Breast cancer, susceptibility to8Mar 6, 2020
Breast-ovarian cancer, familial 110Jul 5, 2017
Breast-ovarian cancer, familial 25Jul 5, 2017
Breast-ovarian cancer, familial 31Jul 5, 2017
Brown-Vialetto-Van Laere syndrome 21Sep 15, 2015
Brugada syndrome 91Jul 5, 2017
CHARGE association47Jul 5, 2017
CHIME syndrome19Sep 11, 2014
Cerebellar ataxia1Sep 15, 2015
Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 12Sep 15, 2015
Cerebral folate transport deficiency1Jul 5, 2017
Cerebroretinal microangiopathy with calcifications and cysts2Mar 6, 2020
Ceroid lipofuscinosis neuronal 22Jul 5, 2017
Ceroid lipofuscinosis, neuronal, 132Jul 5, 2017
Charcot-Marie-Tooth disease, type 4k1Jul 5, 2017
Charlevoix-Saguenay spastic ataxia4Sep 15, 2015
Child syndrome7Sep 15, 2015
Cholestanol storage disease1Jul 5, 2017
Chondrodysplasia punctata 2 X-linked dominant32Sep 15, 2015
Choreoathetosis, hypothyroidism, and neonatal respiratory distress1Jul 5, 2017
Christianson syndrome6Jul 5, 2017
Chromosome 2q32-q33 deletion syndrome1Jul 5, 2017
Chédiak-Higashi syndrome1Jul 5, 2017
Citrullinemia type I2Jul 5, 2017
Cobalamin C disease1Jul 5, 2017
Cockayne syndrome B6Jul 5, 2017
Coenzyme Q10 deficiency, primary, 49Jul 5, 2017
Coenzyme Q10 deficiency, primary, 61Jul 5, 2017
Coffin Siris/Intellectual Disability6Feb 24, 2014
Coffin-Siris syndrome 117Jul 5, 2017
Cohen syndrome6Jul 5, 2017
Colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas1Jul 5, 2017
Combined oxidative phosphorylation deficiency 151Jul 5, 2017
Common variable immunodeficiency 21Jul 5, 2017
Congenital amegakaryocytic thrombocytopenia4Jul 5, 2017
Congenital disorder of glycosylation type 1C1Sep 15, 2015
Congenital disorder of glycosylation, type Ia1Sep 15, 2015
Congenital generalized lipodystrophy type 12Sep 15, 2015
Congenital generalized lipodystrophy type 23Jul 5, 2017
Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies2Jul 5, 2017
Congenital muscular dystrophy due to partial LAMA2 deficiency1Jul 5, 2017
Congenital muscular hypertrophy-cerebral syndrome27Sep 15, 2015
Congenital myasthenic syndrome1Jul 5, 2017
Congenital myasthenic syndrome 4C2Sep 15, 2015
Congenital myopathy with fiber type disproportion2Jul 5, 2017
Corneal dystrophy1Jul 5, 2017
Cornelia de Lange syndrome 1263Nov 1, 2020
Cornelia de Lange syndrome 323Oct 4, 2017
Cornelia de Lange syndrome 46Jul 5, 2017
Cornelia de Lange syndrome 58Sep 15, 2015
Cortical dysplasia, complex, with other brain malformations 18Jul 5, 2017
Cortical dysplasia, complex, with other brain malformations 31Jul 5, 2017
Cortical dysplasia, complex, with other brain malformations 52Jul 5, 2017
Cowden syndrome 12Jul 5, 2017
Craniofrontonasal syndrome4Jul 5, 2017
Craniosynostosis 31Jul 5, 2017
Craniosynostosis syndrome3Sep 15, 2015
Creatine transporter deficiency1Jul 5, 2017
Crigler-Najjar syndrome4Jul 5, 2017
Currarino triad1Jul 5, 2017
Cystic fibrosis1Jul 5, 2017
D-2-hydroxyglutaric aciduria2Sep 15, 2015
D-2-hydroxyglutaric aciduria 13Sep 11, 2014
D-2-hydroxyglutaric aciduria 21Sep 15, 2015
Deafness, autosomal recessive 1A4Oct 4, 2017
Deafness, autosomal recessive 31Jul 5, 2017
Deafness, autosomal recessive 81Jul 5, 2017
Deficiency of ferroxidase1Jul 5, 2017
Deficiency of steroid 17-alpha-monooxygenase2Jul 5, 2017
Desmosterolosis1Jul 5, 2017
Diabetes mellitus8Sep 11, 2014
Diabetes mellitus type 12Apr 30, 2014
Diabetes mellitus, insulin-dependent, 21Apr 30, 2014
Diamond-Blackfan anemia 11Jul 5, 2017
Diamond-Blackfan anemia 101Sep 15, 2015
Diarrhea 4, malabsorptive, congenital1Jul 5, 2017
Dilated cardiomyopathy 1A6Jul 5, 2017
Distal arthrogryposis1Jul 5, 2017
Distal arthrogryposis type 2B3Jul 5, 2017
Distal arthrogryposis type 5D6Jul 5, 2017
Donnai-Barrow syndrome1Sep 15, 2015
Duchenne muscular dystrophy1Sep 15, 2015
Dyskeratosis congenita7Jul 5, 2017
Dyskeratosis congenita, X-linked1Jul 5, 2017
Dyskeratosis congenita, autosomal dominant 12Jul 5, 2017
Dyskeratosis congenita, autosomal dominant, 21Oct 4, 2017
Dyskeratosis congenita, autosomal dominant, 31Sep 15, 2015
Dyskeratosis congenita, autosomal recessive 62Jul 5, 2017
EAST syndrome1Sep 15, 2015
Early infantile epileptic encephalopathy 1025Jul 5, 2017
Early infantile epileptic encephalopathy 114Oct 4, 2017
Early infantile epileptic encephalopathy 134Jul 5, 2017
Early infantile epileptic encephalopathy 172Jul 5, 2017
Early infantile epileptic encephalopathy 181Jul 5, 2017
Early infantile epileptic encephalopathy 231Jul 5, 2017
Early infantile epileptic encephalopathy 48Jul 5, 2017
Early infantile epileptic encephalopathy 523Jul 5, 2017
Early infantile epileptic encephalopathy 73Oct 4, 2017
Early infantile epileptic encephalopathy 913Sep 15, 2015
Early myoclonic encephalopathy8Jul 5, 2017
Ehlers-Danlos syndrome, musculocontractural type1Jul 5, 2017
Encephalopathy, neonatal severeMental retardation, X-linked, syndromic 13Rett syndrome3Sep 11, 2014
Epilepsy1Jul 5, 2017
Epilepsy, childhood absence 51Jul 5, 2017
Epilepsy, nocturnal frontal lobe, 51Apr 30, 2014
Epilepsy, nocturnal frontal lobe, type 31Sep 11, 2014
Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg)1Sep 15, 2015
Epilepsy, progressive myoclonic 61Sep 15, 2015
Epileptic encephalopathy, early infantile, 271Jul 5, 2017
Epileptic encephalopathy, early infantile, 331Sep 15, 2015
Episodic ataxia type 24Jul 5, 2017
Ethylmalonic encephalopathy2Jul 5, 2017
Familial infantile myasthenia2Jul 5, 2017
Familial partial lipodystrophy 29Jul 5, 2017
Familial partial lipodystrophy 37Jul 5, 2017
Familial partial lipodystrophy 61Jul 5, 2017
Familial platelet disorder with associated myeloid malignancy2Jul 5, 2017
Fanconi anemia, complementation group A9Oct 4, 2017
Fanconi anemia, complementation group D21Jul 5, 2017
Fanconi anemia, complementation group I1Jul 5, 2017
Fanconi anemia, complementation group L1Jul 5, 2017
Fanconi anemia, complementation group N1Sep 15, 2015
Febrile seizures, familial, 48Sep 11, 2014
Floating-Harbor syndrome3Sep 11, 2014
Fluorouracil response2Jul 5, 2017
Fraser syndrome 12Jul 5, 2017
Freeman-Sheldon syndrome1Sep 15, 2015
GLUT1 deficiency syndrome2Jul 5, 2017
GLUT1 deficiency syndrome 113Sep 15, 2015
Galactosylceramide beta-galactosidase deficiency1Sep 15, 2015
Gaucher's disease, type 11Sep 15, 2015
Generalized epilepsy with febrile seizures plus, type 12Jul 5, 2017
Generalized epilepsy with febrile seizures plus, type 22Apr 30, 2014
Gestational diabetes5Apr 30, 2014
Gilbert's syndrome2Mar 6, 2020
Glucocorticoid deficiency with achalasia1Jul 5, 2017
Glycogen storage disease, type II2Jul 5, 2017
Glycogen storage disease, type IV1Jul 5, 2017
Goldberg-Shprintzen megacolon syndrome2Sep 11, 2014
Gray platelet syndrome2Jul 5, 2017
Greig cephalopolysyndactyly syndrome1Jul 5, 2017
Griscelli syndrome type 22Jul 5, 2017
Hb SS disease1Sep 15, 2015
Hearing impairment25Sep 11, 2014
Hemochromatosis type 12Apr 26, 2018
Hereditary hemorrhagic telangiectasia type 11Jul 5, 2017
Hereditary nonpolyposis colorectal cancer type 41Jul 5, 2017
Hereditary nonpolyposis colorectal cancer type 52Jul 5, 2017
Hereditary spastic paraplegia 181Jul 5, 2017
Hereditary spastic paraplegia 78Oct 4, 2017
Hermansky-Pudlak syndrome 12Jul 5, 2017
Hermansky-Pudlak syndrome 51Jul 5, 2017
Hermansky-Pudlak syndrome 62Jul 5, 2017
Hermansky-Pudlak syndrome 71Jul 5, 2017
Heterotopia90Sep 11, 2014
Heterotopia, periventricular, autosomal recessive1Jul 5, 2017
Histiocytosis-lymphadenopathy plus syndrome4Sep 15, 2015
Holoprosencephaly 51Jul 5, 2017
Hutchinson-Gilford syndrome2Jul 5, 2017
Hydranencephaly with abnormal genitalia1Jul 5, 2017
Hydrocephalus due to aqueductal stenosis6Jul 5, 2017
Hydrocephalus, congenital, 2, with or without brain or eye anomalies1Sep 15, 2015
Hyperbilirubinemia16Sep 15, 2015
Hyperimmunoglobulin D with periodic fever1Jul 5, 2017
Hyperinsulinemia2Sep 15, 2015
Hyperinsulinemic hypoglycemia familial 51Sep 15, 2015
Hyperinsulinemic hypoglycemia, familial, 129Jul 5, 2017
Hyperinsulinism due to HNF4A deficiency3Jul 5, 2017
Hyperinsulinism due to glucokinase deficiency2Jul 5, 2017
Hyperinsulinism-hyperammonemia syndrome4Jul 5, 2017
Hypobetalipoproteinemia4Jul 5, 2017
Hypocalciuric hypercalcemia, familial, type III1Jul 5, 2017
Hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities1Sep 15, 2015
Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1)1Jul 5, 2017
Hypogonadotropic hypogonadism 2 with or without anosmia2Jul 5, 2017
Hypogonadotropic hypogonadism 4 with or without anosmia1Jul 5, 2017
Hypogonadotropic hypogonadism 6 with or without anosmia1Jul 5, 2017
Hypomyelinating leukodystrophy 71Jul 5, 2017
Hypomyelinating leukodystrophy 8, with or without oligodontia and/or hypogonadotropic hypogonadism2Sep 15, 2015
Hypothyroidism, congenital, nongoitrous, 12Jul 5, 2017
Hypothyroidism, congenital, nongoitrous, 21Jul 5, 2017
Insulin-dependent diabetes mellitus secretory diarrhea syndrome3Jul 5, 2017
Intellectual disability, autosomal dominant 94Oct 4, 2017
Iodotyrosyl coupling defect1Jul 5, 2017
Iron accumulation in brain53Sep 11, 2014
Islet cell hyperplasia8Jul 5, 2017
Jalili syndrome1Jul 5, 2017
Joubert syndrome 132Sep 15, 2015
Joubert syndrome 179Jul 5, 2017
Joubert syndrome 213Jul 5, 2017
Joubert syndrome 231Jul 5, 2017
Joubert syndrome 251Jul 5, 2017
Joubert syndrome 32Sep 15, 2015
Joubert syndrome 62Sep 15, 2015
Joubert syndrome 71Sep 15, 2015
Joubert syndrome 94Jul 5, 2017
KBG syndrome2Jul 5, 2017
Kabuki syndrome 182Jul 5, 2017
Kabuki syndrome 24Sep 15, 2015
Kleefstra syndrome 11Jul 5, 2017
Knobloch syndrome 11Sep 15, 2015
L-2-hydroxyglutaric aciduria5Jul 5, 2017
LCHAD Deficiency1Jul 5, 2017
Leigh syndrome due to mitochondrial complex IV deficiency1Jul 5, 2017
Leprechaunism syndrome1Sep 15, 2015
Leukemia, acute myeloid, susceptibility to5Jul 5, 2017
Leukodystrophy, hypomyelinating, 101Jul 5, 2017
Leukodystrophy, hypomyelinating, 21Jul 5, 2017
Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation3Jul 5, 2017
Leukoencephalopathy, cystic, without megalencephaly1Jul 5, 2017
Li-Fraumeni syndrome5Jul 5, 2017
Li-Fraumeni syndrome 11Apr 26, 2018
Limb-girdle muscular dystrophy, type 1B1Sep 15, 2015
Limb-girdle muscular dystrophy, type 2A5Sep 15, 2015
Limb-girdle muscular dystrophy, type 2L1Sep 15, 2015
Limb-girdle muscular dystrophy-dystroglycanopathy, type C22Apr 30, 2014
Lipodystrophy (disease)1Sep 11, 2014
Lissencephaly 2, X-linked22Jul 5, 2017
Lissencephaly 328Oct 4, 2017
Lissencephaly 47Jul 5, 2017
Lissencephaly due to LIS1 mutation97Jul 5, 2017
Lissencephaly, X-linked2Jul 5, 2017
Localized epidermolysis bullosa simplex1Jul 5, 2017
Long QT syndrome 11Sep 15, 2015
Lynch syndrome II1Sep 15, 2015
METHYLMALONIC ACIDURIA, mut(0) TYPE2Jul 5, 2017
MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH SEIZURES1Jul 5, 2017
Macrocephaly/autism syndrome1Sep 15, 2015
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss1Jul 5, 2017
Malformation of the heart and great vessels2Sep 11, 2014
Mandibulofacial dysostosis-microcephaly syndrome4Jul 5, 2017
Maple syrup urine disease type 1A1Jul 5, 2017
Maple syrup urine disease type 1B1Sep 15, 2015
Maple syrup urine disease type 21Sep 15, 2015
Marshall-Smith syndrome3Jul 5, 2017
Maturity-onset diabetes of the young type 43Jul 5, 2017
Maturity-onset diabetes of the young, type 12Jul 5, 2017
Maturity-onset diabetes of the young, type 216Jul 5, 2017
Maturity-onset diabetes of the young, type 35Jul 5, 2017
Meckel syndrome type 12Jul 5, 2017
Meckel syndrome type 63Jul 5, 2017
Meckel syndrome type 82Sep 15, 2015
Meckel syndrome, type 112Jul 5, 2017
Meckel syndrome, type 43Jul 5, 2017
Meckel syndrome, type 91Jul 5, 2017
Meckel-Gruber syndrome11Mar 6, 2020
Meier-Gorlin syndrome 23Sep 15, 2015
Meier-Gorlin syndrome 33Jul 5, 2017
Meier-Gorlin syndrome 41Apr 30, 2014
Meningioma, familial2Sep 15, 2015
Menkes kinky-hair syndrome85Sep 15, 2015
Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance3Sep 11, 2014
Mental retardation and microcephaly with pontine and cerebellar hypoplasia22Jul 5, 2017
Mental retardation with language impairment and with or without autistic features3Oct 4, 2017
Mental retardation, X-linked 12Jul 5, 2017
Mental retardation, X-linked 191Sep 15, 2015
Mental retardation, X-linked 721Jul 5, 2017
Mental retardation, X-linked 982Jul 5, 2017
Mental retardation, autosomal dominant 133Jul 5, 2017
Mental retardation, autosomal dominant 145Jul 5, 2017
Mental retardation, autosomal dominant 151Sep 15, 2015
Mental retardation, autosomal dominant 163Oct 4, 2017
Mental retardation, autosomal dominant 183Jul 5, 2017
Mental retardation, autosomal dominant 191Jul 5, 2017
Mental retardation, autosomal dominant 231Jul 5, 2017
Mental retardation, autosomal dominant 59Jul 5, 2017
Mental retardation, autosomal dominant 77Jul 5, 2017
Mental retardation, autosomal recessive 133Jul 5, 2017
Mental retardation, autosomal recessive 151Sep 15, 2015
Mental retardation, autosomal recessive 271Jul 5, 2017
Mental retardation, autosomal recessive 422Jul 5, 2017
Mental retardation, autosomal recessive 441Jul 5, 2017
Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations5Sep 15, 2015
Mental retardation, syndromic, Claes-Jensen type, X-linked2Sep 15, 2015
Metachromatic leukodystrophy3Jul 5, 2017
Microcephalic osteodysplastic primordial dwarfism type II66Jul 5, 2017
Microcephaly and chorioretinopathy with or without mental retardation2Sep 15, 2015
Microcephaly and chorioretinopathy, autosomal recessive, 32Jul 5, 2017
Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation8Oct 4, 2017
Microcephaly, normal intelligence and immunodeficiency3Jul 5, 2017
Microcephaly, postnatal progressive, with seizures and brain atrophy1Apr 30, 2014
Microcephaly-capillary malformation syndrome7Jul 5, 2017
Mitchell-Riley syndrome1Apr 30, 2014
Mitochondrial DNA depletion syndrome 1 (MNGIE type)1Jul 5, 2017
Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria)1Sep 15, 2015
Mitochondrial complex I deficiency1Jul 5, 2017
Mitochondrial complex III deficiency, nuclear type 21Jul 5, 2017
Mosaic variegated aneuploidy syndrome 11Jul 5, 2017
Mowat-Wilson syndrome25Sep 7, 2018
Multiple endocrine neoplasia, type 11Jul 5, 2017
Multiple endocrine neoplasia, type 2a1Sep 15, 2015
Muscular dystrophy20Jul 5, 2017
Muscular dystrophy, congenital, due to integrin alpha-7 deficiency1Apr 30, 2014
Muscular dystrophy-dystroglycanopathy6Jul 5, 2017
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A31Sep 15, 2015
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 81Jul 5, 2017
Myasthenia, limb-girdle, familial4Jul 5, 2017
Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to5Jul 5, 2017
Myoclonic Epilepsy, Juvenile, 11Sep 15, 2015
Myoclonic dystonia1Jul 5, 2017
Myoclonic epilepsy, familial infantile2Jul 5, 2017
Myofibrillar myopathy 11Jul 5, 2017
Myopathy16Sep 15, 2015
Myopathy, centronuclear13Sep 11, 2014
Myopathy, centronuclear, 25Sep 11, 2014
Nager syndrome4Sep 15, 2015
Nemaline myopathy 28Jul 5, 2017
Nemaline myopathy 3, autosomal dominant or recessive3Jul 5, 2017
Nemaline myopathy 41Jul 5, 2017
Neonatal insulin-dependent diabetes mellitus6Sep 11, 2014
Nephronophthisis 12Jul 5, 2017
Neurodegeneration with brain iron accumulation 2b4Jul 5, 2017
Neurodegeneration with brain iron accumulation 45Jul 5, 2017
Neurodegeneration with brain iron accumulation 55Sep 15, 2015
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant1Jul 5, 2017
Neuroferritinopathy1Sep 11, 2014
Neurofibromatosis, type 11Jul 5, 2017
Neuronal ceroid lipofuscinosis1Jul 5, 2017
Neuronal ceroid lipofuscinosis 11Jul 5, 2017
Neuronal ceroid lipofuscinosis 53Jul 5, 2017
Neuronal ceroid lipofuscinosis 61Sep 15, 2015
Neuronal ceroid lipofuscinosis 81Sep 15, 2015
Neutral 1 amino acid transport defect1Jul 5, 2017
Nicolaides-Baraitser syndrome5Mar 6, 2020
Niemann-Pick disease type C15Jul 5, 2017
Niemann-Pick disease, type A1Sep 15, 2015
Nijmegen breakage syndrome-like disorder1Jul 5, 2017
Noonan syndrome1Jul 5, 2017
Noonan syndrome-like disorder with loose anagen hair 11Sep 15, 2015
Norman-Roberts syndrome5Sep 15, 2015
Obesity, autosomal dominant4Jul 5, 2017
Oculocutaneous albinism type 32Jul 5, 2017
Oculocutaneous albinism type 44Jul 5, 2017
Oculodentodigital dysplasia4Jul 5, 2017
Olivopontocerebellar hypoplasia9Sep 11, 2014
Orofaciodigital syndrome I2Sep 11, 2014
Pancreatic agenesis 13Jul 5, 2017
Pancreatic agenesis and congenital heart disease1Sep 15, 2015
Paragangliomas 41Jul 5, 2017
Peripheral neuropathy1Sep 11, 2014
Permanent neonatal diabetes mellitus7Jul 5, 2017
Peroxisome biogenesis disorders, Zellweger syndrome spectrum1Jul 5, 2017
Persistent truncus arteriosus (disease)1Apr 30, 2014
Pettigrew syndrome3Jul 5, 2017
Pfeiffer syndrome1Jul 5, 2017
Phenylketonuria1Jul 5, 2017
Pheochromocytoma1Sep 15, 2015
Pitt-Hopkins syndrome23Jul 5, 2017
Polymicrogyria with optic nerve hypoplasia1Sep 11, 2014
Polymicrogyria, asymmetric10Jul 5, 2017
Polymicrogyria, bilateral frontoparietal23Sep 15, 2015
Pontocerebellar hypoplasia type 2A3Sep 15, 2015
Pontocerebellar hypoplasia type 2B8Sep 15, 2015
Pontocerebellar hypoplasia type 2C1Sep 11, 2014
Pontocerebellar hypoplasia type 62Jul 5, 2017
Pontocerebellar hypoplasia type 81Sep 15, 2015
Pontocerebellar hypoplasia, type 1b5Jul 5, 2017
Primary autosomal recessive microcephaly 133Mar 6, 2020
Primary autosomal recessive microcephaly 101Sep 15, 2015
Primary autosomal recessive microcephaly 238Jul 5, 2017
Primary autosomal recessive microcephaly 331Sep 15, 2015
Primary autosomal recessive microcephaly 42Jul 5, 2017
Primary autosomal recessive microcephaly 5133Jul 5, 2017
Primary autosomal recessive microcephaly 619Sep 11, 2014
Primary autosomal recessive microcephaly 714Sep 11, 2014
Primary autosomal recessive microcephaly 941Jul 5, 2017
Primary pulmonary hypertension 31Apr 30, 2014
Proopiomelanocortin deficiency1Jul 5, 2017
Pseudo-TORCH syndrome 16Jul 5, 2017
Pseudohermaphroditism male with gynecomastia2Jul 5, 2017
Pseudoxanthoma elasticum2Jul 5, 2017
Pulmonary fibrosis and/or bone marrow failure, telomere-related, 12Jul 5, 2017
Pyruvate carboxylase deficiency1Jul 5, 2017
Pyruvate dehydrogenase E2 deficiency1Jul 5, 2017
Radial aplasia-thrombocytopenia syndrome1Mar 6, 2020
Rett syndrome50Oct 4, 2017
Rett syndrome, congenital variant21Mar 6, 2020
Rhabdoid tumor predisposition syndrome 23Sep 15, 2015
Rhizomelic chondrodysplasia punctata type 16Jul 5, 2017
Rigidity and multifocal seizure syndrome, lethal neonatal2Jul 5, 2017
Roberts-SC phocomelia syndrome8Sep 15, 2015
Robinow syndrome, autosomal dominant 16Oct 4, 2017
Robinow syndrome, autosomal recessive4Sep 11, 2014
Rothmund-Thomson syndrome1Jul 5, 2017
Rubinstein-Taybi syndrome 182Oct 4, 2017
Rubinstein-Taybi syndrome 28Sep 15, 2015
SHORT syndrome2Sep 15, 2015
Sandhoff disease2Jul 5, 2017
Schinzel-Giedion syndrome13Sep 15, 2015
Schizophrenia1Sep 15, 2015
Schuurs-hoeijmakers syndrome1Jul 5, 2017
Seckel syndrome 115Jul 5, 2017
Seckel syndrome 21Apr 30, 2014
Seckel syndrome 49Sep 15, 2015
Seckel syndrome 61Sep 15, 2015
Seckel syndrome 71Sep 15, 2015
Secondary hypothyroidism1Jul 5, 2017
Seizures11Jul 5, 2017
Seizures, benign familial infantile, 33Apr 30, 2014
Senior-Loken syndrome 73Sep 15, 2015
Severe X-linked myotubular myopathy138Jul 5, 2017
Severe congenital neutropenia 4, autosomal recessive1Jul 5, 2017
Short-rib thoracic dysplasia 8 with or without polydactyly1Jul 5, 2017
Shprintzen-Goldberg syndrome1Jul 5, 2017
Shwachman-Diamond syndrome 12Jul 5, 2017
Sialidosis1Jul 5, 2017
Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay1Jul 5, 2017
Simpson-Golabi-Behmel syndrome type 11Sep 15, 2015
Smith-Lemli-Opitz syndrome1Mar 6, 2020
Sotos syndrome 1199Jul 5, 2017
Spastic paraplegia 47, autosomal recessive5Jul 5, 2017
Spastic paraplegia 50, autosomal recessive1Sep 15, 2015
Spinal muscular atrophy, lower extremity-predominant, 2, AD1Sep 15, 2015
Spinocerebellar ataxia 421Jul 5, 2017
Spinocerebellar ataxia type 131Jul 5, 2017
Spinocerebellar ataxia type 142Jul 5, 2017
Spinocerebellar ataxia type 19/221Sep 15, 2015
Spinocerebellar ataxia type 211Jul 5, 2017
Spinocerebellar ataxia type 341Jul 5, 2017
Spinocerebellar ataxia, autosomal recessive 106Jul 5, 2017
Spinocerebellar ataxia, autosomal recessive 163Jul 5, 2017
Spinocerebellar ataxia, autosomal recessive 89Jul 5, 2017
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 22Sep 15, 2015
Subcortical laminar heterotopia, X-linked2Jul 5, 2017
Succinate-semialdehyde dehydrogenase deficiency1Jul 5, 2017
Syndromic mental retardation, Nascimento type, X-linked1Jul 5, 2017
TARP syndrome1Jul 5, 2017
Tay-Sachs disease1Sep 15, 2015
Thrombocytopenia 21Jul 5, 2017
Thrombocytopenia 51Jul 5, 2017
Thyroid hormone resistance syndrome2Jul 5, 2017
Tibial muscular dystrophy4Apr 30, 2014
Transient neonatal diabetes mellitus 22Sep 15, 2015
Treacher Collins syndrome 13Jul 5, 2017
Tumor susceptibility linked to germline BAP1 mutations1Jul 5, 2017
Tyrosinase-negative oculocutaneous albinism38Mar 6, 2020
Tyrosinase-positive oculocutaneous albinism20Mar 6, 2020
Upshaw-Schulman syndrome1Jul 5, 2017
Usher Syndrome, Type III1Sep 15, 2015
Very long chain acyl-CoA dehydrogenase deficiency1Jul 5, 2017
Vici syndrome1Sep 15, 2015
Von Hippel-Lindau syndrome1Jul 5, 2017
Warburg micro syndrome 12Jul 5, 2017
Warburg micro syndrome 21Jul 5, 2017
Weaver syndrome5Sep 15, 2015
White-sutton syndrome1Jul 5, 2017
Wiedemann-Steiner syndrome10Jul 5, 2017
Wilson disease26Mar 6, 2020
Wolcott-Rallison dysplasia2Jul 5, 2017
Wolfram syndrome7Jul 5, 2017
X-linked chondrodysplasia punctata 12Sep 11, 2014
Xeroderma pigmentosum, type F/Cockayne syndrome1Jul 5, 2017
beta Thalassemia1Jul 5, 2017
epileptic encephalopathy, early infanitle, 110Sep 11, 2014
not provided455Oct 4, 2017
not specified11481Mar 6, 2020

Testing in GTR

Disease nameNumber of tests
3 beta-Hydroxysteroid dehydrogenase deficiency1 test
3-M syndrome1 test
3-Methylglutaconic aciduria type 12 tests
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency1 test
3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia1 test
46,XX sex reversal 41 test
46,XX sex reversal, type 11 test
46,XY disorder of sex development2 tests
46,XY disorder of sex development and 46,XY complete gonadal dysgenesis1 test
46,XY gonadal dysgenesis, complete, dhh-related1 test
46,XY gonadal dysgenesis, partial, with minifascicular neuropathy1 test
46,XY sex reversal 81 test
46,XY sex reversal 92 tests
46,XY sex reversal, type 12 tests
46,XY sex reversal, type 21 test
46,XY sex reversal, type 62 tests
46,XY sex reversal, type 72 tests
ADan amyloidosis1 test
Abdominal obesity-metabolic syndrome 32 tests
Acampomelic campomelic dysplasia with autosomal sex reversal1 test
Acquired hemoglobin H disease1 test
Acquired partial lipodystrophy3 tests
Acrocallosal syndrome1 test
Acrodysostosis 1 with or without hormone resistance2 tests
Acrodysostosis 2, with or without hormone resistance2 tests
Acromelic frontonasal dysostosis1 test
Acute myeloid leukemia5 tests
Adenylosuccinate lyase deficiency2 tests
Adrenal hypoplasia, congenital, with precocious puberty1 test
Adrenal insufficiency, congenital, with 46,XY sex reversal, partial or complete2 tests
Adrenoleukodystrophy2 tests
Agenesis of the corpus callosum with peripheral neuropathy1 test
Aicardi Goutieres syndrome1 test
Aicardi-Goutieres syndrome 71 test
Alazami syndrome1 test
Albinism1 test
Albinism, oculocutaneous, type VII1 test
Albright's hereditary osteodystrophy1 test
Alexander Disease1 test
Allan-Herndon-Dudley syndrome4 tests
Alpha mannosidosis type II1 test
Alpha thalassemia-X-linked intellectual disability syndrome4 tests
Alpha thalassemia-mental retardation syndrome1 test
Alpha-B crystallinopathy2 tests
Alpha-methylacyl-CoA racemase deficiency1 test
Alstrom syndrome1 test
Alternating hemiplegia of childhood2 tests
Alzheimer disease, familial, 3, with spastic paraparesis and apraxia1 test
Alzheimer disease, type 31 test
Aminoacylase 1 deficiency1 test
Amish lethal microcephaly1 test
Amyotrophic lateral sclerosis type 11 test
Androgen resistance syndrome2 tests
Anemia without thromobocytopenia, X-linked2 tests
Angelman syndrome7 tests
Aniridia 12 tests
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis1 test
Aplastic anemia1 test
Aqueductal stenosis, X-linked, Hydrocephalus due to congenital stenosis of aqueduct of sylvius, X-Linked Hydrocephalus with Stenosis of the Aqueduct of Sylvius, X-linked hydrocephalus1 test
Argininosuccinate lyase deficiency1 test
Aromatase deficiency2 tests
Aromatase excess syndrome1 test
Arthrogryposis, distal, with impaired proprioception and touch1 test
Arthrogryposis-like hand anomaly-sensorineural deafness syndrome1 test
Asphyxiating thoracic dystrophy 51 test
Ataxia1 test
Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus2 tests
Ataxia-oculomotor apraxia 31 test
Ataxia-oculomotor apraxia 42 tests
Ataxia-oculomotor apraxia type 11 test
Ataxia-pancytopenia syndrome5 tests
Ataxia-telangiectasia syndrome2 tests
Ataxia-telangiectasia-like disorder1 test
Atypical hemolytic uremic syndrome1 test
Autism, susceptibility to, 181 test
Autoimmune disease1 test
Autoimmune disease, multisystem, infantile-onset, 12 tests
Autoimmune lymphoproliferative syndrome type V1 test
Autoimmune lymphoproliferative syndrome, type 1a1 test
Autoimmune lymphoproliferative syndrome, type 1b1 test
Autoimmune lymphoproliferative syndrome, type 2A1 test
Autoimmune polyglandular syndrome type 1, with reversible metaphyseal dysplasia1 test
Autosomal dominant macrothrombocytopenia TUBB1-related1 test
Autosomal dominant polycystic kidney disease1 test
Autosomal dominant torsion dystonia 41 test
Autosomal recessive DOPA responsive dystonia2 tests
Autosomal recessive Dejerine-Sottas syndrome1 test
Autosomal recessive Kenny-Caffey syndrome1 test
Autosomal recessive infantile hypercalcemia1 test
Autosomal recessive limb-girdle muscular dystrophy type 2B2 tests
Autosomal recessive limb-girdle muscular dystrophy type 2D2 tests
Autosomal recessive limb-girdle muscular dystrophy type 2E2 tests
Autosomal recessive limb-girdle muscular dystrophy type 2G2 tests
Autosomal recessive polycystic kidney disease1 test
Azorean disease1 test
Bailey-Bloch congenital myopathy2 tests
Bainbridge-Ropers syndrome1 test
Baller-Gerold syndrome1 test
Bamforth-Lazarus syndrome1 test
Band heterotopia1 test
Baraitser-Winter Syndrome 21 test
Bardet-Biedl syndrome3 tests
Bardet-Biedl syndrome 112 tests
Bardet-Biedl syndrome 131 test
Bardet-Biedl syndrome 61 test
Bartsocas-Papas syndrome1 test
Basal ganglia calcification, idiopathic, 61 test
Beckwith-Wiedemann syndrome2 tests
Benign hereditary chorea1 test
Bernard Soulier syndrome1 test
Beta-hydroxyisobutyryl-CoA deacylase deficiency1 test
Beta-propeller protein-associated neurodegeneration1 test
Bethlem myopathy 12 tests
Bethlem myopathy 22 tests
Bile acid synthesis defect, congenital, 31 test
Biotin-responsive basal ganglia disease2 tests
Biotinidase deficiency1 test
Bloom syndrome2 tests
Bone marrow failure syndrome 11 test
Bone marrow failure syndrome 32 tests
Bone marrow failure syndrome 51 test
Borjeson-Forssman-Lehmann syndrome2 tests
Brain small vessel disease 1 with or without ocular anomalies1 test
Breast and/or ovarian cancer3 tests
Breast cancer, susceptibility to3 tests
Breast neoplasm5 tests
Breast-ovarian cancer, familial 21 test
Breast-ovarian cancer, familial 41 test
Brown-Vialetto-Van Laere syndrome1 test
C syndrome1 test
C3 deficiency1 test
CARASIL1 test
CEDNIK syndrome1 test
CEREBRAL AMYLOID ANGIOPATHY, PRNP-RELATED1 test
CHARGE association4 tests
CHIME syndrome1 test
Campomelic dysplasia with autosomal sex reversal1 test
Carcinoma of colon1 test
Carcinoma of pancreas1 test
Cardiac valvular dysplasia, X-linked1 test
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 21 test
Carney complex1 test
Carney-Stratakis syndrome1 test
Carpenter syndrome1 test
Central core myopathy3 tests
Central hypothyroidism1 test
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency1 test
Cerebellar ataxia and hypergonadotropic hypogonadism1 test
Cerebellar ataxia, Cayman type1 test
Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant1 test
Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 21 test
Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 31 test
Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 41 test
Cerebellar ataxia, nonprogressive, with mental retardation1 test
Cerebral creatine deficiency syndrome2 tests
Cerebral folate transport deficiency2 tests
Cerebroretinal microangiopathy with calcifications and cysts2 tests
Ceroid lipofuscinosis neuronal 21 test
Ceroid lipofuscinosis, neuronal, 111 test
Ceroid lipofuscinosis, neuronal, 131 test
Charcot-Marie-Tooth disease1 test
Charcot-Marie-Tooth disease type 2B11 test
Charlevoix-Saguenay spastic ataxia2 tests
Child syndrome1 test
Cholestanol storage disease2 tests
Chops syndrome2 tests
Choreoacanthocytosis1 test
Choreoathetosis, hypothyroidism, and neonatal respiratory distress1 test
Christianson syndrome3 tests
Chronic mucocutaneous candidiasis1 test
Chédiak-Higashi syndrome1 test
Citrullinemia type I1 test
Classic Hodgkin lymphoma1 test
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency1 test
Cleidocranial dysostosis1 test
Cockayne syndrome1 test
Coenzyme Q10 deficiency, primary1 test
Coenzyme Q10 deficiency, primary, 41 test
Coffin-Siris syndrome1 test
Coffin-Siris syndrome 12 tests
Coffin-Siris syndrome 51 test
Cognitive impairment with or without cerebellar ataxia1 test
Cohen syndrome1 test
Cohen-Gibson syndrome1 test
Cole-Carpenter syndrome 21 test
Colorectal cancer4 tests
Colorectal cancer, susceptibility to, 121 test
Combined T and B cell immunodeficiency1 test
Combined oxidative phosphorylation deficiency1 test
Combined oxidative phosphorylation deficiency 121 test
Combined oxidative phosphorylation deficiency 141 test
Common variable agammaglobulinemia1 test
Common variable immunodeficiency 21 test
Common variable immunodeficiency 8, with autoimmunity2 tests
Complete trisomy 21 syndrome2 tests
Congenital adrenal hyperplasia2 tests
Congenital adrenal hypoplasia, X-linked1 test
Congenital amegakaryocytic thrombocytopenia3 tests
Congenital cataracts-facial dysmorphism-neuropathy syndrome1 test
Congenital cerebellar hypoplasia1 test
Congenital contractural arachnodactyly1 test
Congenital contractures of the limbs and face, hypotonia, and developmental delay2 tests
Congenital defect of folate absorption1 test
Congenital disorder of glycosylation4 tests
Congenital disorder of glycosylation type 1E2 tests
Congenital disorder of glycosylation type 1O2 tests
Congenital disorder of glycosylation type 1Q1 test
Congenital disorder of glycosylation type 1u2 tests
Congenital dyserythropoietic anemia, type II1 test
Congenital generalized lipodystrophy type 13 tests
Congenital generalized lipodystrophy type 24 tests
Congenital hyperammonemia, type I1 test
Congenital muscular dystrophy, LMNA-related2 tests
Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B52 tests
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A23 tests
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A41 test
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A62 tests
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A73 tests
Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B12 tests
Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B22 tests
Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B32 tests
Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B62 tests
Congenital muscular dystrophy-dystroglycanopathy without mental retardation, type B42 tests
Congenital myasthenic syndrome3 tests
Congenital myasthenic syndrome 123 tests
Congenital myasthenic syndrome 133 tests
Congenital myasthenic syndrome 1B, fast-channel1 test
Congenital myasthenic syndrome 4C3 tests
Congenital myasthenic syndrome, acetazolamide-responsive3 tests
Congenital myopathy3 tests
Congenital myopathy with fiber type disproportion2 tests
Contiguous abcd1/dxs1375e deletion syndrome1 test
Contractures, pterygia, and variable skeletal fusions syndrome 1A1 test
Cortical dysplasia, complex, with other brain malformations1 test
Cortical dysplasia, complex, with other brain malformations 11 test
Cortical dysplasia, complex, with other brain malformations 21 test
Cortical dysplasia, complex, with other brain malformations 41 test
Cortical dysplasia, complex, with other brain malformations 62 tests
Cowden syndrome5 tests
Cranioectodermal dysplasia1 test
Cranioectodermal dysplasia 41 test
Craniofrontonasal syndrome3 tests
Craniosynostosis 62 tests
Craniosynostosis and dental anomalies1 test
Craniosynostosis syndrome1 test
Crigler-Najjar syndrome1 test
Cryptophthalmos syndrome1 test
Currarino triad1 test
Curry-Hall syndrome1 test
Cutis laxa1 test
Cyclical neutropenia1 test
Cytochrome c oxidase i deficiency1 test
D-2-hydroxyglutaric aciduria1 test
D-2-hydroxyglutaric aciduria 21 test
DICER1-related pleuropulmonary blastoma cancer predisposition syndrome1 test
DOORS syndrome2 tests
Dandy-Walker syndrome1 test
Danon disease2 tests
De Lange syndrome2 tests
Deafness dystonia syndrome1 test
Deafness, autosomal dominant 11 test
Deafness, autosomal recessive 661 test
Deficiency of aromatic-L-amino-acid decarboxylase1 test
Deficiency of ferroxidase1 test
Deficiency of steroid 11-beta-monooxygenase1 test
Deficiency of steroid 17-alpha-monooxygenase2 tests
Dentatorubral-pallidoluysian atrophy1 test
Desmosterolosis1 test
Developmental delay with short stature, dysmorphic features, and sparse hair1 test
Developmental delay with variable intellectual impairment and behavioral abnormalities1 test
DiGeorge Syndrome1 test
Diabetes mellitus2 tests
Diabetes mellitus, neonatal, with congenital hypothyroidism1 test
Diamond-Blackfan anemia3 tests
Diamond-Blackfan anemia 11 test
Diamond-Blackfan anemia 101 test
Diamond-Blackfan anemia 112 tests
Diamond-Blackfan anemia 122 tests
Diamond-Blackfan anemia 31 test
Diamond-Blackfan anemia 51 test
Diamond-Blackfan anemia 61 test
Diamond-Blackfan anemia 71 test
Diamond-Blackfan anemia 82 tests
Diamond-Blackfan anemia 91 test
Dihydropteridine reductase deficiency1 test
Dilated cardiomyopathy 1A2 tests
Dilated cardiomyopathy 1G1 test
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome1 test
Disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency1 test
Distal arthrogryposis1 test
Distal arthrogryposis type 1A1 test
Distal arthrogryposis type 1B1 test
Distal arthrogryposis type 2B1 test
Distal arthrogryposis type 5D1 test
Donnai-Barrow syndrome1 test
Dopa-responsive dystonia1 test
Drash syndrome3 tests
Dyskeratosis congenita5 tests
Dyskeratosis congenita autosomal recessive 11 test
Dyskeratosis congenita, autosomal dominant 63 tests
Dyskeratosis congenita, autosomal recessive, 52 tests
Dyskinesia, familial, with facial myokymia1 test
Dystonia3 tests
Dystonia 161 test
Dystonia 241 test
Dystonia 251 test
Dystonia 26, myoclonic1 test
Dystonia 28, childhood-onset1 test
Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities2 tests
Dystrophinopathies2 tests
EAST syndrome1 test
Early infantile epileptic encephalopathy 104 tests
Early infantile epileptic encephalopathy 112 tests
Early infantile epileptic encephalopathy 122 tests
Early infantile epileptic encephalopathy 132 tests
Early infantile epileptic encephalopathy 142 tests
Early infantile epileptic encephalopathy 152 tests
Early infantile epileptic encephalopathy 163 tests
Early infantile epileptic encephalopathy 171 test
Early infantile epileptic encephalopathy 182 tests
Early infantile epileptic encephalopathy 23 tests
Early infantile epileptic encephalopathy 212 tests
Early infantile epileptic encephalopathy 42 tests
Early infantile epileptic encephalopathy 52 tests
Early infantile epileptic encephalopathy 72 tests
Early infantile epileptic encephalopathy 82 tests
Early infantile epileptic encephalopathy 93 tests
Early infantile epileptic encephalopathy with suppression bursts4 tests
Early myoclonic encephalopathy2 tests
Ehlers-Danlos syndrome3 tests
Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss2 tests
Ehlers-Danlos syndrome, musculocontractural type3 tests
Eichsfeld type congenital muscular dystrophy2 tests
Emery-Dreifuss muscular dystrophy2 tests
Emery-Dreifuss muscular dystrophy 1, X-linked2 tests
Emery-Dreifuss muscular dystrophy 3, autosomal recessive2 tests
Emery-Dreifuss muscular dystrophy 4, autosomal dominant2 tests
Emery-Dreifuss muscular dystrophy 5, autosomal dominant2 tests
Emery-Dreifuss muscular dystrophy 7, autosomal dominant2 tests
Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum1 test
Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy 11 test
Encephalopathy, progressive, with amyotrophy and optic atrophy1 test
Encephalopathy, progressive, with or without lipodystrophy1 test
Endocrine-cerebroosteodysplasia1 test
Endplate acetylcholinesterase deficiency3 tests
Epilepsy2 tests
Epilepsy, childhood absence 52 tests
Epilepsy, focal, with speech disorder and with or without mental retardation2 tests
Epilepsy, progressive myoclonic 2b1 test
Epilepsy, progressive myoclonic 31 test
Epilepsy, progressive myoclonic 4, with or without renal failure1 test
Epilepsy, progressive myoclonic 51 test
Epilepsy, progressive myoclonic 61 test
Epilepsy, progressive myoclonic 71 test
Epilepsy, progressive myoclonic, 101 test
Epilepsy, progressive myoclonic, 91 test
Epileptic encephalopathy Lennox-Gastaut type1 test
Epileptic encephalopathy, childhood-onset3 tests
Epileptic encephalopathy, early infantile, 11 test
Epileptic encephalopathy, early infantile, 192 tests
Epileptic encephalopathy, early infantile, 242 tests
Epileptic encephalopathy, early infantile, 252 tests
Epileptic encephalopathy, early infantile, 262 tests
Epileptic encephalopathy, early infantile, 272 tests
Epileptic encephalopathy, early infantile, 283 tests
Epileptic encephalopathy, early infantile, 291 test
Epileptic encephalopathy, early infantile, 312 tests
Epileptic encephalopathy, early infantile, 322 tests
Epileptic encephalopathy, early infantile, 441 test
Epileptic encephalopathy, early infantile, 511 test
Episodic ataxia1 test
Ethylmalonic encephalopathy3 tests
Exercise-induced hyperinsulinism1 test
Exudative vitreoretinopathy 71 test
FG syndrome 13 tests
FG syndrome 21 test
Facial dysmorphism, immunodeficiency, livedo, and short stature1 test
Familial adenomatous polyposis 12 tests
Familial cancer of breast5 tests
Familial hemiplegic migraine1 test
Familial hemophagocytic lymphohistiocytosis1 test
Familial hyperinsulinism2 tests
Familial hyperkalemic periodic paralysis1 test
Familial hypertrophic cardiomyopathy 91 test
Familial infantile myasthenia1 test
Familial isolated deficiency of vitamin E1 test
Familial isolated hypoparathyroidism1 test
Familial multiple polyposis syndrome3 tests
Familial partial lipodystrophy3 tests
Familial partial lipodystrophy 13 tests
Familial partial lipodystrophy 23 tests
Familial partial lipodystrophy 33 tests
Familial partial lipodystrophy 62 tests
Familial platelet disorder with associated myeloid malignancy1 test
Familial thoracic aortic aneurysm and aortic dissection1 test
Fanconi anemia3 tests
Fanconi anemia, complementation group A1 test
Fanconi anemia, complementation group B1 test
Fanconi anemia, complementation group C1 test
Fanconi anemia, complementation group D11 test
Fanconi anemia, complementation group D21 test
Fanconi anemia, complementation group E1 test
Fanconi anemia, complementation group F1 test
Fanconi anemia, complementation group G1 test
Fanconi anemia, complementation group I1 test
Fanconi anemia, complementation group J2 tests
Fanconi anemia, complementation group L1 test
Fanconi anemia, complementation group N4 tests
Fanconi anemia, complementation group O3 tests
Fanconi anemia, complementation group P1 test
Fanconi anemia, complementation group Q1 test
Fanconi anemia, complementation group R2 tests
Fanconi anemia, complementation group S1 test
Fanconi anemia, complementation group T2 tests
Fanconi anemia, complementation group U1 test
Feingold syndrome1 test
Floating-Harbor syndrome1 test
Fragile X tremor/ataxia syndrome1 test
Freeman-Sheldon syndrome1 test
Friedreich ataxia 12 tests
Friedreich ataxia 21 test
Friedreich's ataxia2 tests
Frontometaphyseal dysplasia1 test
Frontonasal dysplasia 12 tests
Frontonasal dysplasia 21 test
Frontonasal dysplasia 31 test
Frontotemporal dementia and/or amyotrophic lateral sclerosis 22 tests
Fucosidosis1 test
Fumarase deficiency1 test
GLUT1 deficiency syndrome 13 tests
GLUT1 deficiency syndrome 22 tests
GM1 gangliosidosis1 test
GM1 gangliosidosis type 31 test
GM2-gangliosidosis, B, B1, AB variant1 test
GNE myopathy2 tests
Galactosialidosis, adult1 test
Galactosylceramide beta-galactosidase deficiency1 test
Galloway-Mowat syndrome 11 test
Gamma-glutamylcysteine synthetase deficiency, hemolytic anemia due to1 test
Gastrointestinal stromal tumor1 test
Gaucher disease, atypical, due to saposin C deficiency1 test
Generalized epilepsy with febrile seizures plus, type 23 tests
Generalized juvenile polyposis/juvenile polyposis coli3 tests
Giant axonal neuropathy 11 test
Gilbert's syndrome1 test
Glanzmann thrombasthenia1 test
Glioma susceptibility 95 tests
Glucocorticoid deficiency with achalasia1 test
Glutaric aciduria, type 11 test
Glutathione synthetase deficiency of erythrocytes, hemolytic anemia due to1 test
Glycogen storage disease2 tests
Glycogen storage disease, type II2 tests
Glycogen storage disease, type IV1 test
Glycogen storage disease, type V2 tests
Goldberg-Shprintzen megacolon syndrome2 tests
Gordon Holmes syndrome1 test
Gray platelet syndrome1 test
Greig cephalopolysyndactyly syndrome2 tests
Griscelli syndrome type 11 test
Griscelli syndrome type 21 test
Griscelli syndrome type 31 test
Grn-related frontotemporal lobar degeneration with Tdp43 inclusions1 test
Hand-foot-genital syndrome1 test
Hecht syndrome1 test
Helsmoortel-Van der Aa Syndrome2 tests
Hemolytic anemia1 test
Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency1 test
Hemolytic-uremic syndrome1 test
Hemophagocytic lymphohistiocytosis, familial, 51 test
Hereditary Paraganglioma-Pheochromocytoma Syndromes2 tests
Hereditary acrodermatitis enteropathica1 test
Hereditary amyloidosis1 test
Hereditary breast and ovarian cancer syndrome9 tests
Hereditary diffuse gastric cancer3 tests
Hereditary diffuse leukoencephalopathy with spheroids1 test
Hereditary hemorrhagic telangiectasia1 test
Hereditary hyperferritinemia with congenital cataracts1 test
Hereditary melanoma2 tests
Hereditary mixed polyposis syndrome 11 test
Hereditary nonpolyposis colon cancer7 tests
Hereditary nonpolyposis colorectal cancer type 61 test
Hereditary sideroblastic anemia2 tests
Hereditary spastic paraplegia1 test
Hereditary spastic paraplegia 261 test
Hermansky-Pudlak syndrome1 test
Heterotopia, periventricular, autosomal recessive1 test
Holocarboxylase synthetase deficiency1 test
Holoprosencephaly sequence1 test
Homocystinuria1 test
Hoyeraal-Hreidarsson syndrome1 test
Hydrocephalus1 test
Hydrolethalus syndrome 21 test
Hyper-IgE recurrent infection syndrome 3, autosomal recessive1 test
Hyperinsulinemic hypoglycemia familial 51 test
Hyperinsulinemic hypoglycemia, familial, 11 test
Hyperinsulinemic hypoglycemia, familial, 41 test
Hyperinsulinism due to glucokinase deficiency2 tests
Hyperinsulinism-hyperammonemia syndrome1 test
Hypermanganesemia with dystonia 11 test
Hypermanganesemia with dystonia 21 test
Hyperparathyroidism1 test
Hyperphenylalaninemia, BH4-deficient, D1 test
Hyperphenylalaninemia, bh4-deficient, a, due to partial pts deficiency2 tests
Hyperphenylalaninemia, mild, non-bh4-deficient1 test
Hypertensive disorder1 test
Hypertrichosis cubiti-short stature syndrome1 test
Hypertrophic cardiomyopathy2 tests
Hypobetalipoproteinemia1 test
Hypocalcemia1 test
Hypocalcemia, autosomal dominant, with bartter syndrome1 test
Hypocalciuric hypercalcemia, familial, type 11 test
Hypocalciuric hypercalcemia, familial, type II1 test
Hypoceruloplasminemia2 tests
Hypoglycemia, neonatal, simulating foetopathia diabetica3 tests
Hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities1 test
Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1)2 tests
Hypogonadotropic hypogonadism 10 with or without anosmia1 test
Hypogonadotropic hypogonadism 11 with or without anosmia1 test
Hypogonadotropic hypogonadism 12 with or without anosmia1 test
Hypogonadotropic hypogonadism 14 with or without anosmia1 test
Hypogonadotropic hypogonadism 16 with or without anosmia2 tests
Hypogonadotropic hypogonadism 18 with or without anosmia2 tests
Hypogonadotropic hypogonadism 2 with or without anosmia1 test
Hypogonadotropic hypogonadism 20 with or without anosmia1 test
Hypogonadotropic hypogonadism 22 with or without anosmia2 tests
Hypogonadotropic hypogonadism 7 with or without anosmia2 tests
Hypogonadotropic hypogonadism 8 with or without anosmia2 tests
Hypogonadotropic hypogonadism 9 with or without anosmia2 tests
Hypomyelinating leukodystrophy1 test
Hypoparathyroidism1 test
Hypoparathyroidism-retardation-dysmorphism syndrome1 test
Hypophosphatemic rickets2 tests
Hypospadias 2, X-linked1 test
Hypothyroidism, congenital, nongoitrous, 21 test
Hypotonia, ataxia, and delayed development syndrome1 test
Ichthyosis, spastic quadriplegia, and mental retardation1 test
Idiopathic Pulmonary Fibrosis2 tests
Idiopathic basal ganglia calcification 11 test
Immunodeficiency 11b with atopic dermatitis1 test
Immunodeficiency 141 test
Immunodeficiency 231 test
Immunodeficiency, X-Linked, with magnesium defect, Epstein-Barr virus infection, and neoplasia1 test
Immunodeficiency, common variable, 134 tests
Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia2 tests
Infantile cerebellar-retinal degeneration1 test
Infantile convulsions and choreoathetosis1 test
Infantile dystonia-parkinsonism1 test
Infantile neuroaxonal dystrophy2 tests
Infantile onset spinocerebellar ataxia1 test
Infantile-onset ascending hereditary spastic paralysis2 tests
Inherited bone marrow failure syndrome1 test
Insulin-dependent diabetes mellitus secretory diarrhea syndrome1 test
Insulin-resistant diabetes mellitus AND acanthosis nigricans1 test
Intellectual disability1 test
Intellectual disability, profound4 tests
Intellectual disability-cataracts-calcified pinnae-myopathy syndrome2 tests
Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked1 test
Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies2 tests
Irinotecan response1 test
Islet cell hyperplasia1 test
Isolated sulfite oxidase deficiency2 tests
Johanson-Blizzard syndrome2 tests
Joubert syndrome4 tests
Joubert syndrome 11 test
Joubert syndrome 102 tests
Joubert syndrome 131 test
Joubert syndrome 141 test
Joubert syndrome 152 tests
Joubert syndrome 161 test
Joubert syndrome 171 test
Joubert syndrome 183 tests
Joubert syndrome 21 test
Joubert syndrome 201 test
Joubert syndrome 212 tests
Joubert syndrome 221 test
Joubert syndrome 231 test
Joubert syndrome 31 test
Joubert syndrome 41 test
Joubert syndrome 51 test
Joubert syndrome 61 test
Joubert syndrome 71 test
Joubert syndrome 81 test
Joubert syndrome 91 test
Juberg-Marsidi syndrome1 test
Juvenile (Subacute) Hexosaminidase A Deficiency1 test
Juvenile myelomonocytic leukemia1 test
Juvenile myoclonic epilepsy2 tests
KBG syndrome2 tests
Kabuki syndrome2 tests
Kabuki syndrome 11 test
Kenny-Caffey syndrome type 21 test
Keppen-Lubinsky syndrome3 tests
Kleefstra syndrome 11 test
Knobloch syndrome 11 test
Kohlschutter's syndrome1 test
Kufor-Rakeb syndrome3 tests
L-2-hydroxyglutaric aciduria3 tests
LEOPARD syndrome 11 test
Leigh syndrome2 tests
Leptin deficiency or dysfunction1 test
Leptin receptor deficiency1 test
Lesch-Nyhan syndrome1 test
Lethal osteosclerotic bone dysplasia1 test
Leukemia, acute lymphoblastic, susceptibility to1 test
Leukemia, acute lymphoblastic, susceptibility to, 31 test
Leukodystrophy1 test
Leukoencephalopathy1 test
Leukoencephalopathy with ataxia1 test
Leukoencephalopathy with dystonia and motor neuropathy1 test
Leukoencephalopathy with vanishing white matter1 test
Leukoencephalopathy, cystic, without megalencephaly1 test
Leukoencephalopathy, progressive, with ovarian failure2 tests
Leydig cell hypoplasia, type 12 tests
Leydig cell hypoplasia, type II1 test
Li-Fraumeni syndrome8 tests
Li-Fraumeni syndrome 21 test
Li-Fraumeni-like syndrome1 test
Lichtenstein-knorr syndrome1 test
Lig4 syndrome3 tests
Limb-girdle muscular dystrophy3 tests
Limb-girdle muscular dystrophy, type 1B2 tests
Limb-girdle muscular dystrophy, type 1E2 tests
Limb-girdle muscular dystrophy, type 1G2 tests
Limb-girdle muscular dystrophy, type 2A2 tests
Limb-girdle muscular dystrophy, type 2J3 tests
Limb-girdle muscular dystrophy, type 2L2 tests
Limb-girdle muscular dystrophy, type 2Q2 tests
Limb-girdle muscular dystrophy, type 2S2 tests
Limb-girdle muscular dystrophy-dystroglycanopathy, type C12 tests
Limb-girdle muscular dystrophy-dystroglycanopathy, type C22 tests
Limb-girdle muscular dystrophy-dystroglycanopathy, type C32 tests
Limb-girdle muscular dystrophy-dystroglycanopathy, type C92 tests
Limb-girdle myasthenia, autoimmune1 test
Linear skin defects with multiple congenital anomalies 13 tests
Lipodystrophy, congenital generalized, type 34 tests
Lipodystrophy, congenital generalized, type 42 tests
Lipoyltransferase 1 deficiency1 test
Lissencephaly2 tests
Lissencephaly 2, X-linked2 tests
Lissencephaly 42 tests
Lissencephaly 51 test
Lissencephaly 6, with microcephaly2 tests
Lissencephaly 7 with cerebellar hypoplasia1 test
Lissencephaly 81 test
Loeys-Dietz syndrome 21 test
Luscan-lumish syndrome1 test
Lymphoma1 test
Lymphoma, Non-Hodgkin, Familial1 test
Lymphoproliferative syndrome 11 test
Lymphoproliferative syndrome 1, X-linked1 test
Lymphoproliferative syndrome 21 test
MEHMO syndrome1 test
MENTAL RETARDATION, X-LINKED, SYNDROMIC, 352 tests
MERRF syndrome1 test
MYH-associated polyposis3 tests
Macrocephalus1 test
Macrocephaly, alopecia, cutis laxa, and scoliosis1 test
Macrocephaly, dysmorphic facies, and psychomotor retardation1 test
Macrocephaly, macrosomia, facial dysmorphism syndrome1 test
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss1 test
Malignant hyperthermia susceptibility1 test
Malignant hyperthermia, susceptibility to, 12 tests
Malignant tumor of esophagus1 test
Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome3 tests
Mandibuloacral dysplasia with type B lipodystrophy3 tests
Mandibulofacial dysostosis-microcephaly syndrome2 tests
Maple syrup urine disease1 test
Marfan lipodystrophy syndrome3 tests
Marinesco-Sjögren syndrome3 tests
Marshall-Smith syndrome1 test
Mast syndrome2 tests
Maturity onset diabetes mellitus in young2 tests
Maturity-onset diabetes of the young type 41 test
Maturity-onset diabetes of the young type 61 test
Maturity-onset diabetes of the young type 71 test
Maturity-onset diabetes of the young type 81 test
Maturity-onset diabetes of the young type 91 test
Maturity-onset diabetes of the young, type 11 test
Maturity-onset diabetes of the young, type 101 test
Maturity-onset diabetes of the young, type 111 test
Maturity-onset diabetes of the young, type 22 tests
Maturity-onset diabetes of the young, type 31 test
McKusick-Kaufman syndrome1 test
McLeod neuroacanthocytosis syndrome1 test
Meckel syndrome 122 tests
Meckel syndrome type 12 tests
Meckel syndrome type 62 tests
Meckel syndrome type 71 test
Meckel syndrome type 82 tests
Meckel syndrome, type 102 tests
Meckel syndrome, type 111 test
Meckel syndrome, type 21 test
Meckel syndrome, type 31 test
Meckel syndrome, type 42 tests
Meckel syndrome, type 52 tests
Meckel syndrome, type 92 tests
Meckel-Gruber syndrome4 tests
Medullary cystic kidney disease 11 test
Megaconial type congenital muscular dystrophy3 tests
Megalencephalic leukoencephalopathy with subcortical cysts3 tests
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 11 test
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness1 test
Meier-Gorlin syndrome2 tests
Meier-Gorlin syndrome 21 test
Meier-Gorlin syndrome 31 test
Meier-Gorlin syndrome 41 test
Meier-Gorlin syndrome 51 test
Meier-gorlin syndrome 71 test
Melanoma2 tests
Melanoma, cutaneous malignant, susceptibility to, 103 tests
Melnick-Needles syndrome1 test
Menkes kinky-hair syndrome1 test
Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance3 tests
Mental retardation and microcephaly with pontine and cerebellar hypoplasia4 tests
Mental retardation, CASK-related, X-linked2 tests
Mental retardation, X-linked 982 tests
Mental retardation, X-linked, syndromic 341 test
Mental retardation, X-linked, syndromic, Bain type1 test
Mental retardation, autosomal dominant 12 tests
Mental retardation, autosomal dominant 132 tests
Mental retardation, autosomal dominant 191 test
Mental retardation, autosomal dominant 271 test
Mental retardation, autosomal dominant 351 test
Mental retardation, autosomal dominant 401 test
Mental retardation, autosomal dominant 421 test
Mental retardation, autosomal dominant 431 test
Mental retardation, autosomal dominant 52 tests
Mental retardation, autosomal dominant 74 tests
Mental retardation, autosomal recessive 132 tests
Mental retardation, autosomal recessive 341 test
Mental retardation, autosomal recessive 382 tests
Mental retardation, autosomal recessive 432 tests
Mental retardation, autosomal recessive 461 test
Mental retardation, autosomal recessive 531 test
Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations1 test
Mental retardation, syndromic, Claes-Jensen type, X-linked1 test
Mental retardation, with or without seizures, ARX-related, X-linked1 test
Merosin deficient congenital muscular dystrophy3 tests
Metachromatic leukodystrophy2 tests
Metaphyseal chondrodysplasia, Jansen type1 test
Methemoglobinemia type 42 tests
Methylmalonic acidemia1 test
Methylmalonic aciduria, cblD type, variant 21 test
Mevalonic aciduria1 test
Microcephalic osteodysplastic primordial dwarfism type II2 tests
Microcephaly 17, primary, autosomal recessive2 tests
Microcephaly and chorioretinopathy, autosomal recessive, 11 test
Microcephaly and chorioretinopathy, autosomal recessive, 22 tests
Microcephaly and chorioretinopathy, autosomal recessive, 31 test
Microcephaly with Polymicrogyria1 test
Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation1 test
Microcephaly, epilepsy, and diabetes syndrome1 test
Microcephaly, normal intelligence and immunodeficiency1 test
Microcephaly, postnatal progressive, with seizures and brain atrophy1 test
Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy1 test
Microcephaly, short stature, and impaired glucose metabolism 13 tests
Microcephaly, short stature, and impaired glucose metabolism 22 tests
Microcephaly, short stature, and polymicrogyria with or without seizures1 test
Microcephaly-capillary malformation syndrome1 test
Microphthalmia with brain and digit anomalies1 test
Miller syndrome1 test
Minicore myopathy with external ophthalmoplegia3 tests
Mirage syndrome4 tests
Mitochondrial DNA depletion syndrome 1 (MNGIE type)1 test
Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)1 test
Mitochondrial DNA depletion syndrome 8B (MNGIE type)1 test
Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria)1 test
Mitochondrial complex I deficiency1 test
Mitochondrial complex II deficiency1 test
Mitochondrial complex III deficiency1 test
Mitochondrial diseases2 tests
Mitochondrial short-chain enoyl-coa hydratase 1 deficiency1 test
Mitochondrial trifunctional protein deficiency1 test
Monogenic Non-Syndromic Obesity, Autosomal Recessive1 test
Mowat-Wilson syndrome4 tests
Muir-Torré syndrome4 tests
Mullerian aplasia and hyperandrogenism2 tests
Multiminicore Disease2 tests
Multiple congenital anomalies-hypotonia-seizures syndrome 21 test
Multiple endocrine neoplasia, type 13 tests
Multiple endocrine neoplasia, type 23 tests
Multiple endocrine neoplasia, type 2a1 test
Multiple endocrine neoplasia, type 41 test
Multiple self-healing squamous epithelioma1 test
Multiple sulfatase deficiency1 test
Muscular dystrophy, congenital, due to integrin alpha-7 deficiency2 tests
Muscular dystrophy, limb-girdle, type 2R2 tests
Muscular dystrophy-dystroglycanopathy3 tests
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13 tests
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A31 test
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 102 tests
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 113 tests
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 123 tests
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 133 tests
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 142 tests
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 81 test
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 93 tests
Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 143 tests
Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 122 tests
Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 142 tests
Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 72 tests
Muscular hypotonia1 test
Myasthenia, limb-girdle, familial2 tests
Myasthenic syndrome, congenital, 143 tests
Myasthenic syndrome, congenital, 151 test
Myasthenic syndrome, congenital, 181 test
Myasthenic syndrome, congenital, 192 tests
Myasthenic syndrome, congenital, 4a, slow-channel2 tests
Myasthenic syndrome, congenital, 7, presynaptic2 tests
Myasthenic syndrome, congenital, 82 tests
Myasthenic syndrome, slow-channel congenital1 test
Myelodysplasia2 tests
Myelodysplastic syndrome4 tests
Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to1 test
Myoclonic epilepsy, familial infantile3 tests
Myoclonic-atonic epilepsy1 test
Myoclonus, familial 11 test
Myofibrillar myopathy2 tests
Myofibrillar myopathy 12 tests
Myofibrillar myopathy 32 tests
Myofibrillar myopathy, BAG3-related2 tests
Myofibrillar myopathy, ZASP-related2 tests
Myofibrillar myopathy, filamin C-related2 tests
Myopathy with extrapyramidal signs1 test
Myopathy, areflexia, respiratory distress, and dysphagia, early-onset2 tests
Myopathy, centronuclear, 13 tests
Myopathy, centronuclear, 21 test
Myopathy, centronuclear, 33 tests
Myopathy, centronuclear, 43 tests
Myopathy, centronuclear, 52 tests
Myopathy, congenital, compton-north3 tests
Myopathy, congenital, with excess of muscle spindles3 tests
Myopathy, congenital, with fiber-type disproportion, X-linked1 test
Myopathy, distal, 12 tests
Myopathy, early-onset, with fatal cardiomyopathy1 test
Myopathy, myofibrillar, 71 test
Myopathy, myofibrillar, 9, with early respiratory failure3 tests
Myopathy, proximal, and ophthalmoplegia2 tests
Myopathy, tubular aggregate, 22 tests
Myosin storage myopathy1 test
N-acetylaspartate deficiency1 test
Nager syndrome1 test
Navajo neurohepatopathy1 test
Nemaline myopathy2 tests
Nemaline myopathy 11 test
Nemaline myopathy 103 tests
Nemaline myopathy 23 tests
Nemaline myopathy 33 tests
Nemaline myopathy 43 tests
Nemaline myopathy 51 test
Nemaline myopathy 63 tests
Nemaline myopathy 73 tests
Nemaline myopathy 81 test
Nemaline myopathy 91 test
Neonatal diabetes mellitus3 tests
Nephronophthisis3 tests
Nephronophthisis 121 test
Nephronophthisis 141 test
Nephronophthisis 151 test
Nephronophthisis 161 test
Nephronophthisis 181 test
Nephronophthisis 191 test
Nephrotic syndrome2 tests
Neu-Laxova syndrome 11 test
Neuroblastoma1 test
Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset1 test
Neurodegeneration with brain iron accumulation3 tests
Neurodegeneration with brain iron accumulation 41 test
Neurodegeneration with brain iron accumulation 52 tests
Neuroferritinopathy1 test
Neurofibromatosis, type 11 test
Neurofibromatosis, type 21 test
Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset1 test
Neuromuscular disease, congenital, with uniform type 1 fiber1 test
Neuronal ceroid lipofuscinosis2 tests
Neuronal ceroid lipofuscinosis 11 test
Neuronal ceroid lipofuscinosis 101 test
Neuronal ceroid lipofuscinosis 31 test
Neuronal ceroid lipofuscinosis 4B1 test
Neuronal ceroid lipofuscinosis 51 test
Neuronal ceroid lipofuscinosis 61 test
Neuronal ceroid lipofuscinosis 71 test
Neuronal ceroid lipofuscinosis 81 test
Neuropathy, congenital hypomyelinating, autosomal dominant1 test
Neuropathy, hereditary motor and sensory, type 6B1 test
Neutral 1 amino acid transport defect1 test
Neutropenia, nonimmune chronic idiopathic, of adults1 test
Nicolaides-Baraitser syndrome2 tests
Non-syndromic X-linked intellectual disability1 test
Noonan syndrome1 test
Noonan syndrome 11 test
Noonan syndrome-like disorder with loose anagen hair 21 test
Norman-Roberts syndrome1 test
Obesity2 tests
Obesity, hyperphagia, and developmental delay1 test
Ocular albinism, type I1 test
Oculocutaneous albinism1 test
Oculodentodigital dysplasia2 tests
Oculofaciocardiodental syndrome1 test
Opitz GBBB syndrome, type II1 test
Optic atrophy1 test
Optic atrophy 10 with or without ataxia, mental retardation, and seizures1 test
Optic atrophy 111 test
Ornithine carbamoyltransferase deficiency1 test
Orofacial-digital syndrome IV1 test
Orofaciodigital syndrome I2 tests
Osteocraniostenosis1 test
Osteodysplastic primordial dwarfism, type 11 test
Oto-palato-digital syndrome, type I1 test
Oto-palato-digital syndrome, type II1 test
Ovarian cancer3 tests
Ovarian dysgenesis 12 tests
Ovarian dysgenesis 22 tests
Ovarian dysgenesis 33 tests
PTEN hamartoma tumor syndrome4 tests
Palmoplantar hyperkeratosis and true hermaphroditism1 test
Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,XX sex reversal2 tests
Pancreatic agenesis 11 test
Paragangliomas 12 tests
Paragangliomas 22 tests
Paragangliomas 32 tests
Paragangliomas 42 tests
Paragangliomas 51 test
Paris-Trousseau thrombocytopenia1 test
Parkinson disease1 test
Paroxysmal non-kinesigenic dyskinesia2 tests
Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy1 test
Partial adenosine deaminase deficiency1 test
Partial androgen insensitivity syndrome2 tests
Paternal uniparental disomy of chromosome 141 test
Pelizaeus-Merzbacher disease2 tests
Pelviscapular dysplasia1 test
Pendred syndrome1 test
Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease1 test
Periventricular heterotopia with microcephaly2 tests
Periventricular nodular heterotopia 11 test
Peroxisome biogenesis disorders1 test
Perrault syndrome 11 test
Perrault syndrome 31 test
Persistent Mullerian duct syndrome1 test
Peters plus syndrome3 tests
Pettigrew syndrome1 test
Peutz-Jeghers syndrome5 tests
Pheochromocytoma2 tests
Phosphoglycerate kinase 1 deficiency1 test
Phosphoribosylpyrophosphate synthetase superactivity1 test
Pitt-Hopkins syndrome4 tests
Pitt-Hopkins-like syndrome 11 test
Pitt-Hopkins-like syndrome 21 test
Pituitary hormone deficiency, combined1 test
Platelet-type bleeding disorder 151 test
Platelet-type bleeding disorder 161 test
Platelet-type bleeding disorder 171 test
Platelet-type bleeding disorder 191 test
Platelet-type bleeding disorder 201 test
Poikiloderma with neutropenia2 tests
Polyarteritis nodosa, childhoood-onset1 test
Polyendocrine-polyneuropathy syndrome1 test
Polymicrogyria, bilateral frontoparietal2 tests
Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract1 test
Pontocerebellar hypoplasia type 21 test
Pontoneocerebellar hypoplasia1 test
Popliteal pterygium syndrome1 test
Poretti-Boltshauser syndrome1 test
Posterior column ataxia-retinitis pigmentosa syndrome1 test
Prader-Willi syndrome4 tests
Premature ovarian failure2 tests
Premature ovarian failure 32 tests
Premature ovarian failure 52 tests
Premature ovarian failure 62 tests
Premature ovarian failure 72 tests
Premature ovarian failure 92 tests
Primary Familial Brain Calcification 51 test
Primary aldosteronism, seizures, and neurologic abnormalities1 test
Primary autosomal recessive microcephaly1 test
Primary autosomal recessive microcephaly 11 test
Primary autosomal recessive microcephaly 101 test
Primary autosomal recessive microcephaly 131 test
Primary autosomal recessive microcephaly 141 test
Primary autosomal recessive microcephaly 151 test
Primary autosomal recessive microcephaly 22 tests
Primary autosomal recessive microcephaly 31 test
Primary autosomal recessive microcephaly 41 test
Primary autosomal recessive microcephaly 52 tests
Primary autosomal recessive microcephaly 61 test
Primary autosomal recessive microcephaly 72 tests
Primary autosomal recessive microcephaly 81 test
Primary autosomal recessive microcephaly 91 test
Progressive external ophthalmoplegia3 tests
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 21 test
Progressive myoclonic epilepsy1 test
Proopiomelanocortin deficiency1 test
Protoporphyria, erythropoietic, X-linked1 test
Pseudohermaphroditism male with gynecomastia1 test
Pseudohypoparathyroidism2 tests
Pseudohypoparathyroidism type 1B1 test
Pseudohypoparathyroidism type 1C1 test
Pseudopseudohypoparathyroidism2 tests
Pulmonary fibrosis and/or bone marrow failure, telomere-related1 test
Pulmonary fibrosis and/or bone marrow failure, telomere-related, 42 tests
Pure gonadal dysgenesis 46,XY1 test
Purine-nucleoside phosphorylase deficiency1 test
Pyridoxine-dependent epilepsy2 tests
Pyruvate dehydrogenase complex deficiency2 tests
Radial aplasia-thrombocytopenia syndrome2 tests
Radioulnar synostosis with amegakaryocytic thrombocytopenia1 test
Rasopathy1 test
Refsum disease, adult, 11 test
Renal dysplasia1 test
Renal dysplasia and retinal aplasia1 test
Renpenning syndrome 11 test
Retinitis pigmentosa 711 test
Rett syndrome5 tests
Rett syndrome, congenital variant3 tests
Rhabdoid tumor predisposition syndrome 21 test
Rhizomelic chondrodysplasia punctata type 11 test
Rhizomelic chondrodysplasia punctata type 21 test
Rhizomelic chondrodysplasia punctata type 31 test
Riddle syndrome1 test
Rigidity and multifocal seizure syndrome, lethal neonatal1 test
Rippling muscle disease 22 tests
Roberts-SC phocomelia syndrome3 tests
Robinow syndrome1 test
Robinow syndrome, autosomal recessive3 tests
Rubinstein-Taybi syndrome2 tests
Rubinstein-Taybi syndrome 21 test
Russell-Silver syndrome1 test
SHORT syndrome4 tests
Saldino-Mainzer syndrome1 test
Salla disease1 test
Salt and pepper developmental regression syndrome2 tests
Sandhoff disease1 test
Sarcotubular myopathy2 tests
Schaaf-Yang syndrome2 tests
Schinzel phocomelia syndrome1 test
Schinzel-Giedion syndrome2 tests
Sclerosteosis 21 test
Seckel syndrome2 tests
Seckel syndrome 21 test
Seckel syndrome 42 tests
Seckel syndrome 52 tests
Seckel syndrome 61 test
Seckel syndrome 71 test
Seckel syndrome 81 test
Seizures, benign familial infantile, 31 test
Seizures, benign familial infantile, 51 test
Seizures, benign familial neonatal, 31 test
Senior-Loken syndrome 81 test
Sensorineural deafness with mild renal dysfunction1 test
Severe X-linked myotubular myopathy3 tests
Severe combined immunodeficiency due to ADA deficiency1 test
Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation1 test
Severe congenital neutropenia3 tests
Severe myoclonic epilepsy in infancy1 test
Shashi-Pena syndrome1 test
Short rib-polydactyly syndrome, Majewski type1 test
Short stature with microcephaly and distinctive facies2 tests
Short stature, brachydactyly, intellectual developmental disability, and seizures1 test
Short stature, microcephaly, and endocrine dysfunction1 test
Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis1 test
Short-rib thoracic dysplasia 10 with or without polydactyly1 test
Short-rib thoracic dysplasia 14 with polydactyly1 test
Short-rib thoracic dysplasia 3 with or without polydactyly2 tests
Short-rib thoracic dysplasia 8 with or without polydactyly1 test
Shprintzen-Goldberg syndrome1 test
Shwachman syndrome2 tests
Sialidosis type I1 test
Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay1 test
Sifrim-Hitz-Weiss syndrome1 test
Simpson-Golabi-Behmel syndrome type 11 test
Simpson-Golabi-Behmel syndrome, type 21 test
Sitosterolemia1 test
Smith-Kingsmore syndrome1 test
Smith-Lemli-Opitz syndrome2 tests
Sotos syndrome2 tests
Sotos syndrome 21 test
Spastic ataxia2 tests
Spastic ataxia 5, autosomal recessive1 test
Spastic paraplegia2 tests
Spastic paraplegia 171 test
Spastic paraplegia 351 test
Spastic paraplegia 56, autosomal recessive1 test
Spastic paraplegia 57, autosomal recessive1 test
Spastic paraplegia 62, autosomal recessive1 test
Spastic paraplegia 75, autosomal recessive1 test
Spastic paraplegia 76, autosomal recessive1 test
Spastic paraplegia 77, autosomal recessive1 test
Spastic paraplegia 78, autosomal recessive1 test
Spastic paraplegia 79, autosomal recessive1 test
Spastic paraplegia and psychomotor retardation with or without seizures2 tests
Spastic paraplegia, intellectual disability, nystagmus, and obesity3 tests
Spastic tetraplegia, thin corpus callosum, and progressive microcephaly3 tests
Spheroid body myopathy2 tests
Sphingomyelin/cholesterol lipidosis2 tests
Spinocerebellar Ataxia Type 151 test
Spinocerebellar ataxia 351 test
Spinocerebellar ataxia 381 test
Spinocerebellar ataxia 401 test
Spinocerebellar ataxia 411 test
Spinocerebellar ataxia 421 test
Spinocerebellar ataxia 431 test
Spinocerebellar ataxia 71 test
Spinocerebellar ataxia type 12 tests
Spinocerebellar ataxia type 101 test
Spinocerebellar ataxia type 111 test
Spinocerebellar ataxia type 121 test
Spinocerebellar ataxia type 131 test
Spinocerebellar ataxia type 141 test
Spinocerebellar ataxia type 171 test
Spinocerebellar ataxia type 19/221 test
Spinocerebellar ataxia type 21 test
Spinocerebellar ataxia type 211 test
Spinocerebellar ataxia type 231 test
Spinocerebellar ataxia type 261 test
Spinocerebellar ataxia type 271 test
Spinocerebellar ataxia type 281 test
Spinocerebellar ataxia type 311 test
Spinocerebellar ataxia type 51 test
Spinocerebellar ataxia type 61 test
Spinocerebellar ataxia type 81 test
Spinocerebellar ataxia, X-linked 11 test
Spinocerebellar ataxia, autosomal recessive 101 test
Spinocerebellar ataxia, autosomal recessive 111 test
Spinocerebellar ataxia, autosomal recessive 121 test
Spinocerebellar ataxia, autosomal recessive 131 test
Spinocerebellar ataxia, autosomal recessive 151 test
Spinocerebellar ataxia, autosomal recessive 161 test
Spinocerebellar ataxia, autosomal recessive 171 test
Spinocerebellar ataxia, autosomal recessive 181 test
Spinocerebellar ataxia, autosomal recessive 21 test
Spinocerebellar ataxia, autosomal recessive 201 test
Spinocerebellar ataxia, autosomal recessive 211 test
Spinocerebellar ataxia, autosomal recessive 221 test
Spinocerebellar ataxia, autosomal recessive 231 test
Spinocerebellar ataxia, autosomal recessive 241 test
Spinocerebellar ataxia, autosomal recessive 81 test
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy1 test
Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome3 tests
Statin-induced myopathy2 tests
Striatonigral degeneration infantile2 tests
Striatonigral degeneration, childhood-onset1 test
Stromme syndrome1 test
Subcortical laminar heterotopia, X-linked1 test
Succinate-semialdehyde dehydrogenase deficiency1 test
Sudden infant death with dysgenesis of the testes syndrome1 test
Syndactyly-telecanthus-anogenital and renal malformations syndrome1 test
Syndromic X-linked mental retardation, Cabezas type2 tests
Tatton-Brown-rahman syndrome1 test
Tay-Sachs disease1 test
Temple syndrome1 test
Tenorio syndrome1 test
Terminal osseous dysplasia1 test
Testicular anomalies with or without congenital heart disease2 tests
Testosterone 17-beta-dehydrogenase deficiency2 tests
Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)2 tests
Thrombocytopenia2 tests
Thrombocytopenia 23 tests
Thrombocytopenia 41 test
Thrombocytopenia 52 tests
Thrombocytopenia, platelet dysfunction, hemolysis, and imbalanced globin synthesis2 tests
Thyroid cancer1 test
Thyroid carcinoma1 test
Thyroid dyshormonogenesis1 test
Thyroid hormone resistance syndrome1 test
Tibial muscular dystrophy1 test
Torsion dystonia 21 test
Torsion dystonia 61 test
Townes-Brocks syndrome 11 test
Transcolabamin II deficiency1 test
Transient neonatal diabetes mellitus 11 test
Transitory neonatal diabetes mellitus1 test
Treacher Collins syndrome1 test
Troyer syndrome2 tests
Tuberous sclerosis syndrome1 test
Turcot syndrome4 tests
Type 2 diabetes mellitus2 tests
Typical absence seizures2 tests
UMOD-Associated Kidney Disease1 test
Ullrich congenital muscular dystrophy 12 tests
Upshaw-Schulman syndrome1 test
Urocanate hydratase deficiency1 test
Usher syndrome, type 3B1 test
Van Maldergem syndrome 21 test
Van den Ende-Gupta syndrome1 test
Von Hippel-Lindau syndrome3 tests
Waardenburg syndrome type 2A1 test
Walker-Warburg congenital muscular dystrophy1 test
Warburg micro syndrome1 test
Warburg micro syndrome 11 test
Warburg micro syndrome 41 test
Warts, hypogammaglobulinemia, infections, and myelokathexis3 tests
Weaver syndrome2 tests
Werner syndrome2 tests
West syndrome2 tests
Wilson disease3 tests
Wiskott-Aldrich syndrome1 test
Wolcott-Rallison dysplasia1 test
Wolfram syndrome2 tests
Wolfram syndrome 21 test
X-linked intellectual disability1 test
X-linked severe congenital neutropenia1 test
X-linked sideroblastic anemia with ataxia1 test
X-linked thrombocytopenia with normal platelets1 test
Xeroderma pigmentosum2 tests
You-Hoover-Fong syndrome1 test
Yunis-Varon syndrome1 test
gene sequencing3 tests
von Willebrand disease, type 2b1 test
Support Center