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Greenwood Genetic Center Diagnostic Laboratories (Greenwood Genetic Center)

General information

Greenwood Genetic Center Diagnostic Laboratories
Greenwood Genetic Center
106 Gregor Mendel Circle
Greenwood
South Carolina
United States - 29646
https://www.ggc.org/diagnostic-lab
Organization ID: 1019

Personnel

View this laboratory in GTR

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 3157

Gene

GeneSubmissionsLast Updated
AAAS2May 26, 2023
AARS11Feb 10, 2022
AASS1Feb 10, 2022
ABCA11Feb 10, 2022
ABCA23Jan 18, 2023
ABCA31May 26, 2023
ABCB41Feb 2, 2024
ABCB61Feb 10, 2022
ABCC63Oct 14, 2022
ABCC82Dec 18, 2020
ABCC91Apr 11, 2022
ABCD13Feb 2, 2024
ABR1Oct 17, 2023
ACADM3Feb 2, 2024
ACADVL3Apr 11, 2022
ACAN1Oct 17, 2023
ACAT11May 26, 2023
ACIN11May 9, 2024
ACOX13Feb 2, 2024
ACSF34May 9, 2024
ACSL43May 9, 2024
ACTA13Apr 11, 2022
ACTA22Apr 11, 2022
ACTB2Jul 12, 2022
ACTG11Oct 14, 2022
ACVRL13Oct 14, 2022
ADAM111May 9, 2024
ADAMTS131Feb 10, 2022
ADAMTSL11Jul 12, 2022
ADAMTSL22Feb 10, 2022
ADARB11May 26, 2023
ADAT31Feb 10, 2022
ADCY21Oct 14, 2022
ADCY51Oct 17, 2023
ADGRL14May 9, 2024
ADGRL1-AS14May 9, 2024
ADGRV11Feb 10, 2022
ADNP6Feb 2, 2024
AFF22May 9, 2024
AFF31Feb 10, 2022
AFF42Feb 2, 2024
AFG2A1Feb 10, 2022
AGA2Jul 12, 2022
AGA-DT1Jul 12, 2022
AGAP21Oct 14, 2022
AGBL11Feb 10, 2022
AGL6Jul 17, 2023
AGO14May 9, 2024
AGO21Jul 12, 2022
AGO31Dec 18, 2020
AGTPBP11Dec 18, 2020
AHCY1Feb 10, 2022
AHDC13Jan 18, 2023
AIFM11Apr 13, 2021
AIMP11Feb 10, 2022
AIMP21Jan 18, 2023
ALAD2Jan 18, 2023
ALDH18A12Jul 12, 2022
ALDH7A11Feb 10, 2022
ALDOB1Feb 10, 2022
ALG112Oct 14, 2022
ALG122Oct 17, 2023
ALG132Oct 14, 2022
ALG142May 9, 2024
ALG32Dec 18, 2020
ALG82Feb 2, 2024
ALKBH82Oct 17, 2023
ALPK11May 26, 2023
ALPL3May 26, 2023
ALX41Feb 10, 2022
AMER11Dec 18, 2020
AMIGO11Apr 11, 2022
AMPD12Feb 2, 2024
ANGPTL12May 9, 2024
ANK33May 29, 2023
ANKHD11May 9, 2024
ANKHD1-EIF4EBP31May 9, 2024
ANKRD119May 9, 2024
ANKRD175Feb 2, 2024
ANKS4B1Oct 17, 2023
ANO102Feb 2, 2024
ANP32A1Apr 11, 2022
AP4M12May 26, 2023
AP5S11Feb 2, 2024
AP5Z11May 26, 2023
APC1Jan 24, 2022
APC25Oct 17, 2023
APOB4Feb 2, 2024
ARFGEF14May 9, 2024
ARHGAP313Feb 2, 2024
ARHGAP351Dec 18, 2020
ARHGAP441Feb 2, 2024
ARID1A7Feb 2, 2024
ARID1B11Oct 17, 2023
ARID23Jul 17, 2023
ARID3A1May 26, 2023
ARID5B1Jul 12, 2022
ARL13B1Feb 10, 2022
ARL17A1Jul 12, 2022
ARMC81Feb 10, 2022
ARMCX5-GPRASP21May 9, 2024
ARSL2May 9, 2024
ARV11Apr 11, 2022
ARX2Jul 17, 2023
ASH1L9Feb 2, 2024
ASIC32Jul 12, 2022
ASIC4-AS11Jul 17, 2023
ASL2May 26, 2023
ASPHD21May 9, 2024
ASPM4Jul 17, 2023
ASXL12Feb 10, 2022
ASXL24Jul 12, 2022
ASXL34May 9, 2024
ATG2A1Jul 17, 2023
ATIC2Oct 17, 2023
ATM9Feb 2, 2024
ATP10A1Feb 10, 2022
ATP1A22Jan 18, 2023
ATP1A32Jan 18, 2023
ATP2B12Oct 17, 2023
ATP2B22Jul 17, 2023
ATP2B31Apr 11, 2022
ATP2B41May 9, 2024
ATP6AP21Feb 10, 2022
ATP6V0A41Feb 10, 2022
ATP6V0C1Oct 14, 2022
ATP7A1Oct 14, 2022
ATP7B3Oct 17, 2023
ATP8B11Jan 18, 2023
ATP9A2Oct 17, 2023
ATRX6Jul 17, 2023
ATXN7L3-AS11Feb 10, 2022
AUTS26May 9, 2024
AXIN21Jul 17, 2023
B3GLCT1May 26, 2023
BACH21Jul 12, 2022
BAP11Oct 17, 2023
BAZ2B4Jul 17, 2023
BBS11Jul 12, 2022
BCL11A6May 9, 2024
BCL11B2May 26, 2023
BCOR3May 9, 2024
BCORL17Jul 17, 2023
BICRA4May 9, 2024
BLM1Oct 14, 2022
BLTP13May 9, 2024
BMP41Oct 14, 2022
BMPR22Oct 17, 2023
BNC21Jul 17, 2023
BOLA31Jul 12, 2022
BPTF5Feb 2, 2024
BRAF10Jan 18, 2023
BRAT14Feb 10, 2022
BRCA16May 9, 2024
BRCA210May 9, 2024
BRF14Apr 11, 2022
BRIP14May 9, 2024
BRPF14May 9, 2024
BRPF31Jul 17, 2023
BRSK21Oct 17, 2023
BRWD34Oct 17, 2023
BSCL21Jul 12, 2022
BSN2May 9, 2024
BTD1May 26, 2023
BUB1B2Apr 11, 2022
BUB1B-PAK61Apr 11, 2022
C11orf653Jan 18, 2023
C17orf1072May 26, 2023
C1R2Oct 17, 2023
CABP41Oct 17, 2023
CACNA1A9May 9, 2024
CACNA1C3Oct 17, 2023
CACNA1C-AS11Oct 17, 2023
CACNA1D1Jan 18, 2023
CACNA1E2May 26, 2023
CACNA2D23Jul 12, 2022
CACNG21Feb 2, 2024
CAD1Aug 7, 2020
CAMK2B1Dec 18, 2020
CAMK2G1Aug 28, 2018
CAMTA19Feb 2, 2024
CAPN31Oct 17, 2023
CASK3Oct 17, 2023
CASR3May 9, 2024
CBL4Oct 17, 2023
CBS2Jan 18, 2023
CC2D1A4May 26, 2023
CC2D2A4Jan 18, 2023
CCDC222Jul 12, 2022
CCDC85C1Jan 18, 2023
CCDC88C2May 9, 2024
CCDST11May 9, 2024
CCNH1Feb 2, 2024
CCNK1Jan 18, 2023
CDC421Oct 17, 2023
CDC42BPB5Oct 17, 2023
CDH111Jul 17, 2023
CDH131May 9, 2024
CDH151Jul 12, 2022
CDH21Jul 17, 2023
CDH231Feb 2, 2024
CDK132May 9, 2024
CDK161Jul 12, 2022
CDK83Oct 17, 2023
CDKL51Jul 17, 2023
CDKN1C1Feb 10, 2022
CDON1Feb 10, 2022
CECR21Jul 12, 2022
CELF21Feb 10, 2022
CELF2-AS11Feb 10, 2022
CELF31Dec 18, 2020
CELF41Jul 17, 2023
CEP2904Jul 12, 2022
CERT11Jan 18, 2023
CFAP1442Oct 14, 2022
CFTR9Feb 2, 2024
CFTR-AS13Feb 2, 2024
CHAMP15Jan 18, 2023
CHD14Jul 17, 2023
CHD22May 9, 2024
CHD38May 9, 2024
CHD49Feb 2, 2024
CHD53Feb 2, 2024
CHD61Feb 10, 2022
CHD711May 9, 2024
CHD85Feb 2, 2024
CHEK28May 9, 2024
CHMP1A1Feb 2, 2024
CHRNE3May 26, 2023
CIC6Feb 2, 2024
CKAP2L1May 9, 2024
CLCN18May 9, 2024
CLCN33Feb 2, 2024
CLCN43May 9, 2024
CLCN51Feb 10, 2022
CLCN62Oct 17, 2023
CLCN71Feb 10, 2022
CLCNKB2Dec 18, 2020
CLIC21Apr 11, 2022
CLIP21May 9, 2024
CLN62Aug 7, 2020
CLN82Jan 18, 2023
CLTC5Jul 17, 2023
CNKSR22May 9, 2024
CNOT17Oct 17, 2023
CNOT31Jul 17, 2023
CNPY3-GNMT2Feb 10, 2022
CNTN61Apr 11, 2022
CNTNAP24Feb 2, 2024
CNTNAP52Feb 2, 2024
COASY1Jul 12, 2022
COG51Feb 10, 2022
COL10A11May 9, 2024
COL11A11Jul 17, 2023
COL12A11May 26, 2023
COL17A12Oct 14, 2022
COL18A12Feb 10, 2022
COL1A16Oct 17, 2023
COL1A21Feb 2, 2024
COL2A18Feb 2, 2024
COL3A11Jul 17, 2023
COL4A14Feb 2, 2024
COL4A25Jan 18, 2023
COL4A2-AS11Feb 10, 2022
COL4A34Oct 17, 2023
COL4A46May 9, 2024
COL4A55Oct 17, 2023
COL5A12May 9, 2024
COL5A23Jul 17, 2023
COL6A23Jul 17, 2023
COL6A32Feb 10, 2022
COPA1May 9, 2024
COQ41Dec 18, 2020
COQ71May 26, 2023
COX101Dec 18, 2020
CPLANE11Feb 10, 2022
CRACR2A1Jul 12, 2022
CRB11Jul 17, 2023
CREBBP10Feb 2, 2024
CRIPTO1May 26, 2023
CRMP11Oct 14, 2022
CRNN1Oct 17, 2023
CRPPA2Jul 17, 2023
CRPPA-AS11Jul 17, 2023
CRTC21Feb 10, 2022
CRYBA11Feb 10, 2022
CSDE12Feb 10, 2022
CSF1R1Feb 10, 2022
CSMD11Oct 17, 2023
CSNK2A13Oct 17, 2023
CSNK2B3Feb 10, 2022
CSPP11Feb 10, 2022
CST61Feb 10, 2022
CTBP11Feb 10, 2022
CTCF3Jul 17, 2023
CTDP11Jul 12, 2022
CTDSPL22Jul 12, 2022
CTNNB11Oct 14, 2022
CTNND23Jul 17, 2023
CTNS1Oct 17, 2023
CTNS-AS11Oct 17, 2023
CTPS11Apr 11, 2022
CTXN2-AS11Feb 10, 2022
CUL11May 26, 2023
CUL31Jan 18, 2023
CUL4B5May 9, 2024
CUL74Jul 17, 2023
CUX12Feb 2, 2024
CUX22Jul 17, 2023
CYB561D22Jul 12, 2022
CYFIP22May 9, 2024
CYLD1Feb 10, 2022
CYP11A11Jul 17, 2023
CYP11B11Oct 17, 2023
CYP21A26Feb 2, 2024
CYP24A12May 9, 2024
CYP2U12Jul 12, 2022
CYP51A12Oct 17, 2023
DAB2IP1Feb 10, 2022
DBT1Feb 10, 2022
DCC4Feb 2, 2024
DCDC21Feb 10, 2022
DCX1Feb 10, 2022
DDB12Oct 14, 2022
DDX238May 26, 2023
DDX3X6May 30, 2024
DDX421Oct 17, 2023
DDX61Jul 12, 2022
DEAF13Oct 14, 2022
DENND5B1Oct 14, 2022
DEPDC52Apr 11, 2022
DHCR75Feb 10, 2022
DHDDS2Oct 17, 2023
DHPS2Jan 18, 2023
DHTKD11Oct 14, 2022
DHX161Oct 17, 2023
DHX371Feb 10, 2022
DHX92Feb 2, 2024
DIP2B1Oct 14, 2022
DLG36Oct 17, 2023
DLG44Oct 17, 2023
DLL15Jul 17, 2023
DLL32Jul 17, 2023
DMAP12Oct 14, 2022
DMD6Feb 2, 2024
DNAH11Jan 18, 2023
DNAH111Oct 14, 2022
DNAH145May 9, 2024
DNAH52Apr 11, 2022
DNAI12May 26, 2023
DNAJC61Apr 11, 2022
DNAJC91May 26, 2023
DNMT11Feb 10, 2022
DNMT3A4Apr 11, 2022
DOCK33Jul 17, 2023
DOCK61Apr 11, 2022
DOCK6-AS11Apr 11, 2022
DOHH1Jul 17, 2023
DONSON1Feb 10, 2022
DOT1L1Feb 10, 2022
DPF21Apr 11, 2022
DPH11Apr 11, 2022
DROSHA1Dec 18, 2020
DSG1-AS11Dec 18, 2020
DSG41Dec 18, 2020
DSP1Feb 10, 2022
DSPP1Oct 17, 2023
DSTYK1May 9, 2024
DTHD11Oct 17, 2023
DVL31May 9, 2024
DYNC1H110May 9, 2024
DYNC2H15May 26, 2023
DYRK1A13May 9, 2024
EBF11Jul 17, 2023
EBF31May 9, 2024
EBP1Apr 11, 2022
ECEL12Apr 11, 2022
EDA6Oct 17, 2023
EDAR2Feb 2, 2024
EDNRB1May 26, 2023
EDNRB-AS11May 26, 2023
EEF1A22May 9, 2024
EFHC11May 9, 2024
EFHC21May 9, 2024
EFNB12May 9, 2024
EFTUD22Oct 17, 2023
EGR21Feb 10, 2022
EHMT16Jul 17, 2023
EHMT2-AS11Feb 10, 2022
EIF2AK21Jul 12, 2022
EIF2B51Feb 10, 2022
EIF2S31Oct 17, 2023
EIF3F3Feb 2, 2024
EIF4A21Oct 17, 2023
ELAVL31Jul 17, 2023
ELAVL41Feb 10, 2022
ELN1Jul 12, 2022
ELN-AS11Jul 12, 2022
ELP23Jul 17, 2023
ELP41Jan 18, 2023
EMC11Oct 17, 2023
EMC1-AS11Oct 17, 2023
EME21Feb 10, 2022
EMILIN11May 9, 2024
EML12May 9, 2024
EML61Oct 14, 2022
ENG3Jan 18, 2023
EP3003May 9, 2024
EP4004Oct 14, 2022
EPB41L4B1Jul 17, 2023
EPHB42Jan 18, 2023
EPRS13Oct 17, 2023
ERBB41Jul 17, 2023
ERCC11Feb 10, 2022
ERCC22Oct 14, 2022
ERCC62Jul 12, 2022
ERF3Oct 17, 2023
ESPN1Feb 10, 2022
ETFDH2Oct 14, 2022
EXOC72Feb 2, 2024
EXOSC31Feb 10, 2022
EXT11Jan 18, 2023
EXT24May 9, 2024
EYA13May 9, 2024
EYS1Feb 2, 2024
EZH22Oct 14, 2022
F21Apr 11, 2022
F72Feb 10, 2022
F91Feb 10, 2022
FAH2Feb 10, 2022
FAM120A2Jan 18, 2023
FAM135B1May 26, 2023
FAM149B12May 26, 2023
FAM50A2Oct 14, 2022
FANCA1Feb 10, 2022
FANCG1Feb 10, 2022
FANCI1Jan 18, 2023
FARS21May 9, 2024
FARSB1Feb 10, 2022
FASN1Feb 10, 2022
FAT41Oct 14, 2022
FBN18May 9, 2024
FBN22Oct 14, 2022
FBXL191May 9, 2024
FBXL43Jan 18, 2023
FBXO112Feb 2, 2024
FBXO71Jan 18, 2023
FBXW72May 9, 2024
FCSK1Jul 12, 2022
FEM1C1Jan 18, 2023
FGD12Jul 17, 2023
FGF131Jul 12, 2022
FGFR11Jan 18, 2023
FGFR23Oct 14, 2022
FGFR33May 9, 2024
FH2Feb 10, 2022
FIBCD12May 26, 2023
FIG41Feb 2, 2024
FKBP141Feb 10, 2022
FKBP14-AS11Feb 10, 2022
FLG11May 9, 2024
FLNA3Feb 2, 2024
FLT41Feb 10, 2022
FNDC71Oct 14, 2022
FOXG12Feb 2, 2024
FOXL22Jul 17, 2023
FOXP13Feb 2, 2024
FOXP21Jul 17, 2023
FOXP41May 9, 2024
FRAS12Dec 18, 2020
FRMD51Feb 2, 2024
FRMD71May 26, 2023
FRMPD49May 9, 2024
FTSJ11May 9, 2024
FUT111May 9, 2024
G6PC11Oct 17, 2023
G6PD2May 9, 2024
GAA3Oct 17, 2023
GABBR11Apr 11, 2022
GABBR22Oct 17, 2023
GABRA21Feb 10, 2022
GABRA51Feb 10, 2022
GABRE1Feb 10, 2022
GABRG21Oct 17, 2023
GALC2Jul 17, 2023
GALE3Jan 18, 2023
GALNS1Feb 10, 2022
GALNT32Jul 17, 2023
GALT2Feb 10, 2022
GANAB1May 26, 2023
GAPVD11Feb 10, 2022
GAREM21Feb 10, 2022
GARS11Feb 10, 2022
GATA51Feb 2, 2024
GATA61Feb 10, 2022
GATAD2B5Oct 17, 2023
GBA12May 9, 2024
GBE11Feb 10, 2022
GBF11May 9, 2024
GCLC1Feb 2, 2024
GDAP11Jul 12, 2022
GDF51Apr 11, 2022
GDI11May 9, 2024
GEMIN53May 9, 2024
GFM11Feb 10, 2022
GH-LCR2Oct 14, 2022
GHSR1Jan 18, 2023
GIGYF21Jan 18, 2023
GJA11Feb 10, 2022
GJB12Feb 2, 2024
GJB21Feb 10, 2022
GJC21May 26, 2023
GLB11Jul 17, 2023
GLDC2Oct 17, 2023
GLI22Oct 14, 2022
GLI31Jan 18, 2023
GLMN2Jan 18, 2023
GLRA11Feb 10, 2022
GML1Oct 17, 2023
GNAS4Feb 10, 2022
GNB14May 9, 2024
GNB52Feb 2, 2024
GNG31Jul 12, 2022
GNMT2Feb 10, 2022
GPC32Oct 17, 2023
GPR1321May 9, 2024
GPR1431Oct 14, 2022
GPRASP11May 9, 2024
GPSM21Feb 10, 2022
GREB1L1May 26, 2023
GRIA12Apr 11, 2022
GRIA24Feb 2, 2024
GRIA36Feb 2, 2024
GRIA42Feb 2, 2024
GRID21Dec 18, 2020
GRIK23May 9, 2024
GRIN13Jul 12, 2022
GRIN2A5Jul 17, 2023
GRIN2B3Jul 17, 2023
GRIN2D1Jul 12, 2022
GRM11May 9, 2024
GRM71Feb 10, 2022
GUCY1A21May 9, 2024
GYG11Jul 17, 2023
H1-41Jul 17, 2023
H4C52May 9, 2024
HACE11Feb 10, 2022
HADHA2Feb 10, 2022
HADHB1May 26, 2023
HBB3Oct 14, 2022
HCFC11Feb 10, 2022
HCN13Oct 17, 2023
HCN41Oct 17, 2023
HDAC41Oct 17, 2023
HDAC81May 26, 2023
HDAC91Jul 12, 2022
HEATR5B2Jan 18, 2023
HECTD13Oct 17, 2023
HECTD41Jul 17, 2023
HECW24Oct 17, 2023
HEPHL12Dec 18, 2020
HERC12Oct 14, 2022
HERC26Oct 17, 2023
HEXB1Feb 2, 2024
HFE2Jul 12, 2022
HFE-AS11Apr 11, 2022
HIVEP27Feb 2, 2024
HLCS1Feb 10, 2022
HMGXB31Apr 11, 2022
HMX31Feb 10, 2022
HNMT2Feb 2, 2024
HNRNPDL1Dec 18, 2020
HNRNPF1Jul 12, 2022
HNRNPH22Feb 2, 2024
HNRNPL1Jul 17, 2023
HNRNPR1Jan 18, 2023
HNRNPU1Oct 17, 2023
HNRNPUL11Feb 2, 2024
HNRNPUL21Oct 14, 2022
HNRNPUL2-BSCL22Oct 14, 2022
HRAS1Jul 12, 2022
HS6ST21Oct 17, 2023
HSD17B31Jul 17, 2023
HSD17B3-AS11Jul 17, 2023
HSD17B43Jul 12, 2022
HSPA92Oct 17, 2023
HSPB11May 9, 2024
HSPG22Dec 18, 2020
HUWE113May 9, 2024
IARS11Jan 18, 2023
IDH12Oct 17, 2023
IDS1Jul 31, 2020
IDUA1Feb 10, 2022
IGF1R2Feb 2, 2024
IKBKB1Feb 10, 2022
IL1RAPL16Oct 17, 2023
IL1RAPL21Jul 17, 2023
IL2RG1Apr 11, 2022
IMPG11Feb 10, 2022
INPP5E1Feb 2, 2024
INSR1Oct 14, 2022
INTS12Apr 11, 2022
INTS61Jul 12, 2022
INVS1Feb 10, 2022
IPO91Jul 17, 2023
IQGAP31Feb 10, 2022
IQSEC11Feb 10, 2022
IQSEC25Jul 17, 2023
IRF2BP21Apr 11, 2022
IRF2BPL6May 9, 2024
IRF61May 9, 2024
ITGA2B1Jan 18, 2023
ITGB41Jan 18, 2023
ITPA1Feb 10, 2022
ITPR12Feb 10, 2022
ITSN13Oct 17, 2023
IVD5May 26, 2023
JAG11Oct 14, 2022
JAKMIP11Feb 10, 2022
JAM31Feb 2, 2024
JMJD1C6Jul 17, 2023
JPH31Jan 18, 2023
KANSL12May 26, 2023
KARS11Jul 17, 2023
KAT52Jul 17, 2023
KAT6A7Feb 2, 2024
KAT6B2May 9, 2024
KAT81Jul 17, 2023
KATNAL21Feb 10, 2022
KATNIP1Feb 10, 2022
KCNA23Feb 2, 2024
KCNA31Feb 10, 2022
KCNB13Apr 11, 2022
KCNC11Jul 17, 2023
KCNH11May 26, 2023
KCNH22May 26, 2023
KCNH31Dec 18, 2020
KCNH41Jul 12, 2022
KCNH51Jan 18, 2023
KCNJ11Dec 10, 2020
KCNJ112Oct 17, 2023
KCNJ61Apr 11, 2022
KCNK91Dec 18, 2020
KCNMA12Jul 17, 2023
KCNN21Feb 2, 2024
KCNN33Jul 12, 2022
KCNQ13Feb 2, 2024
KCNQ22Jul 17, 2023
KCNQ31May 9, 2024
KCNQ53Jul 17, 2023
KCNQ5-DT1Jul 17, 2023
KCNT11Dec 18, 2020
KCNT24Oct 17, 2023
KDM2B2May 9, 2024
KDM2B-DT1Jan 18, 2023
KDM3B6Oct 17, 2023
KDM4B5Feb 2, 2024
KDM5B1Jul 12, 2022
KDM5C6May 26, 2023
KDM6A2May 9, 2024
KDM6B19May 9, 2024
KIAA05865Feb 2, 2024
KIAA07531Jul 12, 2022
KIF1A3Feb 2, 2024
KIF21B2Oct 14, 2022
KIF231Jan 18, 2023
KIF2A1Feb 10, 2022
KIF4A2Oct 17, 2023
KIF5A1Oct 17, 2023
KIF73Jul 17, 2023
KIFBP1Feb 10, 2022
KIT1Feb 10, 2022
KLC41Feb 10, 2022
KLF72May 26, 2023
KLHL151Dec 18, 2020
KLHL201Apr 11, 2022
KLHL71Feb 10, 2022
KLHL91Oct 17, 2023
KMT2A12Feb 2, 2024
KMT2B7May 9, 2024
KMT2C7May 9, 2024
KMT2D5Oct 17, 2023
KMT2E10Oct 17, 2023
KMT5B5May 9, 2024
KPTN4Oct 17, 2023
KRAS7May 9, 2024
KRIT12Oct 17, 2023
KRT51Feb 10, 2022
KRT91Feb 10, 2022
LAMA12Feb 2, 2024
LAMA25Oct 7, 2022
LARP71May 26, 2023
LAS1L2May 9, 2024
LDLR8Oct 17, 2023
LEMD31Feb 10, 2022
LEPR1Jan 18, 2023
LGI32Oct 17, 2023
LHFPL31Jul 17, 2023
LHX21Jul 17, 2023
LIG41Feb 2, 2024
LIM21May 9, 2024
LIM2-AS11May 9, 2024
LINGO11Apr 11, 2022
LINS13Jul 17, 2023
LIPT11Jul 17, 2023
LMBRD24Feb 2, 2024
LMNA3Feb 2, 2024
LMX1B2May 9, 2024
LOC1014482021May 9, 2024
LOC1019280081Feb 10, 2022
LOC1019283351Jul 12, 2022
LOC1019289651Jul 12, 2022
LOC1019291651May 9, 2024
LOC1027235662Jan 18, 2023
LOC1027240585Jul 17, 2023
LOC1053708901Oct 17, 2023
LOC1053715661May 26, 2023
LOC1053718561Aug 7, 2020
LOC1060990623Oct 14, 2022
LOC1065017132Dec 18, 2020
LOC1066279812May 9, 2024
LOC1067808006Feb 2, 2024
LOC1067998331Oct 17, 2023
LOC1071335103Oct 14, 2022
LOC1073033401Feb 10, 2022
LOC1073723152Apr 11, 2022
LOC1076524451May 9, 2024
LOC1079846381Jan 18, 2023
LOC1079880321Feb 2, 2024
LOC1082811771Oct 17, 2023
LOC1116744721Oct 17, 2023
LOC1136338771Jul 12, 2022
LOC1138457881Oct 17, 2023
LOC1153081611Oct 17, 2023
LOC1215875745May 9, 2024
LOC1217406381Jan 18, 2023
LOC1251773931May 9, 2024
LOC1251774791Jul 12, 2022
LOC1268056701Feb 10, 2022
LOC1268064331May 26, 2023
LOC1268067141Feb 2, 2024
LOC1268067981Jul 12, 2022
LOC1268068781May 26, 2023
LOC1268073181Apr 11, 2022
LOC1268073211Oct 17, 2023
LOC1268073231May 9, 2024
LOC1268076191Feb 10, 2022
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YY21Jul 12, 2022
ZBTB112May 9, 2024
ZBTB182Oct 14, 2022
ZBTB47-AS11Feb 10, 2022
ZBTB7A1Jul 17, 2023
ZCCHC81Jan 18, 2023
ZEB25Feb 2, 2024
ZFHX41May 26, 2023
ZFR2May 9, 2024
ZFYVE261Feb 10, 2022
ZMIZ112May 9, 2024
ZMYM25Dec 1, 2023
ZMYM34Feb 2, 2024
ZMYND102May 9, 2024
ZMYND113Jul 17, 2023
ZMYND82May 9, 2024
ZNF1422Apr 11, 2022
ZNF1482May 9, 2024
ZNF2871Oct 14, 2022
ZNF29210Feb 2, 2024
ZNF4072Feb 2, 2024
ZNF4628Feb 2, 2024
ZNF4691Jul 17, 2023
ZNF6871Oct 17, 2023
ZNF6993May 26, 2023
ZNF7111Feb 2, 2024
ZNF7741Feb 10, 2022
ZNF7771Jul 17, 2023
ZSWIM62Oct 17, 2023
ZSWIM81Oct 17, 2023
ZSWIM8-AS11Oct 17, 2023

Condition

NameSubmissionsLast Updated
3-methylcrotonyl-CoA carboxylase 1 deficiency2May 9, 2024
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome1Feb 10, 2022
3M syndrome 12Jul 17, 2023
3M syndrome 21Feb 2, 2024
ABCB4-related disorder1Feb 2, 2024
ABCC6-related disorder2Oct 14, 2022
ADCY5-related disorder1Oct 17, 2023
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder1Feb 10, 2022
ALDH18A1-related disorder1Jul 12, 2022
ALG8-related disorder1Feb 2, 2024
ANK3-related disorder1May 29, 2023
ATM-related disorder1May 26, 2023
Absent or delayed speech development10Dec 12, 2014
Acral peeling skin syndrome1Feb 10, 2022
Actin accumulation myopathy1Feb 10, 2022
Acyl-CoA oxidase deficiency1Feb 2, 2024
Adams-Oliver syndrome 21Apr 11, 2022
Adrenoleukodystrophy3Feb 2, 2024
Adult hypophosphatasia2May 26, 2023
Aicardi-Goutieres syndrome 21Feb 10, 2022
Alagille syndrome due to a JAG1 point mutation1Oct 14, 2022
Alkuraya-Kucinskas syndrome1Feb 2, 2024
Alpha-1-antitrypsin deficiency2Jul 12, 2022
Alpha-N-acetylgalactosaminidase deficiency type 11Feb 10, 2022
Alpha-N-acetylgalactosaminidase deficiency type 21Feb 10, 2022
Alternating hemiplegia of childhood 11Feb 10, 2022
Alternating hemiplegia of childhood 22Jan 18, 2023
Amyotrophic neuralgia1May 9, 2024
Anemia, nonspherocytic hemolytic, due to G6PD deficiency2May 9, 2024
Aneurysm-osteoarthritis syndrome1Feb 10, 2022
Angelman syndrome3Jul 12, 2022
Aniridia 11Oct 17, 2023
Anophthalmia/microphthalmia-esophageal atresia syndrome1Oct 17, 2023
Aortic aneurysm, familial thoracic 42May 26, 2023
Aortic aneurysm, familial thoracic 61Apr 11, 2022
Aortic valve disease 11Oct 17, 2023
Argininosuccinate lyase deficiency2May 26, 2023
Arrhythmogenic right ventricular dysplasia 81Feb 10, 2022
Arrhythmogenic right ventricular dysplasia 94May 9, 2024
Asphyxiating thoracic dystrophy 31Jul 12, 2022
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome1Feb 2, 2024
Ataxia-telangiectasia syndrome2Oct 14, 2022
Atrial fibrillation, familial, 31Feb 10, 2022
Autism1Aug 28, 2018
Autism spectrum disorder due to AUTS2 deficiency1Jan 18, 2023
Autism, susceptibility to, 172Apr 11, 2022
Autosomal dominant Alport syndrome1Feb 10, 2022
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures2Feb 10, 2022
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome1Feb 10, 2022
Autosomal dominant osteopetrosis 21Feb 10, 2022
Autosomal recessive Alport syndrome3May 9, 2024
Autosomal recessive DOPA responsive dystonia1May 9, 2024
Autosomal recessive hypophosphatemic bone disease1May 26, 2023
Autosomal recessive nonsyndromic hearing loss 371Jan 18, 2023
Autosomal recessive nonsyndromic hearing loss 43Feb 10, 2022
Autosomal recessive nonsyndromic hearing loss 661Feb 10, 2022
Autosomal recessive nonsyndromic hearing loss 91Feb 10, 2022
Autosomal recessive osteopetrosis 12May 9, 2024
Autosomal recessive osteopetrosis 41Feb 10, 2022
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 201Feb 2, 2024
BRCA1-related disorder1May 9, 2024
Band heterotopia of brain1Oct 14, 2022
Baraitser-Winter syndrome 11Feb 10, 2022
Bardet-Biedl syndrome 11Jul 12, 2022
Bardet-Biedl syndrome 141Feb 10, 2022
Bardet-Biedl syndrome 161Jul 12, 2022
Bartter disease type 21Dec 10, 2020
Beck-Fahrner syndrome1Apr 11, 2022
Becker muscular dystrophy1Feb 2, 2024
Benign familial hematuria1May 26, 2023
Bent bone dysplasia syndrome 11Oct 14, 2022
Bifunctional peroxisomal enzyme deficiency2Jul 12, 2022
Blepharophimosis, ptosis, and epicanthus inversus syndrome2Jul 17, 2023
Bloom syndrome1Oct 14, 2022
Bohring-Opitz syndrome1Feb 10, 2022
Bone marrow failure syndrome 41Jan 18, 2023
Bosch-Boonstra-Schaaf optic atrophy syndrome2Oct 17, 2023
Brain malformations with or without urinary tract defects1Oct 17, 2023
Brain small vessel disease 1 with or without ocular anomalies1Feb 10, 2022
Branchiootorenal syndrome 11May 9, 2024
Breast-ovarian cancer, familial, susceptibility to, 14Jul 17, 2023
Breast-ovarian cancer, familial, susceptibility to, 24May 9, 2024
Breast-ovarian cancer, familial, susceptibility to, 31Apr 11, 2022
Breast-ovarian cancer, familial, susceptibility to, 42May 9, 2024
Brittle cornea syndrome 11Jul 17, 2023
Brooke-Spiegler syndrome1Feb 10, 2022
Brown-Vialetto-van Laere syndrome 21May 26, 2023
Brugada syndrome 11Jul 17, 2023
CACNA1A-associated disorder1Jul 17, 2023
CACNA1A-related disorder4May 9, 2024
CACNA1C-related disorder1Oct 17, 2023
CASR-related disorder1May 9, 2024
CBL-related disorder3Oct 17, 2023
CDH23-related disorder1Feb 2, 2024
CHARGE syndrome4Oct 17, 2023
CHD7-related disorder2May 9, 2024
CHEK2-related disorder1Jan 18, 2023
CHRNE-related disorder1May 26, 2023
CLCN1-related disorder1Oct 14, 2022
CLN8-related disorder1Oct 14, 2022
CNOT1-related disorder1Oct 14, 2022
COACH syndrome 22Feb 10, 2022
COG5-congenital disorder of glycosylation1Feb 10, 2022
COL11A1-related disorder1Jul 17, 2023
COL1A1-related disorder1Oct 14, 2022
COL1A2-related disorder1Feb 2, 2024
COL4A1-related disorder1Jul 12, 2022
COL4A2-related disorder1Jan 18, 2023
COL4A4-related disorder1Jul 12, 2022
COL6A2-related disorder1Jul 17, 2023
CRB1-related disorder1Jul 17, 2023
CRPPA-related disorder1Jul 17, 2023
Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies1Feb 10, 2022
Cardiac valvular defect, developmental1May 9, 2024
Cardiofaciocutaneous syndrome 21May 9, 2024
Cataract 10 multiple types1Feb 10, 2022
Cataract 15 multiple types2Jul 12, 2022
Central core myopathy1Feb 10, 2022
Cerebellar atrophy with seizures and variable developmental delay1Jul 12, 2022
Cerebellar atrophy, visual impairment, and psychomotor retardation;1Oct 17, 2023
Cerebellar dysfunction with variable cognitive and behavioral abnormalities3Jul 17, 2023
Cerebral cavernous malformation2Oct 17, 2023
Cerebral cavernous malformation 32Feb 2, 2024
Char syndrome1Feb 2, 2024
Charcot-Marie-Tooth disease X-linked dominant 12Feb 2, 2024
Charcot-Marie-Tooth disease axonal type 2O2May 26, 2023
Charcot-Marie-Tooth disease type 2B21Feb 10, 2022
Charcot-Marie-Tooth disease type 4C2May 9, 2024
Childhood hypophosphatasia1Feb 10, 2022
Childhood onset GLUT1 deficiency syndrome 21Feb 10, 2022
Chilton-Okur-Chung neurodevelopmental syndrome1Oct 17, 2023
Chitayat syndrome1Feb 10, 2022
Chromosome 2q32-q33 deletion syndrome2May 26, 2023
Chudley-McCullough syndrome1Feb 10, 2022
Clark-Baraitser syndrome2Jul 12, 2022
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency3Feb 2, 2024
Classic homocystinuria1Jan 18, 2023
Coffin-Lowry syndrome1May 26, 2023
Coffin-Siris syndrome 15Oct 17, 2023
Coffin-Siris syndrome 121Feb 2, 2024
Coffin-Siris syndrome 61Oct 14, 2022
Coffin-Siris syndrome 71Apr 11, 2022
Coffin-Siris syndrome 81Feb 10, 2022
Cognitive impairment with or without cerebellar ataxia1Feb 10, 2022
Cohen syndrome4Jan 18, 2023
Colorectal cancer1Feb 10, 2022
Combined malonic and methylmalonic acidemia2May 9, 2024
Combined oxidative phosphorylation deficiency 321Feb 10, 2022
Combined oxidative phosphorylation deficiency 511May 9, 2024
Complex cortical dysplasia with other brain malformations 41Jul 12, 2022
Complex cortical dysplasia with other brain malformations 71Apr 11, 2022
Cone-rod synaptic disorder, congenital nonprogressive1Oct 17, 2023
Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency1Jul 17, 2023
Congenital anomalies of kidney and urinary tract 11May 9, 2024
Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay1Oct 14, 2022
Congenital contractures of the limbs and face, hypotonia, and developmental delay2May 26, 2023
Congenital disorder of deglycosylation 11Jan 18, 2023
Congenital disorder of glycosylation with defective fucosylation 21Jul 12, 2022
Congenital disorder of glycosylation, type Iw, autosomal dominant1Jul 12, 2022
Congenital heart defects, multiple types, 21May 26, 2023
Congenital muscular hypertrophy-cerebral syndrome1Oct 17, 2023
Congenital myasthenic syndrome 4A1Apr 11, 2022
Congenital myasthenic syndrome 4B1Apr 11, 2022
Congenital myasthenic syndrome 4C1Apr 11, 2022
Congenital myopathy with fiber type disproportion1Feb 10, 2022
Congenital myotonia, autosomal dominant form1May 9, 2024
Congenital myotonia, autosomal recessive form4Jul 17, 2023
Cornelia de Lange syndrome 11Feb 10, 2022
Cornelia de Lange syndrome 31Apr 11, 2022
Costello syndrome1Jul 12, 2022
Cowden syndrome 13May 26, 2023
Craniofrontonasal syndrome2May 9, 2024
Craniosynostosis 41Feb 10, 2022
Creatine transporter deficiency1May 26, 2023
Cystic fibrosis5Feb 2, 2024
DNA ligase IV deficiency1Feb 2, 2024
DSPP-related disorder1Oct 17, 2023
DeSanto-Shinawi syndrome due to WAC point mutation2Jul 12, 2022
Deeah syndrome2Feb 10, 2022
Deeply set eye10Dec 12, 2014
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase2Feb 10, 2022
Deficiency of acetyl-CoA acetyltransferase1May 26, 2023
Deficiency of alpha-mannosidase3Feb 2, 2024
Deficiency of iodide peroxidase2Jul 12, 2022
Deficiency of steroid 11-beta-monooxygenase1Oct 17, 2023
Dent disease type 11Feb 10, 2022
Dermatofibrosis lenticularis disseminata1Feb 10, 2022
Developmental and epileptic encephalopathy 6B1Feb 10, 2022
Developmental and epileptic encephalopathy 971Feb 10, 2022
Developmental and epileptic encephalopathy, 111Oct 17, 2023
Developmental and epileptic encephalopathy, 131Feb 10, 2022
Developmental and epileptic encephalopathy, 182Jul 17, 2023
Developmental and epileptic encephalopathy, 251Apr 11, 2022
Developmental and epileptic encephalopathy, 261Feb 10, 2022
Developmental and epileptic encephalopathy, 301Jul 12, 2022
Developmental and epileptic encephalopathy, 321Oct 14, 2022
Developmental and epileptic encephalopathy, 351Feb 10, 2022
Developmental and epileptic encephalopathy, 381Apr 11, 2022
Developmental and epileptic encephalopathy, 43May 9, 2024
Developmental and epileptic encephalopathy, 421Feb 10, 2022
Developmental and epileptic encephalopathy, 53Apr 11, 2022
Developmental and epileptic encephalopathy, 651Oct 17, 2023
Developmental and epileptic encephalopathy, 691May 26, 2023
Developmental delay and seizures with or without movement abnormalities2Oct 17, 2023
Developmental delay with dysmorphic facies and dental anomalies1Jul 17, 2023
Developmental delay with or without intellectual impairment or behavioral abnormalities3Feb 2, 2024
Developmental delay with short stature, dysmorphic facial features, and sparse hair1Apr 11, 2022
Developmental delay with variable intellectual impairment and behavioral abnormalities2Jul 12, 2022
Developmental delay, hypotonia, and impaired language2May 9, 2024
Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities1Feb 2, 2024
Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy1Oct 17, 2023
Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures2Oct 17, 2023
DiGeorge syndrome1Apr 11, 2022
Diabetes mellitus, permanent neonatal 21Oct 17, 2023
Dias-Logan syndrome3Oct 17, 2023
Diencephalic-mesencephalic junction dysplasia syndrome 11May 26, 2023
Diets-Jongmans syndrome2May 26, 2023
Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome1Feb 10, 2022
Dilated cardiomyopathy 1E1Apr 11, 2022
Duchenne muscular dystrophy2Oct 17, 2023
EEF1A2-related disorder1May 9, 2024
EYA1-related disorder1May 9, 2024
Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome1Feb 2, 2024
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant2Feb 2, 2024
Ectodermal dysplasia 15, hypohidrotic/hair type1Feb 10, 2022
Ehlers-Danlos syndrome, classic type, 12May 9, 2024
Ehlers-Danlos syndrome, kyphoscoliotic type 11Feb 10, 2022
Ehlers-Danlos syndrome, periodontal type 11Oct 17, 2023
Ehlers-Danlos syndrome, type 41Jul 17, 2023
Elsahy-Waters syndrome1Jul 17, 2023
Encephalopathy due to GLUT1 deficiency1Feb 10, 2022
Enchondromatosis1Oct 14, 2022
Epidermolysis bullosa simplex 1C, localized1Feb 10, 2022
Epidermolysis bullosa, junctional 4, intermediate2Oct 14, 2022
Epilepsy, early-onset, with or without developmental delay1Feb 10, 2022
Epilepsy, progressive myoclonic, 111Jan 18, 2022
Epileptic encephalopathy, infantile or early childhood, 12May 26, 2023
Episodic ataxia type 22Jan 18, 2023
Exostoses, multiple, type 11Jan 18, 2023
Exostoses, multiple, type 23May 9, 2024
Exudative vitreoretinopathy 51Feb 10, 2022
FARS2-related disorder1May 9, 2024
FBN1-related disorder1Jul 17, 2023
FGFR2-related disorder1Jul 12, 2022
FGFR3-related disorder1May 9, 2024
Familial X-linked hypophosphatemic vitamin D refractory rickets1Jul 17, 2023
Familial cancer of breast11May 9, 2024
Familial cylindromatosis1Feb 10, 2022
Familial hemophagocytic lymphohistiocytosis 21Feb 10, 2022
Familial hemophagocytic lymphohistiocytosis 52May 9, 2024
Familial hypercholesterolemia1Feb 2, 2024
Familial hypobetalipoproteinemia 11Feb 10, 2022
Familial hypokalemia-hypomagnesemia4Oct 17, 2023
Familial partial lipodystrophy, Dunnigan type1Jul 17, 2023
Fanconi anemia complementation group D12Oct 17, 2023
Fanconi anemia complementation group I1Jan 18, 2023
Fanconi anemia complementation group J1Jul 12, 2022
Fanconi anemia complementation group P1May 9, 2024
Feeding difficulties9Dec 12, 2014
Feingold syndrome type 12Oct 17, 2023
Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement1Apr 11, 2022
Fliedner-Zweier syndrome1Feb 2, 2024
Focal dermal hypoplasia1Feb 9, 2021
Focal segmental glomerulosclerosis and neurodevelopmental syndrome1Jul 12, 2022
Frontometaphyseal dysplasia 11Feb 2, 2024
Frontotemporal dementia and/or amyotrophic lateral sclerosis 41Jul 12, 2022
GBA1-related disorder1May 9, 2024
GLB1-related disorder1Jul 17, 2023
GNB5-related disorder1Feb 2, 2024
Galactosylceramide beta-galactosidase deficiency2Jul 17, 2023
Galloway-Mowat syndrome 34Apr 19, 2022
Galloway-Mowat syndrome 42Apr 11, 2022
Generalized hypotonia1Aug 28, 2018
Genitourinary and/or brain malformation syndrome1Feb 10, 2022
Global developmental delay1Aug 28, 2018
Global developmental delay with or without impaired intellectual development2Feb 2, 2024
Global developmental delay with speech and behavioral abnormalities1Jan 18, 2023
Glomuvenous malformation2Jan 18, 2023
Glucose-6-phosphate transport defect2Oct 17, 2023
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA1Oct 17, 2023
Glycogen storage disease type III5Jul 17, 2023
Glycogen storage disease, type II2Oct 17, 2023
HCN4-related disorder1Oct 17, 2023
HFE-related disorder1Jul 12, 2022
HSPA9-related disorder1Oct 17, 2023
Hb SS disease1Oct 14, 2022
Hearing loss, autosomal recessive 571Feb 10, 2022
Hemochromatosis type 11Apr 11, 2022
Hereditary antithrombin deficiency1Oct 17, 2023
Hereditary breast ovarian cancer syndrome2May 26, 2023
Hereditary factor IX deficiency disease1Feb 10, 2022
Hereditary fructosuria1Feb 10, 2022
Hereditary spastic paraplegia 42May 26, 2023
Hereditary spastic paraplegia 451Apr 11, 2022
Hereditary spastic paraplegia 481May 26, 2023
Hereditary spastic paraplegia 491May 9, 2024
Hereditary spastic paraplegia 501May 26, 2023
Hereditary spastic paraplegia 71Oct 17, 2023
Hereditary spherocytosis type 31May 26, 2023
Hogue-Janssens syndrome 12Feb 2, 2024
Holt-Oram syndrome1May 26, 2023
Houge-Janssens syndrome 31Apr 11, 2022
Hurler syndrome1Feb 10, 2022
Hutchinson-Gilford syndrome1Jul 17, 2023
Hydrocephalus, nonsyndromic, autosomal recessive 22Jul 12, 2022
Hydrolethalus syndrome 21Feb 10, 2022
Hypercalcemia, infantile, 11May 9, 2024
Hypercholesterolemia, autosomal dominant, type B2Feb 10, 2022
Hypercholesterolemia, familial, 18Oct 17, 2023
Hyperinsulinism due to INSR deficiency1Oct 14, 2022
Hyperlysinemia1Feb 10, 2022
Hyperphosphatasia with intellectual disability syndrome 12Oct 17, 2023
Hypertrophic cardiomyopathy 42Feb 2, 2024
Hypochondroplasia1Oct 17, 2023
Hypogonadotropic hypogonadism 5 with or without anosmia1Apr 11, 2022
Hypohidrotic X-linked ectodermal dysplasia4Oct 17, 2023
Hypokalemic periodic paralysis, type 21Oct 14, 2022
Hypomyelinating leukodystrophy 101Feb 10, 2022
Hypomyelinating leukodystrophy 111Apr 11, 2022
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism2Oct 17, 2023
Hypophosphatemic rickets, X-linked recessive1Feb 10, 2022
Hypopigmentation, organomegaly, and delayed myelination and development1Feb 10, 2022
Hypoplastic left heart syndrome1Feb 2, 2024
Hypothyroidism due to TSH receptor mutations1Jul 17, 2023
Hypotonia, infantile, with psychomotor retardation and characteristic facies 31Oct 14, 2022
INPP5E-related disorder1Feb 2, 2024
IRF6-related disorder1May 9, 2024
Ichthyosis vulgaris10May 9, 2024
Idiopathic basal ganglia calcification 11Feb 10, 2022
Immunodeficiency, common variable, 22Jul 17, 2023
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly1Oct 14, 2022
Infantile hypophosphatasia1Feb 10, 2022
Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome1Oct 14, 2022
Infantile nephronophthisis1Feb 10, 2022
Intellectual developmental disorder 611Jul 17, 2023
Intellectual developmental disorder 621Oct 17, 2023
Intellectual developmental disorder and retinitis pigmentosa; IDDRP1Apr 11, 2022
Intellectual developmental disorder with autism and macrocephaly1Feb 2, 2024
Intellectual developmental disorder with autistic features and language delay, with or without seizures2Feb 2, 2024
Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures1Oct 17, 2023
Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities1Feb 10, 2022
Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies1May 26, 2023
Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold3Jul 12, 2022
Intellectual developmental disorder with impaired language and dysmorphic facies1Jul 12, 2022
Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism1Oct 14, 2022
Intellectual developmental disorder with or without epilepsy or cerebellar ataxia2Jul 17, 2023
Intellectual developmental disorder with seizures and language delay3Oct 17, 2023
Intellectual developmental disorder with speech delay and axonal peripheral neuropathy1Feb 10, 2022
Intellectual developmental disorder with speech delay, autism, and dysmorphic facies1Jul 17, 2023
Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies1Oct 14, 2022
Intellectual developmental disorder, autosomal dominant 63, with macrocephaly1Oct 17, 2023
Intellectual developmental disorder, autosomal dominant 642Feb 2, 2024
Intellectual developmental disorder, autosomal dominant 651Jan 18, 2023
Intellectual developmental disorder, autosomal dominant 661Oct 17, 2023
Intellectual developmental disorder, autosomal dominant 681Feb 2, 2024
Intellectual developmental disorder, autosomal recessive 671Jul 17, 2023
Intellectual developmental disorder, autosomal recessive 681Jan 18, 2023
Intellectual disability11May 14, 2020
Intellectual disability, X-linked 12Jul 17, 2023
Intellectual disability, X-linked 1001Jul 12, 2022
Intellectual disability, X-linked 1023May 30, 2024
Intellectual disability, X-linked 1041May 9, 2024
Intellectual disability, X-linked 1071Oct 17, 2023
Intellectual disability, X-linked 212Jul 17, 2023
Intellectual disability, X-linked 491May 9, 2024
Intellectual disability, X-linked 903Oct 17, 2023
Intellectual disability, X-linked 931Oct 14, 2022
Intellectual disability, X-linked syndromic, Turner type1Jul 12, 2022
Intellectual disability, X-linked, syndromic 331Feb 10, 2022
Intellectual disability, X-linked, syndromic, Bain type1Feb 10, 2022
Intellectual disability, X-linked, syndromic, Houge type1May 26, 2023
Intellectual disability, autosomal dominant 11Jul 12, 2022
Intellectual disability, autosomal dominant 132Jan 18, 2023
Intellectual disability, autosomal dominant 203Feb 2, 2024
Intellectual disability, autosomal dominant 221Oct 14, 2022
Intellectual disability, autosomal dominant 242Oct 14, 2022
Intellectual disability, autosomal dominant 271May 9, 2024
Intellectual disability, autosomal dominant 301Jul 17, 2023
Intellectual disability, autosomal dominant 394Jul 17, 2023
Intellectual disability, autosomal dominant 411May 26, 2023
Intellectual disability, autosomal dominant 422May 9, 2024
Intellectual disability, autosomal dominant 433Feb 2, 2024
Intellectual disability, autosomal dominant 452Apr 11, 2022
Intellectual disability, autosomal dominant 481May 9, 2024
Intellectual disability, autosomal dominant 51Feb 10, 2022
Intellectual disability, autosomal dominant 504May 9, 2024
Intellectual disability, autosomal dominant 524Oct 17, 2023
Intellectual disability, autosomal dominant 561Oct 14, 2022
Intellectual disability, autosomal dominant 571Feb 2, 2024
Intellectual disability, autosomal dominant 582May 26, 2023
Intellectual disability, autosomal dominant 63Jul 17, 2023
Intellectual disability, autosomal recessive 11Apr 11, 2022
Intellectual disability, autosomal recessive 271Feb 10, 2022
Intellectual disability, autosomal recessive 531Jan 18, 2023
Intellectual disability, autosomal recessive 581Jul 17, 2023
Intellectual disability, autosomal recessive 651Jul 12, 2022
Intellectual disability, autosomal recessive 71Oct 14, 2022
Intellectual disability, severe1Aug 28, 2018
Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome1Jul 17, 2023
Intellectual disability-hypotonic facies syndrome, X-linked, 11Jul 17, 2023
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome2Oct 14, 2022
Intellectual disability-severe speech delay-mild dysmorphism syndrome1Feb 2, 2024
Interstitial lung disease due to ABCA3 deficiency1May 26, 2023
Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency2Oct 14, 2022
Iodotyrosyl coupling defect2Oct 17, 2023
Isolated thyroid-stimulating hormone deficiency1Jan 18, 2023
Isovaleryl-CoA dehydrogenase deficiency2May 26, 2023
Joubert syndrome 211Feb 10, 2022
Joubert syndrome 232Feb 10, 2022
Joubert syndrome 261Feb 10, 2022
Joubert syndrome 361May 26, 2023
Joubert syndrome 371Jul 12, 2022
Joubert syndrome 52Feb 10, 2022
Joubert syndrome 81Feb 10, 2022
Joubert syndrome 92Feb 10, 2022
Juvenile onset Parkinson disease 19A1Apr 11, 2022
KARS1-related disorder1Jul 17, 2023
KAT6B-related disorder1Jul 17, 2023
KBG syndrome5May 9, 2024
KCNH1-related disorder1May 26, 2023
KCNQ2-related disorder1Jul 17, 2023
KDM2B-related disorder1May 9, 2024
KIAA0753-related disorder1Jul 12, 2022
Kabuki syndrome 12May 26, 2023
Kabuki syndrome 22May 9, 2024
Kartagener syndrome1May 26, 2023
Ketoacidosis due to monocarboxylate transporter-1 deficiency1Jan 18, 2023
Kleefstra syndrome 14Jul 17, 2023
Kleefstra syndrome 22Jul 17, 2023
Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome1Feb 10, 2022
Kohlschutter-Tonz syndrome-like1Jan 18, 2023
Koolen-de Vries syndrome1Feb 10, 2022
LSS-related disorder1Feb 2, 2024
Lamb-Shaffer syndrome1Jul 17, 2023
Leber congenital amaurosis 101Feb 10, 2022
Left ventricular noncompaction 101Jul 12, 2022
Legius syndrome4Jul 17, 2023
Leukodystrophy, hypomyelinating, 151Feb 10, 2022
Leukodystrophy, hypomyelinating, 171Jan 18, 2023
Leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy1May 9, 2024
Li-Fraumeni syndrome 11Feb 2, 2024
Li-Fraumeni syndrome 24May 9, 2024
Lipoyl transferase 1 deficiency1Jul 17, 2023
Lissencephaly 9 with complex brainstem malformation1Apr 11, 2022
Lissencephaly due to LIS1 mutation1Feb 10, 2022
Lissencephaly due to TUBA1A mutation2Feb 2, 2024
Loeys-Dietz syndrome 21Jan 18, 2023
Long QT syndrome 12Feb 2, 2024
Long QT syndrome 21May 26, 2023
Long QT syndrome 31Apr 11, 2022
Lymphatic malformation 61May 26, 2023
Lynch syndrome 51Feb 10, 2022
MEGF8-related Carpenter syndrome1Jul 12, 2022
MIRAGE syndrome1Oct 17, 2023
MSX1-related disorder1Jan 18, 2023
MYBPC3-related disorder2Oct 17, 2023
MYH7-related disorder1Feb 2, 2024
Macrocephaly-autism syndrome1Feb 10, 2022
Macrocephaly-developmental delay syndrome3Oct 17, 2023
Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome1Feb 10, 2022
Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome1Oct 17, 2023
Maffucci syndrome1Oct 14, 2022
Malignant tumor of breast1Oct 17, 2023
Malignant tumor of prostate1Feb 10, 2022
Maple syrup urine disease1Feb 10, 2022
Marfan syndrome2May 9, 2024
Matthew-Wood syndrome1Feb 10, 2022
Meckel syndrome, type 41Feb 10, 2022
Meckel syndrome, type 62Feb 10, 2022
Medium-chain acyl-coenzyme A dehydrogenase deficiency3Feb 2, 2024
Medullary thyroid carcinoma1Oct 17, 2023
Megalencephalic leukoencephalopathy with subcortical cysts 11Jan 18, 2023
Megalencephaly-capillary malformation-polymicrogyria syndrome1Feb 10, 2022
Menke-Hennekam syndrome 12Oct 14, 2022
Merosin deficient congenital muscular dystrophy3Oct 7, 2022
Metaphyseal chondrodysplasia, Schmid type1May 9, 2024
Metaphyseal chondromatosis1Oct 17, 2023
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency1Feb 10, 2022
Methylmalonic aciduria, cblA type1Apr 11, 2022
Microcephalic primordial dwarfism, Alazami type1May 26, 2023
Microcephaly10Dec 12, 2014
Microcephaly 18, primary, autosomal dominant1Feb 10, 2022
Microcephaly 5, primary, autosomal recessive2Oct 14, 2022
Microcephaly, normal intelligence and immunodeficiency1Jul 12, 2022
Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome2Oct 17, 2023
Migraine, familial hemiplegic, 11Feb 10, 2022
Migraine, familial hemiplegic, 21Feb 10, 2022
Mirror movements 13Feb 2, 2024
Mismatch repair cancer syndrome 31Jul 12, 2022
Mitchell syndrome1Oct 17, 2023
Mitochondrial DNA depletion syndrome 4b2Feb 10, 2022
Mitochondrial complex 1 deficiency, nuclear type 41May 9, 2024
Mitochondrial complex 2 deficiency, nuclear type 31Oct 14, 2022
Mitochondrial complex II deficiency, nuclear type 11Apr 11, 2022
Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency1Jan 18, 2023
Mucopolysaccharidosis, MPS-I-H/S1Feb 10, 2022
Mucopolysaccharidosis, MPS-I-S1Feb 10, 2022
Mucopolysaccharidosis, MPS-II1Jul 31, 2020
Mucopolysaccharidosis, MPS-III-A1Apr 11, 2022
Mucopolysaccharidosis, MPS-III-B1Feb 10, 2022
Multiple acyl-CoA dehydrogenase deficiency2Oct 14, 2022
Multiple congenital anomalies-hypotonia-seizures syndrome 11May 9, 2024
Multiple endocrine neoplasia II1Oct 17, 2023
Multiple mitochondrial dysfunctions syndrome 21Jul 12, 2022
Multiple sulfatase deficiency3Jan 18, 2023
Muscular dystrophy, limb-girdle, autosomal recessive 231Feb 10, 2022
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 71Jul 17, 2023
Myasthenic syndrome, congenital, 24, presynaptic1Apr 11, 2022
Myhre syndrome2Oct 17, 2023
Myoclonic-astatic epilepsy2Oct 17, 2023
Myoclonic-atonic epilepsy1Feb 2, 2024
NEB-related disorder1May 26, 2023
NF1-related disorder4May 9, 2024
NKX2-1-related disorder1Jul 12, 2022
NR0B1-related disorder1Jul 12, 2022
Nail-patella syndrome2May 9, 2024
Nemaline myopathy 23Feb 2, 2024
Nephropathic cystinosis1Oct 17, 2023
Neurodegeneration with brain iron accumulation 54May 9, 2024
Neurodegeneration with brain iron accumulation 61Jul 12, 2022
Neurodevelopmental disorder4Feb 2, 2024
Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity1Apr 11, 2022
Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction2May 9, 2024
Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities3May 9, 2024
Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies2Feb 2, 2024
Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum1Feb 2, 2024
Neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia1Feb 10, 2022
Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy1Jan 18, 2023
Neurodevelopmental disorder with hypotonia and gross motor and speech delay1May 26, 2023
Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities2May 9, 2024
Neurodevelopmental disorder with hypotonia, seizures, and absent language1Oct 17, 2023
Neurodevelopmental disorder with language impairment and behavioral abnormalities1Feb 2, 2024
Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment1Jul 17, 2023
Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy1Feb 10, 2022
Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures4Jul 17, 2023
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart1Apr 11, 2022
Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies1Jan 18, 2023
Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures2Jul 17, 2023
Neurodevelopmental disorder with seizures and speech and walking impairment1Jan 18, 2023
Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities3Dec 1, 2023
Neurofibromatosis, type 122May 9, 2024
Neurofibromatosis-Noonan syndrome2May 9, 2024
Neurological syndrome with pontocerebellar hypoplasia1Jan 18, 2023
Neuronal ceroid lipofuscinosis 81Jan 18, 2023
Neuroocular syndrome2May 26, 2023
Neuropathy, hereditary motor and sensory, type 6B1Feb 10, 2022
Niemann-Pick disease, type A1Oct 14, 2022
Niemann-Pick disease, type C12Feb 10, 2022
Nijmegen breakage syndrome-like disorder1Jan 18, 2023
Nizon-Isidor syndrome1Oct 17, 2023
Non-ketotic hyperglycinemia2Oct 17, 2023
Noonan syndrome 15Feb 2, 2024
Noonan syndrome 101Oct 17, 2023
Noonan syndrome 31Apr 11, 2022
Noonan syndrome 41Jul 17, 2023
Noonan syndrome 81Oct 14, 2022
Norman-Roberts syndrome1Jan 18, 2023
Nystagmus 1, congenital, X-linked1May 26, 2023
O'Donnell-Luria-Rodan syndrome2Jul 17, 2023
OFD1-related disorder1Jul 12, 2022
Ocular albinism, type I1Oct 14, 2022
Oculocutaneous albinism type 1B1Feb 10, 2022
Oculocutaneous albinism type 32Feb 10, 2022
Oculodentodigital dysplasia1Feb 10, 2022
Oculofaciocardiodental syndrome2May 9, 2024
Okur-Chung neurodevelopmental syndrome2Oct 17, 2023
Oligodontia-cancer predisposition syndrome1Jul 17, 2023
Ornithine carbamoyltransferase deficiency1Oct 17, 2023
Osteogenesis imperfecta type 81May 26, 2023
Osteogenesis imperfecta type I1Feb 10, 2022
PALB2-related disorder1Oct 17, 2023
PDE6B-related disorder1Oct 17, 2023
PI4KA-related disorder1Oct 14, 2022
PIK3CA-related disorder1Jul 12, 2022
PMM2-congenital disorder of glycosylation3Jul 17, 2023
POLE-related disorder1Sep 30, 2022
POLG-related disorder2Jul 12, 2022
PRRT2-related disorder1Jul 12, 2022
PTEN-related disorder2May 9, 2024
PTPN11-related disorder1Oct 17, 2023
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome1Feb 10, 2022
Pallister-Hall syndrome1Jan 18, 2023
Palmoplantar keratoderma, epidermolytic1Feb 10, 2022
Parkinsonian-pyramidal syndrome1Jan 18, 2023
Pendred syndrome3Jul 12, 2022
Peroxisome biogenesis disorder 1A (Zellweger)1Feb 10, 2022
Peters plus syndrome1May 26, 2023
Phelan-McDermid syndrome19May 9, 2024
Phenylketonuria7May 9, 2024
Pierpont syndrome1Oct 14, 2022
Pilarowski-Bjornsson syndrome1Oct 14, 2022
Pitt-Hopkins syndrome2May 9, 2024
Pituitary hormone deficiency, combined or isolated, 81Feb 2, 2024
Poirier-Bienvenu neurodevelopmental syndrome1Feb 10, 2022
Polycystic kidney disease 22Oct 14, 2022
Polycystic kidney disease 3 with or without polycystic liver disease1May 26, 2023
Polycystic kidney disease 42Apr 11, 2022
Polycystic kidney disease, adult type5Jul 12, 2022
Pontocerebellar hypoplasia type 1B1Feb 10, 2022
Pontocerebellar hypoplasia type 2A1Feb 10, 2022
Pontocerebellar hypoplasia type 2B1May 9, 2024
Pontocerebellar hypoplasia type 41Feb 10, 2022
Pontocerebellar hypoplasia type 51Feb 10, 2022
Pontocerebellar hypoplasia type 62Feb 2, 2024
Pontocerebellar hypoplasia type 71Apr 11, 2022
Pontocerebellar hypoplasia, type 1E1Feb 10, 2022
Porencephaly 21Jan 18, 2023
Porphobilinogen synthase deficiency1Jan 18, 2023
Primary ciliary dyskinesia 221Oct 17, 2023
Primary coenzyme Q10 deficiency 81May 26, 2023
Progeroid and marfanoid aspect-lipodystrophy syndrome1May 9, 2024
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 12Feb 2, 2024
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 12Feb 10, 2022
Progressive osseous heteroplasia1Feb 10, 2022
Progressive scapulohumeroperoneal distal myopathy1Feb 10, 2022
Progressive sclerosing poliodystrophy2Feb 10, 2022
Propionic acidemia2May 26, 2023
Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis1Feb 10, 2022
Pseudohypoparathyroidism type 1B1Feb 10, 2022
Pseudohypoparathyroidism type 1C1Feb 10, 2022
Pseudohypoparathyroidism type I A1Feb 10, 2022
Pseudopseudohypoparathyroidism2Feb 10, 2022
Pulmonary hypertension, primary, 11Oct 17, 2023
Pyruvate dehydrogenase E1-alpha deficiency1May 26, 2023
RAF1-related disorder1May 9, 2024
RELN-related disorder1Jul 17, 2023
RPS6KA3-related disorder1May 26, 2023
RYR1-related disorder1Jul 17, 2023
RYR2-related disorder2Oct 17, 2023
Radio-Tartaglia syndrome1Jul 17, 2023
Rauch-Steindl syndrome1Apr 11, 2022
Renpenning syndrome7Jun 7, 2022
Retinitis pigmentosa 131May 9, 2024
Retinitis pigmentosa 251Feb 2, 2024
Retinitis pigmentosa 391Feb 10, 2022
Retinoblastoma1Jan 18, 2023
Rett syndrome6May 9, 2024
Rett syndrome, congenital variant2Feb 2, 2024
Rienhoff syndrome1Feb 2, 2024
Ritscher-Schinzel syndrome 22Jul 12, 2022
Rothmund-Thomson syndrome type 21Feb 10, 2022
Rubinstein-Taybi syndrome due to CREBBP mutations3Jul 17, 2023
SAG-related disorder1May 9, 2024
SCN2A-related disorder1May 9, 2024
SCN8A-related disorder1Jul 17, 2023
SDHB-related disorder1May 9, 2024
SETD2-related disorder1May 9, 2024
SHANK1-related autism1May 26, 2023
SLC26A4-related disorder3Jan 18, 2023
SLC2A1-related disorder1May 9, 2024
SLC34A1-related disorder1May 14, 2024
SLC35A2-congenital disorder of glycosylation1Feb 10, 2022
SOX10-related disorder1Oct 14, 2022
SURF1-related disorder1May 9, 2024
SchC6pf-Schulz-Passarge syndrome2Feb 10, 2022
Schaaf-Yang syndrome1Oct 17, 2023
Schwannomatosis 21May 9, 2024
Seizure8Dec 12, 2014
Seizures, benign familial infantile, 51Feb 10, 2022
Seizures-scoliosis-macrocephaly syndrome1Apr 11, 2022
Senior-Loken syndrome 61Feb 10, 2022
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis4Feb 2, 2024
Severe X-linked mitochondrial encephalomyopathy1Apr 13, 2021
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome2May 9, 2024
Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome2Oct 17, 2023
Severe intellectual disability-progressive spastic diplegia syndrome1Oct 14, 2022
Severe myoclonic epilepsy in infancy1Feb 10, 2022
Shashi-Pena syndrome1Jul 12, 2022
Short QT syndrome type 21Feb 10, 2022
Short-rib thoracic dysplasia 14 with polydactyly1Feb 10, 2022
Skraban-Deardorff syndrome1Jul 12, 2022
Smith-Lemli-Opitz syndrome2Feb 10, 2022
Smith-Magenis syndrome1May 26, 2023
Snijders Blok-Campeau syndrome4May 9, 2024
Sotos syndrome2Feb 2, 2024
Spinocerebellar ataxia 501May 8, 2024
Spinocerebellar ataxia type 211May 9, 2024
Spinocerebellar ataxia type 61Feb 10, 2022
Spondylocostal dysostosis 1, autosomal recessive2Jul 17, 2023
Spondyloepiphyseal dysplasia congenita1Jan 18, 2023
Spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis1Apr 11, 2022
Sterol carrier protein 2 deficiency1Oct 17, 2023
Stickler syndrome type 14Feb 2, 2024
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B2Oct 17, 2023
Sweeney-Cox syndrome1May 9, 2024
Syndromic X-linked intellectual disability 941Feb 2, 2024
Syndromic X-linked intellectual disability Claes-Jensen type1Feb 10, 2022
Syndromic X-linked intellectual disability Najm type1Oct 17, 2023
TBL1XR1-related disorder1Jul 17, 2023
TCF12-related craniosynostosis1Feb 2, 2024
TNFRSF9-related disorder1Oct 14, 2022
TNNT2-related disorder1Oct 14, 2022
TPP1-related disorder1May 9, 2024
TRIO-related disorder1Oct 17, 2023
TRPS1-related disorder1Jul 17, 2023
TUBB3-related disorder1May 9, 2024
TWIST1-related disorder1Jul 17, 2023
TWNK-related disorder1Jul 17, 2023
TYR-related disorder2Oct 17, 2023
Telangiectasia, hereditary hemorrhagic, type 12Jan 18, 2023
Telangiectasia, hereditary hemorrhagic, type 23Oct 14, 2022
Tessadori-Van Haaften neurodevelopmental syndrome 31May 9, 2024
Testosterone 17-beta-dehydrogenase deficiency1Jul 17, 2023
Thyroid hormone metabolism, abnormal 11Jul 12, 2022
Timothy syndrome1Oct 17, 2023
Tolchin-Le Caignec syndrome1Jan 18, 2023
Tooth agenesis, selective, 43May 9, 2024
Tooth agenesis, selective, 71Jul 17, 2023
Tooth agenesis, selective, X-linked, 11Feb 10, 2022
Townes-Brocks syndrome 11Feb 2, 2024
Treacher Collins syndrome 11Feb 10, 2022
Trichoepithelioma, multiple familial, 11Feb 10, 2022
Trichohepatoenteric syndrome 21Oct 17, 2023
Trichorhinophalangeal dysplasia type I1Jul 17, 2023
Trichorhinophalangeal syndrome, type III1Feb 2, 2024
Trichothiodystrophy 1, photosensitive2Oct 14, 2022
Tuberous sclerosis 11May 9, 2024
Tuberous sclerosis 21Oct 25, 2023
Tumoral calcinosis, hyperphosphatemic, familial, 12Jul 17, 2023
Tyrosinase-positive oculocutaneous albinism4Feb 2, 2024
UGT1A1-related disorder1Jul 12, 2022
Ullrich congenital muscular dystrophy 1A1Jul 17, 2023
Uncombable hair syndrome 11Oct 17, 2023
Upshaw-Schulman syndrome1Feb 10, 2022
Usher syndrome type 2A1Oct 14, 2022
Van Maldergem syndrome 21Oct 14, 2022
Variable neurodevelopmental disorder1Jul 17, 2023
Ververi-Brady syndrome5May 9, 2024
Very long chain acyl-CoA dehydrogenase deficiency1Feb 10, 2022
Von Hippel-Lindau syndrome1Feb 10, 2022
WFS1-related disorder1Jul 12, 2022
WNT10A-related disorder1May 9, 2024
WT1-related disorder1May 26, 2023
Weiss-kruszka syndrome1Feb 2, 2024
Wiedemann-Steiner syndrome4Feb 2, 2024
Wilson disease2Oct 17, 2023
Wolfram syndrome 12May 26, 2023
X-linked Alport syndrome3Oct 17, 2023
X-linked intellectual disability Cabezas type2Oct 17, 2023
X-linked intellectual disability, Cantagrel type1Feb 10, 2022
X-linked lymphoproliferative disease due to SH2D1A deficiency1Jul 12, 2022
X-linked mixed hearing loss with perilymphatic gusher1Jul 17, 2023
X-linked recessive nephrolithiasis with renal failure1Feb 10, 2022
ZTTK syndrome2May 26, 2023
beta Thalassemia1Apr 11, 2022
not provided2061May 9, 2024
not specified21Jan 20, 2015
von Willebrand disease type 21Feb 2, 2024

Testing in GTR

Disease nameNumber of tests
3-Methylglutaconic aciduria type 22 tests
3-Methylglutaconic aciduria type 31 test
3-methylcrotonyl-CoA carboxylase 1 deficiency1 test
3-methylglutaconic aciduria type 11 test
46,XY sex reversal 21 test
4p partial monosomy syndrome2 tests
7q11.23 microduplication syndrome2 tests
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder3 tests
ALG1-congenital disorder of glycosylation1 test
ALG9 congenital disorder of glycosylation1 test
ANKRD1-related dilated cardiomyopathy1 test
Aarskog syndrome1 test
Abortive cerebellar ataxia1 test
Absence seizure1 test
Achondrogenesis type II1 test
Achondroplasia2 tests
Achromatopsia 21 test
Achromatopsia 31 test
Achromatopsia 41 test
Achromatopsia 71 test
Acrocephalosyndactyly type I2 tests
Actin accumulation myopathy2 tests
Action myoclonus-renal failure syndrome1 test
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins1 test
Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome1 test
Acyl-CoA oxidase deficiency1 test
Adenylosuccinate lyase deficiency1 test
Adrenoleukodystrophy2 tests
Adult-onset foveomacular vitelliform dystrophy3 tests
Age related macular degeneration 11 test
Age related macular degeneration 21 test
Age related macular degeneration 61 test
Agenesis of the corpus callosum with peripheral neuropathy1 test
Aicardi-Goutieres syndrome 11 test
Aicardi-Goutieres syndrome 21 test
Aicardi-Goutieres syndrome 51 test
Aicardi-Goutieres syndrome 61 test
Aicardi-Goutieres syndrome 71 test
Alagille syndrome due to a JAG1 point mutation1 test
Alagille syndrome due to a NOTCH2 point mutation1 test
Allan-Herndon-Dudley syndrome1 test
Alpha thalassemia-X-linked intellectual disability syndrome2 tests
Alpha-1-antitrypsin deficiency2 tests
Alpha-N-acetylgalactosaminidase deficiency type 21 test
Alpha-methylacyl-CoA racemase deficiency1 test
Alstrom syndrome3 tests
Alternating hemiplegia of childhood 11 test
Amelocerebrohypohidrotic syndrome1 test
Amish lethal microcephaly1 test
Amyotrophic lateral sclerosis type 112 tests
Amyotrophic lateral sclerosis type 211 test
Amyotrophic lateral sclerosis type 41 test
Andersen Tawil syndrome2 tests
Aneurysm-osteoarthritis syndrome2 tests
Angelman syndrome7 tests
Anophthalmia/microphthalmia-esophageal atresia syndrome1 test
Anterior segment dysgenesis 11 test
Aortic aneurysm, familial thoracic 42 tests
Aortic aneurysm, familial thoracic 62 tests
Aortic aneurysm, familial thoracic 72 tests
Aortic valve disease 12 tests
Arginine:glycine amidinotransferase deficiency1 test
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma2 tests
Arrhythmogenic right ventricular dysplasia 11 test
Arrhythmogenic right ventricular dysplasia 103 tests
Arrhythmogenic right ventricular dysplasia 112 tests
Arrhythmogenic right ventricular dysplasia 122 tests
Arrhythmogenic right ventricular dysplasia 23 tests
Arrhythmogenic right ventricular dysplasia 52 tests
Arrhythmogenic right ventricular dysplasia 82 tests
Arrhythmogenic right ventricular dysplasia 94 tests
Arterial tortuosity syndrome2 tests
Arthrogryposis, Perthes disease, and upward gaze palsy1 test
Arthrogryposis, distal, type 1A2 tests
Arthrogryposis, distal, type 1B1 test
Arthrogryposis, distal, with impaired proprioception and touch1 test
Arthrogryposis, renal dysfunction, and cholestasis 11 test
Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome1 test
Arthyrgryposis, distal, type 2B1 test
Aspartylglucosaminuria2 tests
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia1 test
Atrial fibrillation, familial, 104 tests
Atrial fibrillation, familial, 122 tests
Atrial fibrillation, familial, 132 tests
Atrial fibrillation, familial, 142 tests
Atrial fibrillation, familial, 32 tests
Atrial fibrillation, familial, 42 tests
Atrial fibrillation, familial, 73 tests
Atrial fibrillation, familial, 92 tests
Atrial septal defect 32 tests
Atrial septal defect 53 tests
Atrial septal defect 71 test
Autism spectrum disorder1 test
Autoimmune interstitial lung disease-arthritis syndrome2 tests
Autoinflammatory syndrome, familial, Behcet-like1 test
Autosomal dominant Alport syndrome1 test
Autosomal dominant Charcot-Marie-Tooth disease type 2M2 tests
Autosomal dominant Charcot-Marie-Tooth disease type 2W1 test
Autosomal dominant auditory neuropathy 11 test
Autosomal dominant centronuclear myopathy2 tests
Autosomal dominant cerebellar ataxia, deafness and narcolepsy4 tests
Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures2 tests
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures1 test
Autosomal dominant deafness - onychodystrophy syndrome1 test
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)1 test
Autosomal dominant limb-girdle muscular dystrophy type 1F1 test
Autosomal dominant limb-girdle muscular dystrophy type 1G1 test
Autosomal dominant nocturnal frontal lobe epilepsy 11 test
Autosomal dominant nocturnal frontal lobe epilepsy 31 test
Autosomal dominant nocturnal frontal lobe epilepsy 41 test
Autosomal dominant nocturnal frontal lobe epilepsy 51 test
Autosomal dominant nonsyndromic hearing loss 11 test
Autosomal dominant nonsyndromic hearing loss 101 test
Autosomal dominant nonsyndromic hearing loss 111 test
Autosomal dominant nonsyndromic hearing loss 121 test
Autosomal dominant nonsyndromic hearing loss 132 tests
Autosomal dominant nonsyndromic hearing loss 151 test
Autosomal dominant nonsyndromic hearing loss 171 test
Autosomal dominant nonsyndromic hearing loss 201 test
Autosomal dominant nonsyndromic hearing loss 211 test
Autosomal dominant nonsyndromic hearing loss 221 test
Autosomal dominant nonsyndromic hearing loss 231 test
Autosomal dominant nonsyndromic hearing loss 251 test
Autosomal dominant nonsyndromic hearing loss 281 test
Autosomal dominant nonsyndromic hearing loss 2A1 test
Autosomal dominant nonsyndromic hearing loss 2B1 test
Autosomal dominant nonsyndromic hearing loss 361 test
Autosomal dominant nonsyndromic hearing loss 3A2 tests
Autosomal dominant nonsyndromic hearing loss 3B1 test
Autosomal dominant nonsyndromic hearing loss 401 test
Autosomal dominant nonsyndromic hearing loss 411 test
Autosomal dominant nonsyndromic hearing loss 441 test
Autosomal dominant nonsyndromic hearing loss 4A1 test
Autosomal dominant nonsyndromic hearing loss 4B1 test
Autosomal dominant nonsyndromic hearing loss 51 test
Autosomal dominant nonsyndromic hearing loss 501 test
Autosomal dominant nonsyndromic hearing loss 511 test
Autosomal dominant nonsyndromic hearing loss 62 tests
Autosomal dominant nonsyndromic hearing loss 641 test
Autosomal dominant nonsyndromic hearing loss 651 test
Autosomal dominant nonsyndromic hearing loss 671 test
Autosomal dominant nonsyndromic hearing loss 681 test
Autosomal dominant nonsyndromic hearing loss 691 test
Autosomal dominant nonsyndromic hearing loss 71 test
Autosomal dominant nonsyndromic hearing loss 701 test
Autosomal dominant nonsyndromic hearing loss 91 test
Autosomal dominant optic atrophy classic form2 tests
Autosomal dominant vitreoretinochoroidopathy2 tests
Autosomal recessive Alport syndrome1 test
Autosomal recessive amelia2 tests
Autosomal recessive ataxia, Beauce type1 test
Autosomal recessive axonal neuropathy with neuromyotonia2 tests
Autosomal recessive bestrophinopathy1 test
Autosomal recessive complex spastic paraplegia type 9B1 test
Autosomal recessive distal spinal muscular atrophy 12 tests
Autosomal recessive dyskeratosis congenita 42 tests
Autosomal recessive inherited pseudoxanthoma elasticum1 test
Autosomal recessive limb-girdle muscular dystrophy type 2A1 test
Autosomal recessive limb-girdle muscular dystrophy type 2B2 tests
Autosomal recessive limb-girdle muscular dystrophy type 2C1 test
Autosomal recessive limb-girdle muscular dystrophy type 2D1 test
Autosomal recessive limb-girdle muscular dystrophy type 2E1 test
Autosomal recessive limb-girdle muscular dystrophy type 2F3 tests
Autosomal recessive limb-girdle muscular dystrophy type 2G3 tests
Autosomal recessive limb-girdle muscular dystrophy type 2I3 tests
Autosomal recessive limb-girdle muscular dystrophy type 2J1 test
Autosomal recessive limb-girdle muscular dystrophy type 2K1 test
Autosomal recessive limb-girdle muscular dystrophy type 2L2 tests
Autosomal recessive limb-girdle muscular dystrophy type 2M2 tests
Autosomal recessive limb-girdle muscular dystrophy type 2N1 test
Autosomal recessive limb-girdle muscular dystrophy type 2O1 test
Autosomal recessive limb-girdle muscular dystrophy type 2P1 test
Autosomal recessive limb-girdle muscular dystrophy type 2Q1 test
Autosomal recessive limb-girdle muscular dystrophy type 2T1 test
Autosomal recessive limb-girdle muscular dystrophy type 2U1 test
Autosomal recessive limb-girdle muscular dystrophy type 2W1 test
Autosomal recessive limb-girdle muscular dystrophy type 2Y1 test
Autosomal recessive limb-girdle muscular dystrophy type R181 test
Autosomal recessive multiple pterygium syndrome2 tests
Autosomal recessive nonsyndromic hearing loss 1011 test
Autosomal recessive nonsyndromic hearing loss 1021 test
Autosomal recessive nonsyndromic hearing loss 1031 test
Autosomal recessive nonsyndromic hearing loss 1041 test
Autosomal recessive nonsyndromic hearing loss 121 test
Autosomal recessive nonsyndromic hearing loss 151 test
Autosomal recessive nonsyndromic hearing loss 163 tests
Autosomal recessive nonsyndromic hearing loss 18A1 test
Autosomal recessive nonsyndromic hearing loss 18B1 test
Autosomal recessive nonsyndromic hearing loss 1A3 tests
Autosomal recessive nonsyndromic hearing loss 1B1 test
Autosomal recessive nonsyndromic hearing loss 21 test
Autosomal recessive nonsyndromic hearing loss 211 test
Autosomal recessive nonsyndromic hearing loss 221 test
Autosomal recessive nonsyndromic hearing loss 231 test
Autosomal recessive nonsyndromic hearing loss 241 test
Autosomal recessive nonsyndromic hearing loss 251 test
Autosomal recessive nonsyndromic hearing loss 281 test
Autosomal recessive nonsyndromic hearing loss 291 test
Autosomal recessive nonsyndromic hearing loss 31 test
Autosomal recessive nonsyndromic hearing loss 301 test
Autosomal recessive nonsyndromic hearing loss 311 test
Autosomal recessive nonsyndromic hearing loss 321 test
Autosomal recessive nonsyndromic hearing loss 351 test
Autosomal recessive nonsyndromic hearing loss 361 test
Autosomal recessive nonsyndromic hearing loss 371 test
Autosomal recessive nonsyndromic hearing loss 391 test
Autosomal recessive nonsyndromic hearing loss 41 test
Autosomal recessive nonsyndromic hearing loss 421 test
Autosomal recessive nonsyndromic hearing loss 481 test
Autosomal recessive nonsyndromic hearing loss 491 test
Autosomal recessive nonsyndromic hearing loss 531 test
Autosomal recessive nonsyndromic hearing loss 591 test
Autosomal recessive nonsyndromic hearing loss 61 test
Autosomal recessive nonsyndromic hearing loss 611 test
Autosomal recessive nonsyndromic hearing loss 631 test
Autosomal recessive nonsyndromic hearing loss 661 test
Autosomal recessive nonsyndromic hearing loss 671 test
Autosomal recessive nonsyndromic hearing loss 681 test
Autosomal recessive nonsyndromic hearing loss 71 test
Autosomal recessive nonsyndromic hearing loss 701 test
Autosomal recessive nonsyndromic hearing loss 741 test
Autosomal recessive nonsyndromic hearing loss 761 test
Autosomal recessive nonsyndromic hearing loss 771 test
Autosomal recessive nonsyndromic hearing loss 791 test
Autosomal recessive nonsyndromic hearing loss 81 test
Autosomal recessive nonsyndromic hearing loss 84A1 test
Autosomal recessive nonsyndromic hearing loss 84B1 test
Autosomal recessive nonsyndromic hearing loss 861 test
Autosomal recessive nonsyndromic hearing loss 881 test
Autosomal recessive nonsyndromic hearing loss 891 test
Autosomal recessive nonsyndromic hearing loss 91 test
Autosomal recessive nonsyndromic hearing loss 911 test
Autosomal recessive nonsyndromic hearing loss 931 test
Autosomal recessive nonsyndromic hearing loss 981 test
Autosomal recessive optic atrophy, OPA7 type1 test
Autosomal recessive polycystic kidney disease1 test
Autosomal recessive proximal renal tubular acidosis1 test
Autosomal recessive pseudohypoaldosteronism type 12 tests
Autosomal recessive spastic paraplegia type 761 test
Autosomal recessive spastic paraplegia type 781 test
Autosomal recessive spinocerebellar ataxia 121 test
Axenfeld-Rieger syndrome type 11 test
Ayme-Gripp syndrome1 test
Azorean disease2 tests
Bailey-Bloch congenital myopathy1 test
Bannayan-Riley-Ruvalcaba syndrome2 tests
Baraitser-winter syndrome 21 test
Bardet-Biedl syndrome 12 tests
Bardet-Biedl syndrome 101 test
Bardet-Biedl syndrome 111 test
Bardet-Biedl syndrome 121 test
Bardet-Biedl syndrome 132 tests
Bardet-Biedl syndrome 141 test
Bardet-Biedl syndrome 151 test
Bardet-Biedl syndrome 161 test
Bardet-Biedl syndrome 171 test
Bardet-Biedl syndrome 181 test
Bardet-Biedl syndrome 191 test
Bardet-Biedl syndrome 21 test
Bardet-Biedl syndrome 31 test
Bardet-Biedl syndrome 41 test
Bardet-Biedl syndrome 51 test
Bardet-Biedl syndrome 61 test
Bardet-Biedl syndrome 71 test
Bardet-Biedl syndrome 82 tests
Bardet-Biedl syndrome 91 test
Bardet-biedl syndrome 211 test
Bartsocas-Papas syndrome 11 test
Bartter disease type 31 test
Bartter disease type 4A1 test
Bartter disease type 4B1 test
Beare-Stevenson cutis gyrata syndrome2 tests
Becker muscular dystrophy2 tests
Beckwith-Wiedemann syndrome6 tests
Benign recurrent intrahepatic cholestasis type 11 test
Benign recurrent intrahepatic cholestasis type 21 test
Beta-D-mannosidosis2 tests
Bethlem myopathy 1A1 test
Bethlem myopathy 21 test
Bietti crystalline corneoretinal dystrophy1 test
Bifunctional peroxisomal enzyme deficiency1 test
Bile acid malabsorption, primary, 11 test
Biotinidase deficiency2 tests
Birt-Hogg-Dube syndrome1 test
Bone fragility with contractures, arterial rupture, and deafness1 test
Borjeson-Forssman-Lehmann syndrome3 tests
Bosch-Boonstra-Schaaf optic atrophy syndrome1 test
Brachydactyly-elbow wrist dysplasia syndrome1 test
Brain small vessel disease 1 with or without ocular anomalies1 test
Brain-lung-thyroid syndrome3 tests
Branchiootic syndrome 11 test
Branchiootorenal syndrome 11 test
Brittle cornea syndrome 11 test
Brittle cornea syndrome 21 test
Brody myopathy2 tests
Bronchiectasis with or without elevated sweat chloride 12 tests
Bronchiectasis with or without elevated sweat chloride 22 tests
Brown-Vialetto-van Laere syndrome 11 test
Brown-Vialetto-van Laere syndrome 21 test
Bruck syndrome 11 test
Bruck syndrome 21 test
Brugada syndrome1 test
Brugada syndrome 14 tests
Brugada syndrome 22 tests
Brugada syndrome 33 tests
Brugada syndrome 42 tests
Brugada syndrome 52 tests
Brugada syndrome 62 tests
Brugada syndrome 72 tests
Brugada syndrome 82 tests
Brugada syndrome 92 tests
CBL-related disorder2 tests
CHARGE syndrome4 tests
CLAPO syndrome1 test
CLOVES syndrome1 test
COACH syndrome1 test
Cantu syndrome, KCNJ8 related2 tests
Capillary malformation-arteriovenous malformation syndrome2 tests
Cardiac arrhythmia, ankyrin-B-related2 tests
Cardiofaciocutaneous syndrome 11 test
Cardiofaciocutaneous syndrome 21 test
Cardiofaciocutaneous syndrome 32 tests
Cardiofaciocutaneous syndrome 42 tests
Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis2 tests
Cardiomyopathy, familial restrictive, 13 tests
Cardiomyopathy, familial restrictive, 33 tests
Carnitine acylcarnitine translocase deficiency1 test
Carnitine palmitoyl transferase 1A deficiency1 test
Carnitine palmitoyltransferase II deficiency2 tests
Cataract 11 multiple types1 test
Cataract 21 multiple types1 test
Catecholaminergic polymorphic ventricular tachycardia 13 tests
Catecholaminergic polymorphic ventricular tachycardia 23 tests
Catecholaminergic polymorphic ventricular tachycardia 42 tests
Catecholaminergic polymorphic ventricular tachycardia 53 tests
Central core myopathy1 test
Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease2 tests
Central hypoventilation syndrome, congenital, 2, and autonomic dysfunction1 test
Centronuclear myopathy1 test
Cerebellar atrophy with seizures and variable developmental delay1 test
Cerebellar atrophy, visual impairment, and psychomotor retardation;1 test
Cerebral cavernous malformation1 test
Cerebral cavernous malformation 21 test
Cerebral cavernous malformation 31 test
Cerebral cavernous malformation 41 test
Cerebral creatine deficiency syndrome1 test
Cerebrooculofacioskeletal syndrome 11 test
Cerebroretinal microangiopathy with calcifications and cysts 13 tests
Ceroid lipofuscinosis, neuronal, 6A2 tests
Charcot-Marie-Tooth disease X-linked dominant 11 test
Charcot-Marie-Tooth disease X-linked dominant 61 test
Charcot-Marie-Tooth disease X-linked recessive 42 tests
Charcot-Marie-Tooth disease X-linked recessive 51 test
Charcot-Marie-Tooth disease axonal type 2C2 tests
Charcot-Marie-Tooth disease axonal type 2CC1 test
Charcot-Marie-Tooth disease axonal type 2F2 tests
Charcot-Marie-Tooth disease axonal type 2K1 test
Charcot-Marie-Tooth disease axonal type 2L2 tests
Charcot-Marie-Tooth disease axonal type 2N1 test
Charcot-Marie-Tooth disease axonal type 2O2 tests
Charcot-Marie-Tooth disease axonal type 2P1 test
Charcot-Marie-Tooth disease axonal type 2Q1 test
Charcot-Marie-Tooth disease axonal type 2S2 tests
Charcot-Marie-Tooth disease axonal type 2T1 test
Charcot-Marie-Tooth disease axonal type 2U2 tests
Charcot-Marie-Tooth disease axonal type 2X1 test
Charcot-Marie-Tooth disease axonal type 2Z1 test
Charcot-Marie-Tooth disease dominant intermediate B3 tests
Charcot-Marie-Tooth disease dominant intermediate C1 test
Charcot-Marie-Tooth disease dominant intermediate D1 test
Charcot-Marie-Tooth disease dominant intermediate E1 test
Charcot-Marie-Tooth disease dominant intermediate F1 test
Charcot-Marie-Tooth disease recessive intermediate B1 test
Charcot-Marie-Tooth disease recessive intermediate C2 tests
Charcot-Marie-Tooth disease recessive intermediate D1 test
Charcot-Marie-Tooth disease type 1B1 test
Charcot-Marie-Tooth disease type 1C1 test
Charcot-Marie-Tooth disease type 1D1 test
Charcot-Marie-Tooth disease type 1E1 test
Charcot-Marie-Tooth disease type 1F1 test
Charcot-Marie-Tooth disease type 2A11 test
Charcot-Marie-Tooth disease type 2A22 tests
Charcot-Marie-Tooth disease type 2B1 test
Charcot-Marie-Tooth disease type 2B13 tests
Charcot-Marie-Tooth disease type 2B21 test
Charcot-Marie-Tooth disease type 2D2 tests
Charcot-Marie-Tooth disease type 2E1 test
Charcot-Marie-Tooth disease type 2I1 test
Charcot-Marie-Tooth disease type 2J1 test
Charcot-Marie-Tooth disease type 2R1 test
Charcot-Marie-Tooth disease type 2Y2 tests
Charcot-Marie-Tooth disease type 4A1 test
Charcot-Marie-Tooth disease type 4B11 test
Charcot-Marie-Tooth disease type 4B22 tests
Charcot-Marie-Tooth disease type 4B31 test
Charcot-Marie-Tooth disease type 4C1 test
Charcot-Marie-Tooth disease type 4D1 test
Charcot-Marie-Tooth disease type 4F1 test
Charcot-Marie-Tooth disease type 4H1 test
Charcot-Marie-Tooth disease type 4J2 tests
Charcot-Marie-Tooth disease type 4K2 tests
Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;2 tests
Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive1 test
Charcot-Marie-Tooth disease, type IA2 tests
Charlevoix-Saguenay spastic ataxia1 test
Childhood onset GLUT1 deficiency syndrome 21 test
Cholestanol storage disease1 test
Cholestasis, intrahepatic, of pregnancy, 11 test
Cholestasis, intrahepatic, of pregnancy, 31 test
Cholestasis, progressive familial intrahepatic, 41 test
Cholestasis, progressive familial intrahepatic, 51 test
Chondrodysplasia Blomstrand type1 test
Choroidal dystrophy, central areolar 21 test
Choroideremia1 test
Christianson syndrome1 test
Chudley-McCullough syndrome1 test
Chédiak-Higashi syndrome1 test
Ciliary dyskinesia, primary, 372 tests
Ciliary dyskinesia, primary, 422 tests
Citrullinemia1 test
Citrullinemia type II1 test
Classic homocystinuria2 tests
Clubfoot1 test
Coffin Siris/Intellectual Disability2 tests
Coffin-Lowry syndrome1 test
Coffin-Siris syndrome 12 tests
Coffin-Siris syndrome 51 test
Coffin-Siris syndrome 61 test
Cohen-Gibson syndrome3 tests
Combined deficiency of sialidase AND beta galactosidase3 tests
Combined immunodeficiency due to DOCK8 deficiency1 test
Combined oxidative phosphorylation defect type 131 test
Combined oxidative phosphorylation defect type 241 test
Combined oxidative phosphorylation defect type 71 test
Complete trisomy 21 syndrome2 tests
Complex cortical dysplasia with other brain malformations 11 test
Complex cortical dysplasia with other brain malformations 21 test
Complex cortical dysplasia with other brain malformations 51 test
Compton-North congenital myopathy2 tests
Cone dystrophy 31 test
Cone dystrophy 41 test
Cone dystrophy with supernormal rod response1 test
Cone-rod dystrophy 101 test
Cone-rod dystrophy 111 test
Cone-rod dystrophy 121 test
Cone-rod dystrophy 131 test
Cone-rod dystrophy 152 tests
Cone-rod dystrophy 161 test
Cone-rod dystrophy 181 test
Cone-rod dystrophy 191 test
Cone-rod dystrophy 21 test
Cone-rod dystrophy 201 test
Cone-rod dystrophy 211 test
Cone-rod dystrophy 31 test
Cone-rod dystrophy 51 test
Cone-rod dystrophy 62 tests
Cone-rod dystrophy 71 test
Cone-rod dystrophy 91 test
Cone-rod dystrophy and hearing loss 11 test
Cone-rod dystrophy and hearing loss 21 test
Cone-rod synaptic disorder, congenital nonprogressive2 tests
Congenital bile acid synthesis defect 11 test
Congenital bile acid synthesis defect 21 test
Congenital bile acid synthesis defect 31 test
Congenital bile acid synthesis defect 41 test
Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome1 test
Congenital cataracts-facial dysmorphism-neuropathy syndrome1 test
Congenital central hypoventilation2 tests
Congenital contractural arachnodactyly3 tests
Congenital contractures of the limbs and face, hypotonia, and developmental delay1 test
Congenital diarrhea 5 with tufting enteropathy1 test
Congenital disorder of glycosylation1 test
Congenital disorder of glycosylation type 1E1 test
Congenital dyserythropoietic anemia type 41 test
Congenital dyserythropoietic anemia, type I1 test
Congenital dyserythropoietic anemia, type II1 test
Congenital dyserythropoietic anemia, type III1 test
Congenital generalized lipodystrophy type 41 test
Congenital hypomyelinating neuropathy1 test
Congenital hypotrichosis with juvenile macular dystrophy1 test
Congenital lactase deficiency1 test
Congenital macrodactylia1 test
Congenital malabsorptive diarrhea 41 test
Congenital microvillous atrophy1 test
Congenital multicore myopathy with external ophthalmoplegia1 test
Congenital muscular dystrophy due to LMNA mutation2 tests
Congenital muscular dystrophy due to integrin alpha-7 deficiency1 test
Congenital muscular dystrophy due to partial LAMA2 deficiency1 test
Congenital muscular dystrophy with intellectual disability and severe epilepsy1 test
Congenital muscular hypertrophy-cerebral syndrome3 tests
Congenital myasthenic syndrome 102 tests
Congenital myasthenic syndrome 112 tests
Congenital myasthenic syndrome 141 test
Congenital myasthenic syndrome 161 test
Congenital myasthenic syndrome 202 tests
Congenital myasthenic syndrome 211 test
Congenital myasthenic syndrome 2A2 tests
Congenital myasthenic syndrome 2C2 tests
Congenital myasthenic syndrome 3A1 test
Congenital myasthenic syndrome 3B1 test
Congenital myasthenic syndrome 3C1 test
Congenital myasthenic syndrome 4A1 test
Congenital myasthenic syndrome 4B1 test
Congenital myasthenic syndrome 4C2 tests
Congenital myasthenic syndrome 51 test
Congenital myasthenic syndrome 92 tests
Congenital myopathy 232 tests
Congenital myopathy 4A, autosomal dominant2 tests
Congenital myopathy 4B, autosomal recessive2 tests
Congenital myopathy with fiber type disproportion2 tests
Congenital myopathy with internal nuclei and atypical cores1 test
Congenital myotonia, autosomal dominant form1 test
Congenital myotonia, autosomal recessive form1 test
Congenital primary aphakia1 test
Congenital secretory diarrhea, chloride type1 test
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome1 test
Congenital sodium diarrhea1 test
Congenital stationary night blindness1 test
Congenital stationary night blindness 1A1 test
Congenital stationary night blindness 1B1 test
Congenital stationary night blindness 1C1 test
Congenital stationary night blindness 1D1 test
Congenital stationary night blindness 1E1 test
Congenital stationary night blindness 1F1 test
Congenital stationary night blindness 1G1 test
Congenital stationary night blindness 1H1 test
Congenital stationary night blindness 2A1 test
Congenital stationary night blindness autosomal dominant 12 tests
Congenital stationary night blindness autosomal dominant 21 test
Congenital stationary night blindness autosomal dominant 31 test
Conotruncal heart malformations1 test
Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A1 test
Cornelia de Lange syndrome 12 tests
Cornelia de Lange syndrome 32 tests
Cornelia de Lange syndrome 42 tests
Cornelia de Lange syndrome 52 tests
Cortical dysplasia-focal epilepsy syndrome1 test
Costello syndrome5 tests
Cowden syndrome1 test
Cowden syndrome 12 tests
Cowden syndrome 51 test
Coxopodopatellar syndrome2 tests
Creatine transporter deficiency1 test
Crigler-Najjar syndrome type 11 test
Crigler-Najjar syndrome, type II1 test
Crouzon syndrome2 tests
Crouzon syndrome-acanthosis nigricans syndrome1 test
Cutaneous porphyria1 test
Cutis laxa with osteodystrophy1 test
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies1 test
Cutis laxa, X-linked2 tests
Cutis laxa, autosomal dominant 13 tests
Cutis laxa, autosomal dominant 22 tests
Cutis laxa, autosomal recessive, type 1A3 tests
Cutis laxa, autosomal recessive, type 1B1 test
Cyclical neutropenia1 test
Cystic fibrosis4 tests
DK1-congenital disorder of glycosylation2 tests
DNA ligase IV deficiency1 test
DOORS syndrome3 tests
DPM3-congenital disorder of glycosylation1 test
DYRK1A-related intellectual disability syndrome1 test
Danon disease5 tests
De Lange syndrome2 tests
Deafness dystonia syndrome1 test
Deafness with labyrinthine aplasia, microtia, and microdontia1 test
Deafness, X-linked 51 test
Deafness, autosomal dominant 39, with dentinogenesis imperfecta 11 test
Deafness-infertility syndrome1 test
Deafness-lymphedema-leukemia syndrome1 test
Decreased CSF 5-methyltetrahydrofolate concentration1 test
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase1 test
Deficiency of alpha-mannosidase3 tests
Deficiency of butyryl-CoA dehydrogenase1 test
Deficiency of hyaluronoglucosaminidase1 test
Dejerine-Sottas disease1 test
Delpire-McNeill syndrome1 test
Desbuquois dysplasia 12 tests
Desmin-related myofibrillar myopathy1 test
Developmental and epileptic encephalopathy 944 tests
Developmental and epileptic encephalopathy, 12 tests
Developmental and epileptic encephalopathy, 111 test
Developmental and epileptic encephalopathy, 121 test
Developmental and epileptic encephalopathy, 131 test
Developmental and epileptic encephalopathy, 142 tests
Developmental and epileptic encephalopathy, 152 tests
Developmental and epileptic encephalopathy, 162 tests
Developmental and epileptic encephalopathy, 172 tests
Developmental and epileptic encephalopathy, 182 tests
Developmental and epileptic encephalopathy, 192 tests
Developmental and epileptic encephalopathy, 21 test
Developmental and epileptic encephalopathy, 211 test
Developmental and epileptic encephalopathy, 232 tests
Developmental and epileptic encephalopathy, 242 tests
Developmental and epileptic encephalopathy, 251 test
Developmental and epileptic encephalopathy, 262 tests
Developmental and epileptic encephalopathy, 271 test
Developmental and epileptic encephalopathy, 282 tests
Developmental and epileptic encephalopathy, 291 test
Developmental and epileptic encephalopathy, 302 tests
Developmental and epileptic encephalopathy, 312 tests
Developmental and epileptic encephalopathy, 322 tests
Developmental and epileptic encephalopathy, 332 tests
Developmental and epileptic encephalopathy, 341 test
Developmental and epileptic encephalopathy, 351 test
Developmental and epileptic encephalopathy, 362 tests
Developmental and epileptic encephalopathy, 371 test
Developmental and epileptic encephalopathy, 381 test
Developmental and epileptic encephalopathy, 391 test
Developmental and epileptic encephalopathy, 42 tests
Developmental and epileptic encephalopathy, 401 test
Developmental and epileptic encephalopathy, 411 test
Developmental and epileptic encephalopathy, 421 test
Developmental and epileptic encephalopathy, 431 test
Developmental and epileptic encephalopathy, 442 tests
Developmental and epileptic encephalopathy, 452 tests
Developmental and epileptic encephalopathy, 461 test
Developmental and epileptic encephalopathy, 472 tests
Developmental and epileptic encephalopathy, 481 test
Developmental and epileptic encephalopathy, 491 test
Developmental and epileptic encephalopathy, 52 tests
Developmental and epileptic encephalopathy, 501 test
Developmental and epileptic encephalopathy, 511 test
Developmental and epileptic encephalopathy, 521 test
Developmental and epileptic encephalopathy, 532 tests
Developmental and epileptic encephalopathy, 541 test
Developmental and epileptic encephalopathy, 551 test
Developmental and epileptic encephalopathy, 561 test
Developmental and epileptic encephalopathy, 572 tests
Developmental and epileptic encephalopathy, 581 test
Developmental and epileptic encephalopathy, 592 tests
Developmental and epileptic encephalopathy, 62 tests
Developmental and epileptic encephalopathy, 601 test
Developmental and epileptic encephalopathy, 611 test
Developmental and epileptic encephalopathy, 622 tests
Developmental and epileptic encephalopathy, 631 test
Developmental and epileptic encephalopathy, 642 tests
Developmental and epileptic encephalopathy, 651 test
Developmental and epileptic encephalopathy, 662 tests
Developmental and epileptic encephalopathy, 672 tests
Developmental and epileptic encephalopathy, 681 test
Developmental and epileptic encephalopathy, 691 test
Developmental and epileptic encephalopathy, 72 tests
Developmental and epileptic encephalopathy, 701 test
Developmental and epileptic encephalopathy, 711 test
Developmental and epileptic encephalopathy, 741 test
Developmental and epileptic encephalopathy, 82 tests
Developmental and epileptic encephalopathy, 811 test
Developmental and epileptic encephalopathy, 91 test
Diamond-Blackfan anemia 11 test
Diamond-Blackfan anemia 101 test
Diamond-Blackfan anemia 31 test
Diamond-Blackfan anemia 41 test
Diamond-Blackfan anemia 51 test
Diamond-Blackfan anemia 61 test
Diamond-Blackfan anemia 71 test
Diamond-Blackfan anemia 91 test
Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome1 test
Dilated cardiomyopathy 1A2 tests
Dilated cardiomyopathy 1AA3 tests
Dilated cardiomyopathy 1BB3 tests
Dilated cardiomyopathy 1C2 tests
Dilated cardiomyopathy 1CC3 tests
Dilated cardiomyopathy 1D3 tests
Dilated cardiomyopathy 1DD2 tests
Dilated cardiomyopathy 1E4 tests
Dilated cardiomyopathy 1EE2 tests
Dilated cardiomyopathy 1FF3 tests
Dilated cardiomyopathy 1G3 tests
Dilated cardiomyopathy 1HH2 tests
Dilated cardiomyopathy 1I2 tests
Dilated cardiomyopathy 1II2 tests
Dilated cardiomyopathy 1JJ2 tests
Dilated cardiomyopathy 1KK2 tests
Dilated cardiomyopathy 1L2 tests
Dilated cardiomyopathy 1NN3 tests
Dilated cardiomyopathy 1O2 tests
Dilated cardiomyopathy 1P3 tests
Dilated cardiomyopathy 1R2 tests
Dilated cardiomyopathy 1S3 tests
Dilated cardiomyopathy 1W2 tests
Dilated cardiomyopathy 1X1 test
Dilated cardiomyopathy 1Y3 tests
Dilated cardiomyopathy 1Z3 tests
Dilated cardiomyopathy 2A3 tests
Dilated cardiomyopathy 2B2 tests
Dilated cardiomyopathy 3B2 tests
Disorder of organic acid metabolism1 test
Distal arthrogryposis type 5D1 test
Distal myopathy with anterior tibial onset1 test
Distal myopathy with posterior leg and anterior hand involvement1 test
Distal myopathy, Tateyama type3 tests
Distichiasis-lymphedema syndrome2 tests
Doyne honeycomb retinal dystrophy1 test
Dubin-Johnson syndrome1 test
Duchenne muscular dystrophy3 tests
Dyggve-Melchior-Clausen syndrome1 test
Dyskeratosis congenita, X-linked3 tests
Dyskeratosis congenita, autosomal dominant 13 tests
Dyskeratosis congenita, autosomal dominant 23 tests
Dyskeratosis congenita, autosomal dominant 33 tests
Dyskeratosis congenita, autosomal dominant 63 tests
Dyskeratosis congenita, autosomal recessive 13 tests
Dyskeratosis congenita, autosomal recessive 2