Baylor Genetics

General information

Baylor Genetics

2450 Holcombe, Grand Blvd. - Sample Receiving Dock
Houston
Texas
United States - 77021-2024
https://www.baylorgenetics.com/
Organization ID: 1006

Personnel

View this laboratory in GTR

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 2648

Gene

GeneSubmissionsLast Updated
ABCA11Nov 14, 2016
ABCA42Mar 14, 2019
ABCB111Apr 1, 2019
ABCC62Aug 17, 2015
ABCC92Mar 14, 2019
ABL13May 26, 2020
ACADM2Nov 14, 2016
ACADVL8Sep 27, 2019
ACO22Dec 16, 2015
ACTA15Oct 16, 2017
ACTA21Oct 16, 2017
ACTB1Mar 14, 2019
ACTG11Nov 14, 2016
ACTG21Mar 14, 2019
ACTL6A2Jun 14, 2018
ACVR11Mar 14, 2019
ACVRL11Oct 16, 2017
ADA1Apr 1, 2019
ADAR1Nov 14, 2016
ADCY51Oct 16, 2017
ADNP1Oct 16, 2017
ADSL2Oct 16, 2017
AFF21Apr 1, 2019
AGK3Oct 16, 2017
AGL4Sep 27, 2019
AGPAT22Nov 14, 2016
AGXT5Sep 27, 2019
AHDC11Mar 14, 2019
ALDH3A21Sep 27, 2019
ALDOB5Sep 27, 2019
ALG122Oct 16, 2017
ALG62Nov 14, 2016
ALPK32Mar 14, 2019
ANKRD1113Mar 14, 2019
ANTXR22Aug 17, 2015
AOPEP4Sep 27, 2019
AP4M12Oct 16, 2017
APBB12Sep 27, 2019
APOB1Nov 14, 2016
ARHGEF101Nov 14, 2016
ARID1A3Mar 14, 2019
ARID1B16Apr 1, 2019
ARSA6Sep 27, 2019
ASAH12Oct 16, 2017
ASL4Sep 27, 2019
ASPA13Sep 27, 2019
ASS138Sep 27, 2019
ASXL11Oct 16, 2017
ASXL33Mar 14, 2019
ATL13Mar 14, 2019
ATM14Sep 27, 2019
ATP13A22Aug 17, 2015
ATP1A21Oct 16, 2017
ATP1A33Mar 14, 2019
ATP2B31Oct 16, 2017
ATP7A1Apr 1, 2019
ATP7B13Sep 27, 2019
ATRIP4Mar 14, 2019
ATRIP-TREX14Mar 14, 2019
ATRX5Mar 14, 2019
AVPR21Nov 14, 2016
B3GALNT22Oct 16, 2017
B3GAT31Oct 16, 2017
BAG31Oct 16, 2017
BBS12Oct 16, 2017
BBS104Sep 27, 2019
BCAP311Nov 14, 2016
BCS1L4Sep 27, 2019
BICD21Oct 16, 2017
BLM2Nov 14, 2016
BPTF8Jul 10, 2017
BRAF6Aug 17, 2015
BRCA162Feb 23, 2017
BRCA284Feb 23, 2017
BRCC31Apr 1, 2019
BRF12Mar 14, 2019
BRWD11Oct 16, 2017
BRWD31Nov 14, 2016
C11orf6510Sep 27, 2019
C12orf571Oct 16, 2017
C17orf1073Sep 27, 2019
C1QTNF51Aug 17, 2015
CA21Nov 14, 2016
CACNA1A5Jun 1, 2020
CACNA1S1Aug 17, 2015
CACNB41Nov 14, 2016
CAPN35Sep 27, 2019
CASK2Mar 14, 2019
CASR1Oct 16, 2017
CBL2Mar 14, 2019
CBS5Sep 27, 2019
CCDC1031Oct 16, 2017
CDH232Sep 27, 2019
CDK131Mar 14, 2019
CDKL53Oct 16, 2017
CFAP521Apr 1, 2019
CFTR185Sep 27, 2019
CFTR-AS120Sep 27, 2019
CHAT2Sep 27, 2019
CHD23Oct 16, 2017
CHD74Mar 14, 2019
CHD83Oct 16, 2017
CHKB1Oct 16, 2017
CHKB-CPT1B1Oct 16, 2017
CHRNA71Oct 16, 2017
CHRNE5Sep 27, 2019
CHRNG1Oct 16, 2017
CHROMR2Mar 14, 2019
CLCN15Mar 14, 2019
CLCN51Oct 16, 2017
CLN51Sep 27, 2019
CLN81Sep 27, 2019
CLRN12Sep 27, 2019
CLRN1-AS11Sep 27, 2019
CNGA31Mar 14, 2019
CNTNAP11Oct 16, 2017
COL11A12Oct 16, 2017
COL12A11Mar 14, 2019
COL1A19Nov 23, 2018
COL1A26Mar 14, 2019
COL2A11Oct 16, 2017
COL3A11Mar 14, 2019
COL4A13Oct 16, 2017
COL4A21Oct 16, 2017
COL4A41Apr 1, 2019
COL4A52Apr 1, 2019
COL5A12Nov 14, 2016
COL6A31Oct 16, 2017
COL7A13Mar 14, 2019
COL9A11Nov 14, 2016
COL9A31Nov 14, 2016
COQ21Mar 14, 2019
CPLANE12Mar 14, 2019
CPOX1Nov 14, 2016
CPT1A2Sep 27, 2019
CPT26Sep 27, 2019
CRBN1Aug 17, 2015
CREBBP2Mar 14, 2019
CRIPT2Dec 23, 2015
CRPPA2Oct 16, 2017
CRYGD1Mar 14, 2019
CSF1R1Aug 17, 2015
CTNNB13Oct 16, 2017
CTNS2Sep 27, 2019
CYP1B16Sep 27, 2019
CYP27A13Sep 27, 2019
CYP7B11Oct 16, 2017
DCAF171Aug 17, 2015
DCX1Oct 16, 2017
DDX3X2Mar 14, 2019
DEAF16Oct 16, 2017
DES1Aug 17, 2015
DGAT11Oct 16, 2017
DHCR241Oct 16, 2017
DHCR743Sep 27, 2019
DHX301Mar 14, 2019
DIAPH11Apr 1, 2019
DKC11Oct 16, 2017
DMD14Sep 27, 2019
DNAH52Oct 16, 2017
DNAJB21Aug 17, 2015
DNM11Nov 14, 2016
DNM1L5Mar 14, 2019
DNM23Oct 16, 2017
DOK78Sep 27, 2019
DPAGT11Oct 16, 2017
DPYD7Sep 27, 2019
DVL31Mar 14, 2019
DYNC1H13Oct 16, 2017
DYNC2H12Oct 16, 2017
DYRK1A6Oct 16, 2017
EBF32Nov 12, 2016
ECEL11Nov 14, 2016
ECHS12Mar 14, 2019
EEF1A21Oct 16, 2017
EFHC11Oct 16, 2017
EFTUD22Oct 16, 2017
EHMT13Oct 16, 2017
EIF2AK22Feb 21, 2020
EIF2B31Oct 16, 2017
EIF2B53Sep 27, 2019
ELAC22Oct 16, 2017
ELOVL42Oct 16, 2017
ENG1Oct 16, 2017
ENPP12Oct 16, 2017
EP3003Mar 14, 2019
EPB41L11Oct 16, 2017
EPHX11Oct 16, 2017
ERCC63Oct 16, 2017
ETHE11Nov 14, 2016
EVC22Oct 16, 2017
EXOSC31Oct 16, 2017
F71Nov 14, 2016
FAH19Sep 27, 2019
FANCC20Sep 27, 2019
FANCG1Nov 14, 2016
FASTKD21Oct 16, 2017
FBLN51Mar 14, 2019
FBN14Mar 14, 2019
FBN21Oct 16, 2017
FBXL43Oct 16, 2017
FDXR2Mar 14, 2019
FGD11Nov 14, 2016
FGFR12Mar 14, 2019
FGFR23Nov 23, 2018
FGFR38Mar 14, 2019
FH2Sep 27, 2019
FHL11Mar 14, 2019
FKTN3Sep 27, 2019
FLG3Nov 14, 2016
FLNA2Oct 16, 2017
FOXG11Oct 16, 2017
FOXP14Mar 14, 2019
FTCD2Aug 17, 2015
G6PC118Sep 27, 2019
G6PC31Oct 16, 2017
GAA2Oct 16, 2017
GABRB31Aug 17, 2015
GABRG21Mar 14, 2019
GALC6Sep 27, 2019
GALNT31Oct 16, 2017
GALT27Sep 27, 2019
GAN3Mar 14, 2019
GAREM21Sep 27, 2019
GARS11Aug 17, 2015
GATAD19Sep 27, 2019
GATAD2B1Nov 14, 2016
GBA31Sep 27, 2019
GCDH4Sep 27, 2019
GDF61Nov 14, 2016
GFAP1Nov 14, 2016
GFER2Oct 16, 2017
GH-LCR2Oct 16, 2017
GJB216Sep 27, 2019
GJC21Oct 16, 2017
GLB14Mar 14, 2019
GLDC4Sep 27, 2019
GLI23Nov 14, 2016
GLI31Nov 14, 2016
GMNN3Jun 23, 2015
GNAO12Mar 14, 2019
GNAS1Aug 17, 2015
GNE5Sep 27, 2019
GNPTAB4Sep 27, 2019
GRHPR1Sep 27, 2019
GRIA33Oct 16, 2017
GRIN13Oct 16, 2017
GRIN2A1Oct 16, 2017
GRIN2B8Oct 16, 2017
HADHA1Sep 27, 2019
HAX12Oct 16, 2017
HBB42Sep 27, 2019
HDAC88Mar 14, 2019
HEXA4Oct 16, 2017
HEXB4Sep 27, 2019
HGSNAT1Oct 16, 2017
HIBCH2Mar 14, 2019
HMBS1Mar 14, 2019
HNF4A1Mar 14, 2019
HNRNPU6Oct 16, 2017
HOXD131Mar 14, 2019
HRAS6Oct 16, 2017
HSD17B43Sep 27, 2019
HSPG22Aug 17, 2015
HUWE12Oct 16, 2017
IDH21Oct 16, 2017
IDUA1Nov 14, 2016
IGHMBP21Oct 16, 2017
IQSEC21Mar 14, 2019
IRF61Oct 16, 2017
IRX52Nov 14, 2016
ISCA21Nov 14, 2016
ITGA32Aug 17, 2015
ITPR12Mar 14, 2019
IVD15Sep 27, 2019
JAG11Nov 23, 2018
KANSL15Mar 14, 2019
KAT6A1Nov 14, 2016
KAT6B2Mar 14, 2019
KCNJ21Mar 14, 2019
KCNK91Oct 16, 2017
KCNMA11Oct 16, 2017
KCNQ24Oct 16, 2017
KCNT17Mar 14, 2019
KCTD71Oct 16, 2017
KDM5C1Nov 14, 2016
KDM6A1Oct 16, 2017
KIF1A8Aug 20, 2020
KIF1C2Aug 17, 2015
KIF5C1Aug 17, 2015
KMT2A5Mar 14, 2019
KMT2C2Oct 16, 2017
KMT2D5Mar 14, 2019
KPNA72Aug 17, 2015
KRAS6Mar 14, 2019
KRIT11Nov 14, 2016
KRT141Oct 16, 2017
KRT811Oct 16, 2017
KRT861Oct 16, 2017
L1CAM1Mar 14, 2019
LAMB12Oct 16, 2017
LAMB33Sep 27, 2019
LAMC32Oct 16, 2017
LAMP21Oct 16, 2017
LARS12Oct 16, 2017
LARS22Mar 14, 2019
LAS1L1Nov 14, 2016
LIFR2Oct 16, 2017
LIPT12Oct 16, 2017
LMNA2Oct 16, 2017
LMX1B1Apr 1, 2019
LOC1005074431Mar 14, 2019
LOC1027235661Oct 16, 2017
LOC1027240584Mar 14, 2019
LOC10609906231Sep 27, 2019
LOC10662798129Sep 27, 2019
LOC10713351042Sep 27, 2019
LOC11000631912Sep 27, 2019
LOC11167447226Sep 27, 2019
LOC1116744759Sep 27, 2019
LOC1116744774Sep 27, 2019
LOC1117217051Oct 16, 2017
LOC1136641064Sep 27, 2019
LOC1153081611Nov 14, 2016
LOXHD12Nov 14, 2016
LPAR61Nov 14, 2016
LRP22Mar 14, 2019
LRPPRC5Sep 27, 2019
LRRC566Oct 16, 2017
MAF1Nov 14, 2016
MAGEL23Oct 16, 2017
MAN2B15Sep 27, 2019
MAP2K12Oct 16, 2017
MAP2K24Sep 24, 2014
MBD51Oct 16, 2017
MCCC21Nov 14, 2016
MCM71Oct 16, 2017
MCOLN19Sep 27, 2019
MECP25Mar 14, 2019
MED121Oct 16, 2017
MED13L3Apr 1, 2019
MEF2C1Aug 17, 2015
MEGF101Nov 14, 2016
MEGF83Oct 16, 2017
MFN21Aug 17, 2015
MFRP1Aug 17, 2015
MIPEP6Jun 19, 2015
MITD12Oct 16, 2017
MLC11Sep 27, 2019
MMACHC30Sep 27, 2019
MMP21Nov 14, 2016
MPL3Sep 27, 2019
MPZ1Nov 14, 2016
MRE111Oct 16, 2017
MSL21Apr 8, 2018
MT-ATP61Aug 17, 2015
MT-ND61Aug 17, 2015
MTFMT2Oct 16, 2017
MTM11Mar 14, 2019
MTPAP1Nov 14, 2016
MTRFR1Oct 16, 2017
MVK2Aug 17, 2015
MYH21Nov 14, 2016
MYH61Oct 16, 2017
MYH72Mar 14, 2019
MYHAS1Nov 14, 2016
MYO1F1Nov 14, 2016
MYO5A1Oct 16, 2017
MYO7A8Sep 27, 2019
NAA102Mar 14, 2019
NACC11Mar 14, 2019
NBN3Sep 27, 2019
NDE12Apr 1, 2019
NDUFAF21Oct 16, 2017
NDUFAF51Oct 16, 2017
NDUFS12Oct 16, 2017
NDUFV11Mar 14, 2019
NEXMIF3Oct 16, 2017
NF12Oct 16, 2017
NF21Mar 14, 2019
NFIX1Aug 17, 2015
NGLY11Aug 17, 2015
NIPAL41Oct 16, 2017
NIPBL7Nov 23, 2018
NKX2-12Mar 14, 2019
NLGN4X2Oct 16, 2017
NLRC41Nov 14, 2016
NOTCH11Nov 14, 2016
NPC113Sep 27, 2019
NPC21Oct 16, 2017
NPHS16Sep 27, 2019
NR1H43Dec 22, 2015
NR2F11Mar 14, 2019
NRXN11Oct 16, 2017
NSD16Oct 16, 2017
NTRK12Aug 17, 2015
NUBPL2Oct 16, 2017
OBSL12Nov 14, 2016
OCRL1Oct 16, 2017
OFD12Mar 14, 2019
OGT1Mar 14, 2019
OTOF1Nov 14, 2016
OTUD6B4Jan 10, 2017
OTX21Oct 16, 2017
P4HTM2Mar 14, 2019
PACS11Oct 16, 2017
PAFAH1B13Oct 16, 2017
PAH22Sep 27, 2019
PAPSS21Oct 16, 2017
PCCA2Sep 27, 2019
PCCB6Sep 27, 2019
PCDH152Sep 27, 2019
PCDH192Oct 16, 2017
PCNT1Oct 16, 2017
PDCD101Nov 29, 2018
PDHA16Oct 16, 2017
PDHX1Oct 16, 2017
PDS5A2Apr 8, 2018
PEX128Sep 27, 2019
PEX121Oct 16, 2017
PEX162Oct 16, 2017
PEX61Mar 14, 2019
PEX716Sep 27, 2019
PGAP12Mar 14, 2019
PHEX1Mar 14, 2019
PHF81Nov 14, 2016
PHGDH1Mar 14, 2019
PHKA11Apr 1, 2019
PHOX2B1Oct 16, 2017
PIGA1Oct 16, 2017
PIGB1Oct 16, 2017
PIK3CA1Oct 16, 2017
PIK3R11Aug 17, 2015
PKD1L12May 29, 2016
PKHD181Sep 27, 2019
PKP21Oct 16, 2017
PLA2G613Sep 27, 2019
PLOD14Oct 16, 2017
PLP14Oct 16, 2017
PMM27Sep 27, 2019
PNPO1Mar 14, 2019
PNPT13Oct 16, 2017
POLG9Sep 27, 2019
POLR1C2Mar 14, 2019
POLR2F1Nov 14, 2016
POLR3H2Dec 16, 2015
POMGNT13Sep 27, 2019
POMT11Oct 16, 2017
PPP2R3A1Apr 8, 2018
PPT12Sep 27, 2019
PQBP13Oct 16, 2017
PRF11Oct 16, 2017
PRICKLE22Oct 16, 2017
PRICKLE2-AS11Oct 16, 2017
PRKRA2Mar 14, 2019
PROP11Sep 27, 2019
PRR123Nov 15, 2017
PRRT21Nov 14, 2016
PRX1Oct 16, 2017
PTCH12Oct 16, 2017
PTEN5Apr 1, 2019
PTPN1125Mar 14, 2019
PTS4Sep 27, 2019
PUF601Nov 14, 2016
RAB27A1Mar 14, 2019
RAB3GAP12Oct 16, 2017
RAB3GAP21Mar 14, 2019
RAB9B4Oct 16, 2017
RAD212Apr 8, 2018
RAD51C2Aug 31, 2017
RAF16Nov 23, 2018
RAPSN4Sep 27, 2019
RARB1Mar 14, 2019
RARS12Mar 14, 2019
RARS24Mar 14, 2019
RB11Nov 14, 2016
RBM102Apr 1, 2019
RECQL41Oct 16, 2017
RIPK41Oct 16, 2017
RIT12Nov 23, 2018
RMND11Oct 16, 2017
ROBO31Oct 16, 2017
RPGR1Apr 1, 2019
RRM2B1Oct 16, 2017
RTEL11Sep 27, 2019
RTEL1-TNFRSF6B1Sep 27, 2019
RTTN2Oct 16, 2017
RYR16Oct 16, 2017
RYR21Apr 1, 2019
SACS4Sep 27, 2019
SATB22Apr 1, 2019
SCN1A6Mar 14, 2019
SCN1A-AS12Oct 16, 2017
SCN2A4Mar 14, 2019
SCN4A4Oct 16, 2017
SCN8A6Mar 14, 2019
SCN9A2Oct 16, 2017
SEMA3A1Apr 1, 2019
SERAC12Mar 14, 2019
SERPINA12Nov 14, 2016
SETBP11Mar 14, 2019
SETX4Oct 16, 2017
SFTA32Mar 14, 2019
SFXN41Mar 14, 2019
SGCB1Sep 27, 2019
SGSH3Sep 27, 2019
SHANK33Apr 1, 2019
SHH1Nov 14, 2016
SHOC22Oct 16, 2017
SHOX2Nov 14, 2016
SIGMAR11Aug 17, 2015
SIX11Oct 16, 2017
SKI1Oct 16, 2017
SKIV2L1Oct 16, 2017
SLC12A32Aug 17, 2015
SLC12A51Mar 14, 2019
SLC12A62Sep 27, 2019
SLC13A52Mar 14, 2019
SLC17A53Sep 27, 2019
SLC19A32Mar 14, 2019
SLC22A511Sep 27, 2019
SLC25A138Sep 27, 2019
SLC25A152Sep 27, 2019
SLC25A381Oct 16, 2017
SLC26A11Nov 14, 2016
SLC26A23Sep 27, 2019
SLC26A411Sep 27, 2019
SLC2A13Mar 14, 2019
SLC2A91Nov 14, 2016
SLC35A21Nov 14, 2016
SLC35A31Sep 27, 2019
SLC45A21Nov 14, 2016
SLC6A12Mar 14, 2019
SLC6A1-AS11Nov 14, 2016
SLC6A82May 10, 2019
SLC7A72Sep 27, 2019
SLC9A3R11Oct 16, 2017
SLX42Oct 16, 2017
SMARCA22Oct 16, 2017
SMARCA42Mar 14, 2019
SMARCB13Mar 14, 2019
SMC1A15Apr 8, 2018
SMC34Apr 8, 2018
SMPD139Sep 27, 2019
SNHG14120Oct 16, 2017
SON5Aug 1, 2016
SOS15Sep 24, 2014
SOX101Nov 14, 2016
SOX111Nov 14, 2016
SOX51Mar 14, 2019
SOX91Nov 14, 2016
SPAST2Mar 14, 2019
SPATA2213Sep 27, 2019
SPG113Oct 16, 2017
SPRED11Nov 14, 2016
SPTBN12Dec 14, 2020
SPTLC11Aug 17, 2015
SRCAP1Mar 14, 2019
SRD5A21Apr 1, 2019
SRD5A31Oct 16, 2017
SSR41Oct 16, 2017
STAG14Apr 8, 2018
STAG26Apr 8, 2018
STAMBP1Oct 16, 2017
STIM11Mar 14, 2019
STS1Nov 14, 2016
STX161Apr 1, 2019
STXBP14Oct 16, 2017
SUCLG12Oct 16, 2017
SUMF11Oct 16, 2017
SYNGAP17Oct 16, 2017
TAB23Oct 16, 2017
TALDO11Oct 16, 2017
TANGO24Sep 3, 2015
TBC1D241Mar 14, 2019
TBX191Oct 16, 2017
TCF122Nov 14, 2016
TCF44Oct 16, 2017
TCIRG12Oct 16, 2017
TECPR21Nov 14, 2016
TEK1Oct 16, 2017
TGFB21Nov 14, 2016
TGFBR11Oct 16, 2017
TGFBR21Oct 16, 2017
TGM11Sep 27, 2019
TH2Sep 27, 2019
THOC64Mar 14, 2019
THRA1Oct 16, 2017
TJP21Nov 14, 2016
TK22Oct 16, 2017
TLK21Mar 14, 2019
TM4SF201Apr 1, 2019
TMEM674Oct 16, 2017
TMLHE1Oct 16, 2017
TNRC6B2Jul 26, 2019
TNXB2Aug 17, 2015
TPM12Mar 14, 2019
TPM31Oct 16, 2017
TPO1Nov 14, 2016
TPP16Sep 27, 2019
TRAPPC111Oct 16, 2017
TRDN1Oct 16, 2017
TREX14Mar 14, 2019
TRMU2Oct 16, 2017
TRNT11Aug 17, 2015
TRPS11Nov 4, 2016
TRRAP1Mar 14, 2019
TSC11Oct 16, 2017
TSC23Nov 23, 2018
TSEN542Oct 16, 2017
TSPAN13Sep 27, 2019
TTC371Oct 16, 2017
TTC7A1Oct 16, 2017
TTN9Apr 1, 2019
TTN-AS13Oct 16, 2017
TTPA1Sep 27, 2019
TUBA1A3Mar 14, 2019
TUBB31Nov 14, 2016
TUBB4A3Mar 14, 2019
TYR3Oct 16, 2017
UBE2A1Apr 1, 2019
UBE3A120Oct 16, 2017
UBN21Mar 14, 2019
UGT1A1Sep 27, 2019
UGT1A11Sep 27, 2019
UGT1A101Sep 27, 2019
UGT1A31Sep 27, 2019
UGT1A41Sep 27, 2019
UGT1A51Sep 27, 2019
UGT1A61Sep 27, 2019
UGT1A71Sep 27, 2019
UGT1A81Sep 27, 2019
UGT1A91Sep 27, 2019
USH1C4Sep 27, 2019
USH2A15Sep 27, 2019
VPS111Dec 21, 2015
VPS13B3Oct 16, 2017
VRK12Aug 17, 2015
WAPL1Apr 8, 2018
WDPCP1Oct 16, 2017
WDR193Apr 1, 2019
WDR352Oct 16, 2017
WDR455Mar 14, 2019
WFS14Nov 14, 2016
WNT5A1Oct 16, 2017
WWOX7Apr 1, 2019
XPA1Oct 16, 2017
XPC1Oct 16, 2017
YARS25Mar 14, 2019
ZBTB181Mar 14, 2019
ZDHHC242Oct 16, 2017
ZEB25Mar 14, 2019
ZFYVE261Aug 17, 2015
ZNF3353Mar 14, 2019
ZNF4231Mar 14, 2019

Condition

NameSubmissionsLast Updated
11q partial monosomy syndrome2Apr 1, 2019
16p11.2 deletion syndrome5Apr 1, 2019
1q21.1 recurrent microdeletion3Apr 1, 2019
22q13.3 deletion syndrome5Apr 1, 2019
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency1Apr 1, 2019
3-methylcrotonyl CoA carboxylase 2 deficiency1Nov 14, 2016
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome2Mar 14, 2019
4p partial monosomy syndrome3Apr 1, 2019
5p partial monosomy syndrome2Apr 1, 2019
ALG12-congenital disorder of glycosylation2Oct 16, 2017
Aarskog syndrome1Nov 14, 2016
Abnormality of skeletal morphology2Jan 10, 2017
Abnormality of vision3Nov 15, 2017
Achondroplasia2Mar 14, 2019
Achromatopsia 21Mar 14, 2019
Acrocephalosyndactyly type I1Nov 23, 2018
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins2Oct 16, 2017
Acute intermittent porphyria1Mar 14, 2019
Acute myeloid leukemia2Mar 14, 2019
Acute neuronopathic Gaucher's disease31Sep 27, 2019
Acute rhabdomyolysis4Sep 3, 2015
Adenylosuccinate lyase deficiency2Oct 16, 2017
Adrenocorticotropic hormone deficiency1Oct 16, 2017
Adrenoleukodystrophy1Apr 1, 2019
Age-related macular degeneration 31Mar 14, 2019
Agenesis of the corpus callosum with peripheral neuropathy2Sep 27, 2019
Aicardi Goutieres syndrome 14Mar 14, 2019
Aicardi-Goutieres syndrome 61Nov 14, 2016
Alagille syndrome 12Apr 1, 2019
Alexander Disease1Nov 14, 2016
Alpha thalassemia-X-linked intellectual disability syndrome4Mar 14, 2019
Alpha-1-antitrypsin deficiency2Nov 14, 2016
Alport syndrome 1, X-linked recessive2Apr 1, 2019
Alternating hemiplegia of childhood 23Mar 14, 2019
Amyotrophic lateral sclerosis 16, juvenile1Aug 17, 2015
Amyotrophic lateral sclerosis type 52Oct 16, 2017
Andersen Tawil syndrome1Mar 14, 2019
Anemia, sideroblastic, 2, pyridoxine-refractory1Oct 16, 2017
Angelman syndrome126Apr 1, 2019
Aortic valve disorder1Nov 14, 2016
Argininosuccinate lyase deficiency4Sep 27, 2019
Arrhythmogenic right ventricular dysplasia 91Oct 16, 2017
Arrhythmogenic right ventricular dysplasia, familial, 21Apr 1, 2019
Arterial calcification, generalized, of infancy, 12Oct 16, 2017
Arthrogryposis, mental retardation, and seizures1Sep 27, 2019
Ataxia2Nov 12, 2016
Ataxia, spastic, 2, autosomal recessive2Aug 17, 2015
Ataxia, spastic, 4, autosomal recessive1Nov 14, 2016
Ataxia-telangiectasia syndrome14Sep 27, 2019
Ataxia-telangiectasia-like disorder 11Oct 16, 2017
Atelosteogenesis type II3Sep 27, 2019
Atrial fibrillation, familial, 111Apr 1, 2019
Atrial fibrillation, familial, 121Mar 14, 2019
Atrial fibrillation, familial, 91Mar 14, 2019
Auditory neuropathy-optic atrophy syndrome2Mar 14, 2019
Autism spectrum disorder1Mar 14, 2019
Autism, susceptibility to, 183Oct 16, 2017
Autism, susceptibility to, X-linked 22Oct 16, 2017
Autism, susceptibility to, X-linked 61Oct 16, 2017
Autistic behavior3Dec 14, 2020
Autistic disorder of childhood onset5Nov 15, 2017
Autoinflammation with infantile enterocolitis1Nov 14, 2016
Autosomal dominant torsion dystonia 41Mar 14, 2019
Autosomal recessive DOPA responsive dystonia2Sep 27, 2019
Autosomal recessive congenital ichthyosis 11Sep 27, 2019
Autosomal recessive congenital ichthyosis 61Oct 16, 2017
Autosomal recessive cutis laxa type IA1Mar 14, 2019
Autosomal recessive limb-girdle muscular dystrophy type 2E1Sep 27, 2019
Autosomal recessive multiple pterygium syndrome1Oct 16, 2017
Autosomal recessive osteopetrosis 12Oct 16, 2017
Autosomal recessive polycystic kidney disease81Sep 27, 2019
BH4-deficient hyperphenylalaninemia A4Sep 27, 2019
Bainbridge-Ropers syndrome3Mar 14, 2019
Baraitser-Winter Syndrome 21Nov 14, 2016
Baraitser-Winter syndrome 11Mar 14, 2019
Bardet-Biedl syndrome 14Sep 27, 2019
Bardet-Biedl syndrome 102Oct 16, 2017
Bartsocas-Papas syndrome1Oct 16, 2017
Beaded hair1Oct 16, 2017
Beaulieu-Boycott-Innes syndrome4Mar 14, 2019
Becker muscular dystrophy3Apr 1, 2019
Behavioral abnormality2Jul 26, 2019
Benign familial neonatal seizures 11Oct 16, 2017
Benign hereditary chorea1Mar 14, 2019
Beta-hydroxyisobutyryl-CoA deacylase deficiency2Mar 14, 2019
Bethlem myopathy 21Mar 14, 2019
Bifunctional peroxisomal enzyme deficiency3Sep 27, 2019
Bilateral sensorineural hearing impairment1Nov 14, 2016
Biotin-responsive basal ganglia disease2Mar 14, 2019
Birk-Barel syndrome1Oct 16, 2017
Blepharophimosis - intellectual disability syndrome, SBBYS type1Mar 14, 2019
Bloom syndrome2Nov 14, 2016
Bohring-Opitz syndrome1Oct 16, 2017
Bone mineral density quantitative trait locus 182Apr 1, 2019
Bosch-Boonstra-Schaaf optic atrophy syndrome1Mar 14, 2019
Brachydactyly type D1Mar 14, 2019
Brachydactyly type E11Mar 14, 2019
Brain small vessel disease 1 with or without ocular anomalies2Oct 16, 2017
Brain small vessel disease with hemorrhage2Nov 14, 2016
CHARGE association4Mar 14, 2019
Camptodactyly-tall stature-scoliosis-hearing loss syndrome1Mar 14, 2019
Camptomelic dysplasia1Nov 14, 2016
Cardiac arrhythmia4Sep 3, 2015
Cardiac valvular dysplasia, X-linked1Aug 17, 2015
Cardiofaciocutaneous syndrome 22Mar 14, 2019
Cardiofaciocutaneous syndrome 32Oct 16, 2017
Cardiomyopathy7Jun 19, 2015
Cardiomyopathy, familial hypertrophic 272Mar 14, 2019
Carnitine palmitoyltransferase 1A deficiency2Sep 27, 2019
Carnitine palmitoyltransferase II deficiency, infantile6Sep 27, 2019
Carnitine palmitoyltransferase II deficiency, lethal neonatal5Sep 27, 2019
Carpenter syndrome 23Oct 16, 2017
Cat eye syndrome1Apr 1, 2019
Cataract 41Mar 14, 2019
Cataract-intellectual disability-hypogonadism syndrome1Mar 14, 2019
Central core myopathy2Oct 16, 2017
Cerebellar ataxia1Aug 17, 2015
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome2Mar 14, 2019
Cerebellofaciodental syndrome2Mar 14, 2019
Cerebral cavernous malformation1Nov 14, 2016
Cerebral cavernous malformations 31Nov 29, 2018
Cerebral-cerebellar-coloboma syndrome, X-linked3Oct 16, 2017
Ceroid lipofuscinosis neuronal 26Sep 27, 2019
Charcot-Marie-Tooth disease type 2D1Aug 17, 2015
Charcot-Marie-Tooth disease, axonal type 2X1Nov 14, 2016
Charcot-Marie-Tooth disease, axonal, type 2T1Aug 17, 2015
Charcot-Marie-Tooth disease, demyelinating, type 4F1Oct 16, 2017
Charcot-Marie-Tooth disease, type 2A2A1Aug 17, 2015
Charcot-Marie-Tooth disease, type IA3Apr 1, 2019
Charlevoix-Saguenay spastic ataxia4Sep 27, 2019
Chilblain lupus 12Mar 14, 2019
Cholestanol storage disease3Sep 27, 2019
Cholestasis, progressive familial intrahepatic 13Dec 22, 2015
Choreoathetosis, hypothyroidism, and neonatal respiratory distress2Mar 14, 2019
Chromosome 10q26 deletion syndrome1Apr 1, 2019
Chromosome 15q11-q13 duplication syndrome8Apr 1, 2019
Chromosome 16p11.2 deletion syndrome, 220 kb2Apr 1, 2019
Chromosome 16p11.2 duplication syndrome5Apr 1, 2019
Chromosome 16p12.1 deletion syndrome, 520kb6Apr 1, 2019
Chromosome 16p13.3 duplication syndrome1Apr 1, 2019
Chromosome 17p13.3, telomeric, duplication syndrome2Apr 1, 2019
Chromosome 17q12 deletion syndrome2Apr 1, 2019
Chromosome 17q12 duplication syndrome4Apr 1, 2019
Chromosome 1p36 deletion syndrome3Apr 1, 2019
Chromosome 1q21.1 duplication syndrome4Apr 1, 2019
Chromosome 22q11.2 deletion syndrome, distal1Apr 1, 2019
Chromosome 22q11.2 microduplication syndrome12Apr 1, 2019
Chromosome 2q32-q33 deletion syndrome2Apr 1, 2019
Chromosome 2q37 deletion syndrome3Apr 1, 2019
Chromosome Xq28 deletion syndrome2Apr 1, 2019
Ciliary dyskinesia, primary, 171Oct 16, 2017
Ciliary dyskinesia, primary, 32Oct 16, 2017
Citrullinemia type I38Sep 27, 2019
Classic homocystinuria5Sep 27, 2019
Cobalamin C disease30Sep 27, 2019
Cockayne syndrome B3Oct 16, 2017
Coenzyme Q10 deficiency, primary 11Mar 14, 2019
Coffin-Siris syndrome 117Apr 1, 2019
Cognitive impairment with or without cerebellar ataxia2Mar 14, 2019
Cohen syndrome3Oct 16, 2017
Combined immunodeficiency due to STIM1 deficiency1Mar 14, 2019
Combined oxidative phosphorylation deficiency 111Oct 16, 2017
Combined oxidative phosphorylation deficiency 133Oct 16, 2017
Combined oxidative phosphorylation deficiency 152Oct 16, 2017
Combined oxidative phosphorylation deficiency 172Oct 16, 2017
Combined oxidative phosphorylation deficiency 181Mar 14, 2019
Cone-rod dystrophy 32Mar 14, 2019
Congenital amegakaryocytic thrombocytopenia3Sep 27, 2019
Congenital bilateral aplasia of vas deferens from CFTR mutation184Sep 27, 2019
Congenital central hypoventilation1Oct 16, 2017
Congenital contractural arachnodactyly1Oct 16, 2017
Congenital disorder of deglycosylation1Aug 17, 2015
Congenital disorder of glycosylation type 1C2Nov 14, 2016
Congenital disorder of glycosylation type 1Q1Oct 16, 2017
Congenital disorder of glycosylation type 1y1Oct 16, 2017
Congenital disorder of glycosylation, type Ia7Sep 27, 2019
Congenital generalized lipodystrophy type 12Nov 14, 2016
Congenital heart defects1Oct 16, 2017
Congenital heart defects and skeletal malformations syndrome1May 26, 2020
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder1Mar 14, 2019
Congenital heart defects, hamartomas of tongue, and polysyndactyly1Oct 16, 2017
Congenital heart defects, multiple types, 23Oct 16, 2017
Congenital heart disease2Jan 10, 2017
Congenital hypomyelinating neuropathy 1, autosomal recessive1Nov 14, 2016
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type5Sep 27, 2019
Congenital muscular dystrophy, LMNA-related2Oct 16, 2017
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A72Oct 16, 2017
Congenital muscular hypertrophy-cerebral syndrome15Apr 8, 2018
Congenital myasthenic syndrome 4C9Sep 27, 2019
Congenital myasthenic syndrome, acetazolamide-responsive2Oct 16, 2017
Congenital myopathy with excess of thin filaments5Oct 16, 2017
Congenital myopathy with fiber type disproportion1Oct 16, 2017
Congenital myotonia, autosomal dominant form3Mar 14, 2019
Congenital myotonia, autosomal recessive form4Mar 14, 2019
Cornelia de Lange syndrome 17Nov 23, 2018
Cornelia de Lange syndrome 34Apr 8, 2018
Cornelia de Lange syndrome 42Apr 8, 2018
Cornelia de Lange syndrome 58Mar 14, 2019
Corpus callosum, partial agenesis of, X-linked1Mar 14, 2019
Cortical dysplasia, complex, with other brain malformations 11Nov 14, 2016
Cortical dysplasia, complex, with other brain malformations 21Aug 17, 2015
Cortical malformations, occipital2Oct 16, 2017
Costello syndrome1Oct 16, 2017
Cowden syndrome 13Apr 1, 2019
Cranioectodermal dysplasia 22Oct 16, 2017
Craniosynostosis 32Nov 14, 2016
Creatine transporter deficiency2May 10, 2019
Crigler-Najjar syndrome type 11Sep 27, 2019
Crouzon syndrome1Nov 23, 2018
Crouzon syndrome with acanthosis nigricans2Mar 14, 2019
Cutis laxa, autosomal dominant 21Mar 14, 2019
Cystic fibrosis185Sep 27, 2019
D-2-hydroxyglutaric aciduria 21Oct 16, 2017
DOORS syndrome1Mar 14, 2019
DPAGT1-CDG1Oct 16, 2017
Danon disease1Oct 16, 2017
Deafness enamel hypoplasia nail defects2Mar 14, 2019
Deafness, autosomal dominant 231Oct 16, 2017
Deafness, autosomal dominant 651Mar 14, 2019
Deafness, autosomal recessive 162Apr 1, 2019
Deafness, autosomal recessive 1A16Sep 27, 2019
Deafness, autosomal recessive 1b16Sep 27, 2019
Deafness, autosomal recessive 772Nov 14, 2016
Deafness, autosomal recessive 861Mar 14, 2019
Deafness, autosomal recessive 91Nov 14, 2016
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase27Sep 27, 2019
Deficiency of alpha-mannosidase5Sep 27, 2019
Deficiency of iodide peroxidase1Nov 14, 2016
Deficiency of transaldolase1Oct 16, 2017
Delayed speech and language development5Jun 14, 2018
Dent disease type 11Oct 16, 2017
Dermatitis, atopic, 21Aug 17, 2015
Desmosterolosis1Oct 16, 2017
Developmental regression2Feb 21, 2020
DiGeorge sequence7Apr 1, 2019
Diabetes mellitus AND insipidus with optic atrophy AND deafness4Nov 14, 2016
Diarrhea 71Oct 16, 2017
Dihydropyrimidine dehydrogenase deficiency7Sep 27, 2019
Dilated cardiomyopathy 1G8Oct 16, 2017
Dilated cardiomyopathy 1O1Mar 14, 2019
Dilated cardiomyopathy 1S2Mar 14, 2019
Dilated cardiomyopathy 1Y2Mar 14, 2019
Distal arthrogryposis type 1A1Oct 16, 2017
Distal arthrogryposis type 5D1Nov 14, 2016
Dominant dystrophic epidermolysis bullosa with absence of skin2Mar 14, 2019
Donnai-Barrow syndrome2Mar 14, 2019
Duchenne muscular dystrophy13Sep 27, 2019
Dysarthria1Aug 17, 2015
Dyskeratosis congenita, X-linked1Oct 16, 2017
Dyskeratosis congenita, autosomal recessive, 51Sep 27, 2019
Dyskinesia, familial, with facial myokymia1Oct 16, 2017
Dyskinesia, seizures, and intellectual developmental disorder1Aug 21, 2017
Dysmorphic features4Jan 10, 2017
Dystonia1Aug 17, 2015
Dystonia 122Mar 14, 2019
Dystonia 162Mar 14, 2019
Dystonia 91Mar 14, 2019
Early infantile epileptic encephalopathy 113Mar 14, 2019
Early infantile epileptic encephalopathy 136Mar 14, 2019
Early infantile epileptic encephalopathy 147Mar 14, 2019
Early infantile epileptic encephalopathy 161Mar 14, 2019
Early infantile epileptic encephalopathy 172Mar 14, 2019
Early infantile epileptic encephalopathy 23Oct 16, 2017
Early infantile epileptic encephalopathy 341Mar 14, 2019
Early infantile epileptic encephalopathy 46Apr 1, 2019
Early infantile epileptic encephalopathy 73Oct 16, 2017
Early infantile epileptic encephalopathy 92Oct 16, 2017
Ehlers-Danlos syndrome due to tenascin-X deficiency2Aug 17, 2015
Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form1Mar 14, 2019
Ehlers-Danlos syndrome, classic type3Apr 1, 2019
Ehlers-Danlos syndrome, hydroxylysine-deficient4Oct 16, 2017
Ehlers-Danlos syndrome, type 41Mar 14, 2019
Ehlers-danlos syndrome, arthrochalasia type, 21Mar 14, 2019
Ellis-van Creveld syndrome2Oct 16, 2017
Encephalocraniocutaneous lipomatosis1Mar 14, 2019
Encephalopathy due to defective mitochondrial and peroxisomal fission 15Mar 14, 2019
Epidermolysis bullosa pruriginosa2Mar 14, 2019
Epidermolysis bullosa simplex1Oct 16, 2017
Epilepsy4Jan 10, 2017
Epilepsy, childhood absence 21Mar 14, 2019
Epilepsy, childhood absence 51Aug 17, 2015
Epilepsy, focal, with speech disorder and with or without mental retardation1Oct 16, 2017
Epilepsy, idiopathic generalized 71Oct 16, 2017
Epilepsy, idiopathic generalized 91Nov 14, 2016
Epilepsy, idiopathic generalized, susceptibility to, 121Mar 14, 2019
Epilepsy, idiopathic generalized, susceptibility to, 141Mar 14, 2019
Epilepsy, nocturnal frontal lobe, 52Mar 14, 2019
Epilepsy, progressive myoclonic 31Oct 16, 2017
Epilepsy, progressive myoclonic 51Aug 17, 2015
Epileptic encephalopathy5Nov 14, 2016
Epileptic encephalopathy, childhood-onset3Oct 16, 2017
Epileptic encephalopathy, early infantile, 252Mar 14, 2019
Epileptic encephalopathy, early infantile, 273Oct 16, 2017
Epileptic encephalopathy, early infantile, 285Apr 1, 2019
Epileptic encephalopathy, early infantile, 311Nov 14, 2016
Epileptic encephalopathy, early infantile, 421Jun 1, 2020
Epiphyseal dysplasia, multiple, 31Nov 14, 2016
Episodic ataxia type 23Oct 16, 2017
Episodic flaccid weakness4Sep 3, 2015
Episodic kinesigenic dyskinesia 11Nov 14, 2016
Ethylmalonic encephalopathy1Nov 14, 2016
Expressive language delay12Jul 10, 2017
FG syndrome 11Oct 16, 2017
FG syndrome 41Mar 14, 2019
FLNA related disorders1Oct 16, 2017
FRAXE1Apr 1, 2019
Factor VII deficiency1Nov 14, 2016
Failure to thrive7Jan 10, 2017
Familial X-linked hypophosphatemic vitamin D refractory rickets1Mar 14, 2019
Familial cancer of breast146Feb 23, 2017
Familial febrile seizures 81Mar 14, 2019
Familial hemiplegic migraine type 12Oct 16, 2017
Familial hemiplegic migraine type 21Oct 16, 2017
Familial hemiplegic migraine type 31Mar 14, 2019
Familial hemophagocytic lymphohistiocytosis 21Oct 16, 2017
Familial hyperkalemic periodic paralysis1Oct 16, 2017
Familial hypertrophic cardiomyopathy 11Mar 14, 2019
Familial hypertrophic cardiomyopathy 31Mar 14, 2019
Familial hypertrophic cardiomyopathy 98Oct 16, 2017
Familial hypokalemia-hypomagnesemia2Aug 17, 2015
Familial isolated deficiency of vitamin E1Sep 27, 2019
Fanconi anemia, complementation group C20Sep 27, 2019
Fanconi anemia, complementation group G1Nov 14, 2016
Fanconi anemia, complementation group O2Aug 31, 2017
Fanconi anemia, complementation group P2Oct 16, 2017
Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young1Mar 14, 2019
Finnish congenital nephrotic syndrome6Sep 27, 2019
Floating-Harbor syndrome1Mar 14, 2019
Fukuyama congenital muscular dystrophy3Sep 27, 2019
Fumarase deficiency2Sep 27, 2019
GLUT1 deficiency syndrome 13Mar 14, 2019
GLUT1 deficiency syndrome 21Mar 14, 2019
GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY2Aug 17, 2015
GM1 gangliosidosis type 23Mar 14, 2019
GM1 gangliosidosis type 32Mar 14, 2019
GNE myopathy5Sep 27, 2019
GRACILE syndrome2Sep 27, 2019
Galactosylceramide beta-galactosidase deficiency6Sep 27, 2019
Gaucher disease type 3C31Sep 27, 2019
Gaucher's disease, type 131Sep 27, 2019
Gaze palsy, familial horizontal, with progressive scoliosis 11Oct 16, 2017
Generalized dominant dystrophic epidermolysis bullosa3Mar 14, 2019
Generalized epilepsy with febrile seizures plus, type 11Apr 1, 2019
Generalized epilepsy with febrile seizures plus, type 22Mar 14, 2019
Genitopatellar syndrome2Mar 14, 2019
Giant axonal neuropathy 13Mar 14, 2019
Gillespie syndrome1Mar 14, 2019
Glaucoma 3, primary congenital, A6Sep 27, 2019
Global developmental delay25Feb 21, 2020
Glutaric aciduria, type 14Sep 27, 2019
Glycogen storage disease IXd1Apr 1, 2019
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA18Sep 27, 2019
Glycogen storage disease type III4Sep 27, 2019
Glycogen storage disease, type II2Oct 16, 2017
Gorlin syndrome2Oct 16, 2017
Griscelli syndrome type 11Oct 16, 2017
Griscelli syndrome type 21Mar 14, 2019
Hamamy syndrome2Nov 14, 2016
Hartsfield syndrome2Mar 14, 2019
Hb SS disease40Sep 27, 2019
Heimler syndrome 21Mar 14, 2019
Helsmoortel-Van der Aa Syndrome1Oct 16, 2017
Hereditary coproporphyria1Nov 14, 2016
Hereditary diffuse leukoencephalopathy with spheroids1Aug 17, 2015
Hereditary fructosuria5Sep 27, 2019
Hereditary hemorrhagic telangiectasia type 11Oct 16, 2017
Hereditary insensitivity to pain with anhidrosis2Aug 17, 2015
Hereditary liability to pressure palsies5Apr 1, 2019
Hereditary sensory and autonomic neuropathy type 11Aug 17, 2015
Hereditary sensory and autonomic neuropathy type IIC2Mar 14, 2019
Hereditary sensory neuropathy type 1D1Mar 14, 2019
Hereditary spastic paraplegia 151Aug 17, 2015
Hereditary spastic paraplegia 22Oct 16, 2017
Hereditary spastic paraplegia 3A3Mar 14, 2019
Hereditary spastic paraplegia 5A1Oct 16, 2017
Holoprosencephaly 31Nov 14, 2016
Holoprosencephaly 93Nov 14, 2016
Holt-Oram syndrome1Apr 1, 2019
Hyaline fibromatosis syndrome2Aug 17, 2015
Hypercholanemia, familial1Oct 16, 2017
Hyperimmunoglobulin D with periodic fever2Aug 17, 2015
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome2Sep 27, 2019
Hyperphosphatasia with mental retardation syndrome 11Oct 16, 2017
Hyperphosphatemic familial tumoral calcinosis 11Oct 16, 2017
Hypertrichotic osteochondrodysplasia Cantu type2Mar 14, 2019
Hypobetalipoproteinemia, familial, 11Nov 14, 2016
Hypocalcemia, autosomal dominant 11Oct 16, 2017
Hypochondroplasia1Mar 14, 2019
Hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities1Aug 17, 2015
Hypogonadotropic hypogonadism 16 with or without anosmia1Apr 1, 2019
Hypogonadotropic hypogonadism 2 with or without anosmia1Mar 14, 2019
Hypogonadotropic hypogonadism 5 with or without anosmia1Mar 14, 2019
Hypokalemic periodic paralysis 11Aug 17, 2015
Hypothyroidism, congenital, nongoitrous, 61Oct 16, 2017
Hypotrichosis 81Nov 14, 2016
Ichthyosis (disease)1Nov 14, 2016
Ichthyosis vulgaris3Nov 14, 2016
Ichthyosis, spastic quadriplegia, and mental retardation2Oct 16, 2017
Indifference to pain, congenital, autosomal recessive1Oct 16, 2017
Infantile GM1 gangliosidosis3Mar 14, 2019
Infantile cerebellar-retinal degeneration2Dec 16, 2015
Infantile liver failure syndrome 12Oct 16, 2017
Infantile muscular hypotonia7Jun 19, 2015
Infantile neuroaxonal dystrophy12Sep 27, 2019
Infantile nystagmus, X-linked1Apr 1, 2019
Intellectual disability19Dec 14, 2020
Intellectual disability, X-linked 1061Mar 14, 2019
Intellectual disability, autosomal dominant 476Apr 8, 2018
Intellectual disability, autosomal dominant 481Apr 1, 2019
Intellectual disability, autosomal dominant 94Aug 20, 2020
Intellectual disability, mild2Aug 17, 2015
Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital2Aug 17, 2015
Iris coloboma3Nov 15, 2017
Isovaleryl-CoA dehydrogenase deficiency15Sep 27, 2019
Jackson-Weiss syndrome1Mar 14, 2019
Joubert syndrome 102Mar 14, 2019
Joubert syndrome 172Mar 14, 2019
Joubert syndrome 62Oct 16, 2017
Junctional epidermolysis bullosa gravis of Herlitz3Sep 27, 2019
Juvenile myelomonocytic leukemia1Mar 14, 2019
Juvenile myoclonic epilepsy1Oct 16, 2017
Juvenile nephropathic cystinosis2Sep 27, 2019
KBG syndrome13Mar 14, 2019
Kabuki syndrome 15Mar 14, 2019
Kabuki syndrome 21Oct 16, 2017
Kleefstra syndrome 13Oct 16, 2017
Klippel-Feil syndrome 1, autosomal dominant1Nov 14, 2016
Koolen-de Vries syndrome5Mar 14, 2019
Kostmann syndrome2Oct 16, 2017
Kufor-Rakeb syndrome2Aug 17, 2015
LEOPARD syndrome 11Mar 14, 2019
Lamb-shaffer syndrome1Mar 14, 2019
Left ventricular noncompaction7Jun 19, 2015
Legius syndrome1Nov 14, 2016
Leigh syndrome1Oct 16, 2017
Leri-Weill dyschondrosteosis1Nov 14, 2016
Leukodystrophy, hypomyelinating, 112Mar 14, 2019
Leukodystrophy, hypomyelinating, 21Oct 16, 2017
Leukodystrophy, hypomyelinating, 63Mar 14, 2019
Leukodystrophy, hypomyelinating, 92Mar 14, 2019
Leukoencephalopathy3Feb 21, 2020
Leukoencephalopathy with vanishing white matter4Sep 27, 2019
Levy-Hollister syndrome1Mar 14, 2019
Limb-girdle muscular dystrophy, type 2A5Sep 27, 2019
Limb-girdle muscular dystrophy, type 2J7Oct 16, 2017
Limb-girdle muscular dystrophy, type 2S1Oct 16, 2017
Lipoyltransferase 1 deficiency2Oct 16, 2017
Lissencephaly 33Mar 14, 2019
Lissencephaly 42Apr 1, 2019
Lissencephaly 52Oct 16, 2017
Lissencephaly due to LIS1 mutation3Oct 16, 2017
Lissencephaly, X-linked1Oct 16, 2017
Loeys-Dietz syndrome 11Oct 16, 2017
Loeys-Dietz syndrome 21Oct 16, 2017
Loeys-Dietz syndrome 41Nov 14, 2016
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency1Sep 27, 2019
Lowe syndrome1Oct 16, 2017
Lymphoproliferative syndrome 2, X-linked1Apr 1, 2019
Lysinuric protein intolerance3Sep 27, 2019
MASA syndrome1Mar 14, 2019
MYH7-related late-onset scapuloperoneal muscular dystrophy1Mar 14, 2019
Macrocephaly/autism syndrome4Mar 14, 2019
Macrocytic dyserythropoietic anemia2Aug 17, 2015
Mandibulofacial dysostosis-microcephaly syndrome2Oct 16, 2017
Marfan syndrome4Mar 14, 2019
Maturity-onset diabetes of the young, type 11Mar 14, 2019
Meckel syndrome, type 32Oct 16, 2017
Medium-chain acyl-coenzyme A dehydrogenase deficiency2Nov 14, 2016
Megaconial type congenital muscular dystrophy1Oct 16, 2017
Megalencephalic leukoencephalopathy with subcortical cysts 11Sep 27, 2019
Megalencephaly-capillary malformation-polymicrogyria syndrome1Oct 16, 2017
Meier-Gorlin syndrome3Jun 23, 2015
Menkes kinky-hair syndrome1Apr 1, 2019
Mental retardation 91, X-linked1Apr 1, 2019
Mental retardation and distinctive facial features with or without cardiac defects3Apr 1, 2019
Mental retardation and microcephaly with pontine and cerebellar hypoplasia2Mar 14, 2019
Mental retardation with language impairment and with or without autistic features4Mar 14, 2019
Mental retardation, X-linked 11Mar 14, 2019
Mental retardation, X-linked 1022Mar 14, 2019
Mental retardation, X-linked 931Nov 14, 2016
Mental retardation, X-linked 983Oct 16, 2017
Mental retardation, X-linked, syndromic 132Mar 14, 2019
Mental retardation, X-linked, syndromic, wu type3Oct 16, 2017
Mental retardation, autosomal dominant 11Oct 16, 2017
Mental retardation, autosomal dominant 111Oct 16, 2017
Mental retardation, autosomal dominant 132Oct 16, 2017
Mental retardation, autosomal dominant 143Mar 14, 2019
Mental retardation, autosomal dominant 153Mar 14, 2019
Mental retardation, autosomal dominant 162Mar 14, 2019
Mental retardation, autosomal dominant 182Apr 1, 2019
Mental retardation, autosomal dominant 193Oct 16, 2017
Mental retardation, autosomal dominant 221Mar 14, 2019
Mental retardation, autosomal dominant 245Oct 16, 2017
Mental retardation, autosomal dominant 271Nov 14, 2016
Mental retardation, autosomal dominant 291Mar 14, 2019
Mental retardation, autosomal dominant 321Nov 14, 2016
Mental retardation, autosomal dominant 57Oct 16, 2017
Mental retardation, autosomal dominant 571Mar 14, 2019
Mental retardation, autosomal dominant 65Oct 16, 2017
Mental retardation, autosomal dominant 76Oct 16, 2017
Mental retardation, autosomal recessive 21Aug 17, 2015
Mental retardation, autosomal recessive 422Mar 14, 2019
Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations1Aug 17, 2015
Mental retardation, syndromic, Claes-Jensen type, X-linked1Nov 14, 2016
Metachondromatosis1Mar 14, 2019
Metachromatic leukodystrophy6Sep 27, 2019
Mevalonic aciduria2Aug 17, 2015
Microcephalic osteodysplastic primordial dwarfism type II1Oct 16, 2017
Microcephaly, normal intelligence and immunodeficiency3Sep 27, 2019
Microcephaly, short stature, and polymicrogyria with or without seizures2Oct 16, 2017
Microcephaly-capillary malformation syndrome1Oct 16, 2017
Microphthalmia, isolated 51Aug 17, 2015
Microphthalmia, syndromic 121Mar 14, 2019
Minicore myopathy with external ophthalmoplegia4Oct 16, 2017
Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)3Oct 16, 2017
Mitochondrial DNA depletion syndrome 22Oct 16, 2017
Mitochondrial DNA depletion syndrome 4B, MNGIE type9Sep 27, 2019
Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria)2Oct 16, 2017
Mitochondrial DNA depletion syndrome, encephalomyopathic form, with renal tubulopathy1Oct 16, 2017
Mitochondrial complex I deficiency5Oct 16, 2017
Mitochondrial complex I deficiency, nuclear type 11Mar 14, 2019
Mitochondrial complex III deficiency, nuclear type 12Nov 14, 2016
Mitochondrial complex IV deficiency1Oct 16, 2017
Mitochondrial short-chain enoyl-coa hydratase 1 deficiency2Mar 14, 2019
Moderate global developmental delay1Dec 6, 2020
Motor delay3Nov 15, 2017
Mowat-Wilson syndrome5Mar 14, 2019
Moyamoya disease 4 with short stature, hypergonadotropic hypogonadism, and facial dysmorphism1Apr 1, 2019
Mucolipidosis type II4Sep 27, 2019
Mucolipidosis type IV9Sep 27, 2019
Mucopolysaccharidosis, MPS-III-A3Sep 27, 2019
Mucopolysaccharidosis, MPS-III-C1Oct 16, 2017
Mucopolysaccharidosis, MPS-IV-B2Mar 14, 2019
Muenke syndrome1Mar 14, 2019
Muir-Torré syndrome1Apr 1, 2019
Multicentric osteolysis, nodulosis and arthropathy1Nov 14, 2016
Multiple congenital anomalies-hypotonia-seizures syndrome 21Oct 16, 2017
Multiple cutaneous and mucosal venous malformations1Oct 16, 2017
Multiple endocrine neoplasia, type 41Apr 1, 2019
Multiple epiphyseal dysplasia 61Nov 14, 2016
Multiple gastrointestinal atresias1Oct 16, 2017
Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects1Oct 16, 2017
Multiple mitochondrial dysfunctions syndrome 41Nov 14, 2016
Multiple sulfatase deficiency1Oct 16, 2017
Multisystemic smooth muscle dysfunction syndrome1Oct 16, 2017
Muscle eye brain disease3Sep 27, 2019
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 11Oct 16, 2017
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 112Oct 16, 2017
Muscular hypotonia2Nov 12, 2016
Myasthenia, limb-girdle, familial6Sep 27, 2019
Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency2Mar 14, 2019
Myoclonic epilepsy, familial infantile1Mar 14, 2019
Myoclonic-atonic epilepsy2Mar 14, 2019
Myofibrillar myopathy 11Aug 17, 2015
Myofibrillar myopathy, BAG3-related1Oct 16, 2017
Myopathy with postural muscle atrophy, X-linked1Mar 14, 2019
Myopathy, areflexia, respiratory distress, and dysphagia, early-onset1Nov 14, 2016
Myopathy, centronuclear, 13Oct 16, 2017
Myopathy, distal, 11Mar 14, 2019
Myopathy, early-onset, with fatal cardiomyopathy7Oct 16, 2017
Myopathy, lactic acidosis, and sideroblastic anemia 22Aug 17, 2015
Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay2Oct 16, 2017
Myopathy, myofibrillar, 9, with early respiratory failure9Apr 1, 2019
Myopathy, myosin storage, autosomal recessive1Mar 14, 2019
Myopathy, proximal, and ophthalmoplegia1Nov 14, 2016
Myopathy, reducing body, X-linked, childhood-onset1Mar 14, 2019
Myopathy, reducing body, X-linked, early-onset, severe1Mar 14, 2019
Myosin storage myopathy1Mar 14, 2019
N-terminal acetyltransferase deficiency2Mar 14, 2019
Nail disorder, nonsyndromic congenital, 82Mar 14, 2019
Nemaline myopathy 11Oct 16, 2017
Nemaline myopathy 51Apr 1, 2019
Neonatal ichthyosis-sclerosing cholangitis syndrome1Apr 1, 2019
Neonatal intrahepatic cholestasis caused by citrin deficiency8Sep 27, 2019
Nephrogenic diabetes insipidus, X-linked1Nov 14, 2016
Nephrolithiasis/osteoporosis, hypophosphatemic, 21Oct 16, 2017
Nephronophthisis 11Apr 1, 2019
Nephronophthisis 133Apr 1, 2019
Nephronophthisis 141Mar 14, 2019
Nephropathic cystinosis2Sep 27, 2019
Neu-Laxova syndrome 11Mar 14, 2019
Neurodegeneration with brain iron accumulation 52Mar 14, 2019
Neurodevelopmental disorder1Mar 14, 2019
Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination1Mar 14, 2019
Neurodevelopmental disorder with involuntary movements1Mar 14, 2019
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant3Oct 16, 2017
Neurodevelopmental disorder with severe motor impairment and absent language1Mar 14, 2019
Neurofibromatosis, type 12Oct 16, 2017
Neurofibromatosis, type 21Mar 14, 2019
Neuronal ceroid lipofuscinosis 12Sep 27, 2019
Neuronal ceroid lipofuscinosis 51Sep 27, 2019
Neuronal ceroid lipofuscinosis 81Sep 27, 2019
Nicolaides-Baraitser syndrome2Oct 16, 2017
Niemann-Pick disease type C113Sep 27, 2019
Niemann-Pick disease, type A39Sep 27, 2019
Niemann-Pick disease, type C21Oct 16, 2017
Non-ketotic hyperglycinemia4Sep 27, 2019
Noonan syndrome 16Mar 14, 2019
Noonan syndrome 33Mar 14, 2019
Noonan syndrome 51Nov 23, 2018
Noonan syndrome 82Nov 23, 2018
Noonan syndrome-like disorder with loose anagen hair 11Oct 16, 2017
Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia2Mar 14, 2019
Ocular cystinosis2Sep 27, 2019
Oculocutaneous albinism type 1B1Oct 16, 2017
Oculocutaneous albinism type 41Nov 14, 2016
Optic atrophy 53Mar 14, 2019
Orofaciodigital syndrome I2Mar 14, 2019
Orofaciodigital syndrome type 62Mar 14, 2019
Osteogenesis imperfecta12Nov 23, 2018
Osteogenesis imperfecta type I1Aug 17, 2015
Osteogenesis imperfecta type III2Mar 14, 2019
Osteogenesis imperfecta with normal sclerae, dominant form1Mar 14, 2019
Osteogenesis imperfecta, recessive perinatal lethal1Mar 14, 2019
Osteoglophonic dysplasia1Mar 14, 2019
Osteopetrosis with renal tubular acidosis1Nov 14, 2016
Otospondylomegaepiphyseal dysplasia, autosomal recessive1Oct 16, 2017
PDS5A-related disorder2Apr 8, 2018
Parkinson disease 141Aug 17, 2015
Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy1Oct 16, 2017
Pelizaeus-Merzbacher disease4Oct 16, 2017
Pena-Shokeir syndrome type I4Mar 14, 2019
Pendred syndrome11Sep 27, 2019
Peroxisome biogenesis disorder 1A (Zellweger)28Sep 27, 2019
Peroxisome biogenesis disorder 1B27Sep 27, 2019
Peroxisome biogenesis disorder 3A1Oct 16, 2017
Peroxisome biogenesis disorder 4B1Mar 14, 2019
Peroxisome biogenesis disorder 4a (zellweger)1Mar 14, 2019
Peroxisome biogenesis disorder 8B2Oct 16, 2017
Perrault syndrome 42Mar 14, 2019
Pfeiffer syndrome2Mar 14, 2019
Phenylketonuria22Sep 27, 2019
Phosphoglycerate dehydrogenase deficiency1Mar 14, 2019
Pitt-Hopkins syndrome4Oct 16, 2017
Pitt-Hopkins-like syndrome 21Oct 16, 2017
Pituitary hormone deficiency, combined 21Sep 27, 2019
Pontocerebellar hypoplasia type 1A2Aug 17, 2015
Pontocerebellar hypoplasia type 2A2Oct 16, 2017
Pontocerebellar hypoplasia type 42Oct 16, 2017
Pontocerebellar hypoplasia type 64Mar 14, 2019
Pontocerebellar hypoplasia, type 1b1Oct 16, 2017
Porencephaly 21Oct 16, 2017
Postaxial polydactyly type A11Nov 14, 2016
Postnatal microcephaly10Jul 10, 2017
Prader-Willi syndrome5Apr 1, 2019
Pretibial epidermolysis bullosa2Mar 14, 2019
Primary autosomal recessive microcephaly 103Mar 14, 2019
Primary dilated cardiomyopathy2Aug 17, 2015
Primary erythromelalgia1Aug 17, 2015
Primary hyperoxaluria, type I5Sep 27, 2019
Primary hyperoxaluria, type II1Sep 27, 2019
Progressive familial intrahepatic cholestasis 21Apr 1, 2019
Progressive familial intrahepatic cholestasis 41Nov 14, 2016
Progressive myositis ossificans1Mar 14, 2019
Progressive sclerosing poliodystrophy9Sep 27, 2019
Propionic acidemia7Sep 27, 2019
Pseudohypoparathyroidism1Aug 17, 2015
Pseudohypoparathyroidism type 1B1Apr 1, 2019
Pseudopseudohypoparathyroidism1Aug 17, 2015
Pseudoxanthoma elasticum2Aug 17, 2015
Pseudoxanthoma elasticum, forme fruste1Aug 17, 2015
Pyridoxal phosphate-responsive seizures1Mar 14, 2019
Pyruvate dehydrogenase E1-alpha deficiency6Oct 16, 2017
Pyruvate dehydrogenase E3-binding protein deficiency1Oct 16, 2017
RAS-associated autoimmune leukoproliferative disorder2Mar 14, 2019
Radial aplasia-thrombocytopenia syndrome1Apr 1, 2019
Rasopathy48Oct 16, 2017
Recessive dystrophic epidermolysis bullosa2Mar 14, 2019
Renal carnitine transport defect11Sep 27, 2019
Renal hypouricemia 21Nov 14, 2016
Renpenning syndrome 13Oct 16, 2017
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations2Mar 14, 2019
Retinitis pigmentosa 151Apr 1, 2019
Retinitis pigmentosa 192Mar 14, 2019
Retinitis pigmentosa 393Aug 17, 2015
Rett syndrome4Mar 14, 2019
Rett syndrome, congenital variant1Oct 16, 2017
Rhizomelic chondrodysplasia punctata type 116Sep 27, 2019
Robinow syndrome, autosomal dominant 11Oct 16, 2017
Robinow syndrome, autosomal dominant 31Mar 14, 2019
Rothmund-Thomson syndrome1Oct 16, 2017
Rubinstein-Taybi syndrome 12Mar 14, 2019
Rubinstein-Taybi syndrome 23Mar 14, 2019
Russell-Silver syndrome1Apr 1, 2019
SHORT syndrome1Aug 17, 2015
SLC35A2-CDG1Nov 14, 2016
STAG2-related disorder6Apr 8, 2018
Saldino-Mainzer syndrome1Apr 1, 2019
Salla disease3Sep 27, 2019
Sandhoff disease4Sep 27, 2019
Scapuloperoneal myopathy, X-linked dominant1Mar 14, 2019
Schaaf-Yang syndrome3Oct 16, 2017
Schinzel-Giedion syndrome1Mar 14, 2019
Schuurs-hoeijmakers syndrome1Oct 16, 2017
Schwartz-Jampel syndrome2Aug 17, 2015
Seizures7Oct 16, 2017
Seizures, benign familial infantile, 31Mar 14, 2019
Seizures, benign familial infantile, 53Mar 14, 2019
Seizures, cortical blindness, and microcephaly syndrome1Apr 1, 2019
Sengers syndrome2Aug 17, 2015
Senior-Loken syndrome 82Mar 14, 2019
Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome1Oct 16, 2017
Severe X-linked myotubular myopathy1Mar 14, 2019
Severe achondroplasia with developmental delay and acanthosis nigricans1Mar 14, 2019
Severe combined immunodeficiency due to ADA deficiency1Apr 1, 2019
Severe congenital neutropenia 4, autosomal recessive1Oct 16, 2017
Severe myoclonic epilepsy in infancy6Mar 14, 2019
Severe neonatal hypotonia improving with age1Oct 16, 2017
Severe neonatal-onset encephalopathy with microcephaly1Mar 14, 2019
Short QT syndrome 31Mar 14, 2019
Short stature with microcephaly and distinctive facies3Apr 1, 2019
Short stature, idiopathic, X-linked1Nov 14, 2016
Short-rib thoracic dysplasia 3 with or without polydactyly2Oct 16, 2017
Shprintzen-Goldberg syndrome1Oct 16, 2017
Sialuria5Sep 27, 2019
Simpson-Golabi-Behmel syndrome type 11Apr 1, 2019
Simpson-Golabi-Behmel syndrome, type 22Mar 14, 2019
Situs inversus totalis2May 29, 2016
Sjögren-Larsson syndrome1Sep 27, 2019
Slowed nerve conduction velocity, autosomal dominant1Nov 14, 2016
Smith-Lemli-Opitz syndrome43Sep 27, 2019
Smith-Magenis syndrome1Apr 1, 2019
Sotos syndrome 16Oct 16, 2017
Sotos syndrome 21Aug 17, 2015
Spastic paraplegia2Oct 16, 2017
Spastic paraplegia 11, autosomal recessive3Oct 16, 2017
Spastic paraplegia 30, autosomal recessive4Aug 20, 2020
Spastic paraplegia 4, autosomal dominant2Mar 14, 2019
Spastic paraplegia 49, autosomal recessive1Nov 14, 2016
Spastic paraplegia 50, autosomal recessive2Oct 16, 2017
Spastic paraplegia 55, autosomal recessive1Oct 16, 2017
Specific language impairment 51Apr 1, 2019
Spinal muscular atrophy, distal, autosomal recessive, 11Oct 16, 2017
Spinal muscular atrophy, lower extremity predominant 1, autosomal dominant1Oct 16, 2017
Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant1Oct 16, 2017
Spinal muscular atrophy-progressive myoclonic epilepsy syndrome2Oct 16, 2017
Spinocerebellar ataxia type 161Mar 14, 2019
Spinocerebellar ataxia type 292Mar 14, 2019
Spinocerebellar ataxia, X-linked 11Oct 16, 2017
Spinocerebellar ataxia, autosomal recessive 124Mar 14, 2019
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 24Oct 16, 2017
Split hand-foot malformation 31Apr 1, 2019
Spondyloepimetaphyseal dysplasia, pakistani type1Oct 16, 2017
Spongy degeneration of central nervous system13Sep 27, 2019
Stargardt disease 12Mar 14, 2019
Stickler syndrome type 22Oct 16, 2017
Stomatin-deficient cryohydrocytosis with neurologic defects1Mar 14, 2019
Stormorken syndrome1Mar 14, 2019
Stüve-Wiedemann syndrome2Oct 16, 2017
Subacute neuronopathic Gaucher's disease31Sep 27, 2019
Syndactyly, type V1Mar 14, 2019
Syndromic X-linked intellectual disability Lubs type2Apr 1, 2019
Syndromic X-linked intellectual disability Siderius type1Nov 14, 2016
Syndromic X-linked intellectual disability Turner type2Oct 16, 2017
Syndromic mental retardation, Nascimento type, X-linked1Apr 1, 2019
Syndromic microphthalmia type 51Oct 16, 2017
Synpolydactyly 11Mar 14, 2019
TARP syndrome2Apr 1, 2019
Tangier disease1Nov 14, 2016
Tay-Sachs disease4Oct 16, 2017
Telangiectasia, hereditary hemorrhagic, type 21Oct 16, 2017
Temtamy syndrome1Oct 16, 2017
Tetralogy of Fallot2Apr 1, 2019
Thanatophoric dysplasia type 15Mar 14, 2019
Thanatophoric dysplasia, type 22Mar 14, 2019
Three M syndrome 22Nov 14, 2016
Tibial muscular dystrophy8Oct 16, 2017
Transient bullous dermolysis of the newborn2Mar 14, 2019
Treacher Collins syndrome 32Mar 14, 2019
Trichohepatoenteric syndrome 12Oct 16, 2017
Trichohepatoenteric syndrome 21Oct 16, 2017
Trichorhinophalangeal dysplasia type I1Nov 4, 2016
Trigonocephaly 11Mar 14, 2019
Tuberous sclerosis 11Oct 16, 2017
Tuberous sclerosis 23Nov 23, 2018
Tyrosinase-negative oculocutaneous albinism3Oct 16, 2017
Tyrosinemia type I19Sep 27, 2019
Ullrich congenital muscular dystrophy 11Oct 16, 2017
Ullrich congenital muscular dystrophy 21Mar 14, 2019
Uruguay faciocardiomusculoskeletal syndrome1Mar 14, 2019
Usher Syndrome, Type III2Sep 27, 2019
Usher syndrome type 116Sep 27, 2019
Usher syndrome, type 2A12Sep 27, 2019
VACTERL association with hydrocephalus1Mar 14, 2019
Van der Woude syndrome1Oct 16, 2017
Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness1Oct 16, 2017
Verheij syndrome2Apr 1, 2019
Very long chain acyl-CoA dehydrogenase deficiency8Sep 27, 2019
Visceral myopathy1Mar 14, 2019
WAPL-related disorder1Apr 8, 2018
Waardenburg syndrome type 2E1Nov 14, 2016
Warburg micro syndrome 12Oct 16, 2017
Warburg micro syndrome 21Mar 14, 2019
Wiedemann-Steiner syndrome5Mar 14, 2019
Williams syndrome5Apr 1, 2019
Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome1Apr 1, 2019
Wilson disease13Sep 27, 2019
X-linked hydrocephalus syndrome1Mar 14, 2019
X-linked ichthyosis with steryl-sulfatase deficiency3Apr 1, 2019
X-linked intellectual disability-hypotonic face syndrome3Mar 14, 2019
Xeroderma pigmentosum group A1Oct 16, 2017
Xeroderma pigmentosum, group C1Oct 16, 2017
Xia-Gibbs syndrome1Mar 14, 2019
alpha Thalassemia2Apr 1, 2019
beta Thalassemia2Nov 14, 2016
not provided135Apr 1, 2019

Testing in GTR

Disease nameNumber of tests
3 Methylcrotonyl-CoA carboxylase 1 deficiency11 tests
3 beta-Hydroxysteroid dehydrogenase deficiency1 test
3-Methylglutaconic aciduria type 18 tests
3-Methylglutaconic aciduria type 27 tests
3-Methylglutaconic aciduria type 37 tests
3-methylcrotonyl CoA carboxylase 2 deficiency9 tests
3-methylglutaconic aciduria type V4 tests
46,XX sex reversal, type 12 tests
46,XY sex reversal, type 11 test
AICAR transformylase/IMP cyclohydrolase deficiency1 test
ALG1-CDG5 tests
ALG12-congenital disorder of glycosylation5 tests
ALG2-CDG2 tests
ALG3-CDG5 tests
ALG8-CDG4 tests
ALG9 congenital disorder of glycosylation5 tests
Abetalipoproteinaemia4 tests
Abnormal chromosome morphology1 test
Acatalasia1 test
Acetyl-CoA acetyltransferase-2 deficiency1 test
Acetyl-CoA: carboxylase deficiency6 tests
Achondrogenesis type II6 tests
Achondrogenesis, type IB3 tests
Achondroplasia2 tests
Achromatopsia 21 test
Achromatopsia 31 test
Achromatopsia 41 test
Acne inversa, familial, 31 test
Acrocephalosyndactyly type I1 test
Acrodysostosis 1 with or without hormone resistance2 tests
Acromicric dysplasia5 tests
Acute alcohol sensitivity1 test
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins6 tests
Acute lymphoid leukemia8 tests
Acute myeloid leukemia22 tests
Acute neuronopathic Gaucher's disease6 tests
Acute promyelocytic leukemia1 test
Acyl-CoA dehydrogenase family, member 9, deficiency of7 tests
Adenine phosphoribosyltransferase deficiency3 tests
Adenylate kinase deficiency, hemolytic anemia due to1 test
Adenylosuccinate lyase deficiency8 tests
Adrenal insufficiency, congenital, with 46,XY sex reversal, partial or complete1 test
Adrenocortical carcinoma, hereditary17 tests
Adrenoleukodystrophy7 tests
Adult hypophosphatasia9 tests
Age-related macular degeneration 101 test
Age-related macular degeneration 27 tests
Age-related macular degeneration 31 test
Agenesis of the corpus callosum with peripheral neuropathy5 tests
Alagille syndrome 13 tests
Albinism, ocular, with sensorineural deafness4 tests
Alkaptonuria1 test
Alpha-1-antitrypsin deficiency5 tests
Alpha-B crystallinopathy1 test
Alpha-methylacyl-CoA racemase deficiency4 tests
Alport syndrome, autosomal recessive4 tests
Alstrom syndrome1 test
Alzheimer disease2 tests
Alzheimer disease, type 31 test
Aminoglycoside-induced deafness5 tests
Amish lethal microcephaly1 test
Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia1 test
Amyotrophic lateral sclerosis 203 tests
Amyotrophic lateral sclerosis type 11 test
Amyotrophic lateral sclerosis type 123 tests
Amyotrophy, hereditary neuralgic3 tests
Anauxetic dysplasia 14 tests
Androgen resistance syndrome4 tests
Anemia, nonspherocytic hemolytic, due to G6PD deficiency4 tests
Anemia, sideroblastic, 11 test
Anemia, sideroblastic, 2, pyridoxine-refractory1 test
Angelman syndrome19 tests
Anhaptoglobinemia1 test
Aniridia 11 test
Anophthalmia/microphthalmia-esophageal atresia syndrome1 test
Anterior segment dysgenesis 11 test
Anterior segment dysgenesis 31 test
Anterior segment dysgenesis 41 test
Anxiety2 tests
Aplastic anemia5 tests
Arginase deficiency8 tests
Arginine:glycine amidinotransferase deficiency9 tests
Argininosuccinate lyase deficiency8 tests
Arrhythmogenic right ventricular dysplasia 81 test
Arteriohepatic dysplasia4 tests
Arthrogryposis, mental retardation, and seizures4 tests
Aspartate aminotransferase, serum level of, quantitative trait locus 11 test
Aspartylglucosaminuria6 tests
Ataxia, spastic, 3, autosomal recessive1 test
Ataxia, spastic, 4, autosomal recessive1 test
Ataxia-oculomotor apraxia type 14 tests
Ataxia-telangiectasia syndrome12 tests
Ataxia-telangiectasia-like disorder3 tests
Ataxia-telangiectasia-like disorder 13 tests
Atelosteogenesis type II2 tests
Atrophia bulborum hereditaria4 tests
Autism, susceptibility to, X-linked 37 tests
Autism, susceptibility to, X-linked 66 tests
Autistic disorder of childhood onset2 tests
Autoimmune lymphoproliferative syndrome type 2B1 test
Autosomal dominant nonsyndromic deafness 61 test
Autosomal dominant osteopetrosis 11 test
Autosomal dominant osteopetrosis 25 tests
Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 17 tests
Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 27 tests
Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 37 tests
Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 48 tests
Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 57 tests
Autosomal recessive DOPA responsive dystonia5 tests
Autosomal recessive congenital ichthyosis 15 tests
Autosomal recessive congenital ichthyosis 4A1 test
Autosomal recessive congenital ichthyosis 4B1 test
Autosomal recessive cutis laxa type 2B1 test
Autosomal recessive cutis laxa type 3B1 test
Autosomal recessive cutis laxa type IA1 test
Autosomal recessive limb-girdle muscular dystrophy type 2D3 tests
Autosomal recessive limb-girdle muscular dystrophy type 2E3 tests
Autosomal recessive osteopetrosis 16 tests
Autosomal recessive osteopetrosis 21 test
Autosomal recessive osteopetrosis 44 tests
Autosomal recessive osteopetrosis 72 tests
Autosomal recessive polycystic kidney disease7 tests
Avascular necrosis of the head of femur6 tests
Avellino corneal dystrophy1 test
Axenfeld-Rieger syndrome type 14 tests
Axenfeld-Rieger syndrome type 31 test
B4GALT1-CDG5 tests
BCC13 tests
BH4-deficient hyperphenylalaninemia A7 tests
Bannayan-Riley-Ruvalcaba syndrome7 tests
Bardet-Biedl syndrome4 tests
Bardet-Biedl syndrome 18 tests
Bardet-Biedl syndrome 106 tests
Bardet-Biedl syndrome 123 tests
Bardet-Biedl syndrome 145 tests
Bardet-Biedl syndrome 153 tests
Bardet-Biedl syndrome 27 tests
Bardet-Biedl syndrome 33 tests
Bardet-Biedl syndrome 43 tests
Bardet-Biedl syndrome 53 tests
Bardet-Biedl syndrome 73 tests
Bardet-Biedl syndrome 93 tests
Bare lymphocyte syndrome type 11 test
Basal cell carcinoma, susceptibility to, 712 tests
Becker muscular dystrophy8 tests
Beckwith-Wiedemann syndrome5 tests
Benign familial neonatal seizures 13 tests
Benign recurrent intrahepatic cholestasis type 26 tests
Bestrophinopathy, autosomal recessive5 tests
Beta-D-mannosidosis1 test
Beta-hydroxyisobutyryl-CoA deacylase deficiency1 test
Beta-thalassemia, dominant inclusion body type2 tests
Bietti crystalline corneoretinal dystrophy1 test
Bifunctional peroxisomal enzyme deficiency7 tests
Biotinidase deficiency12 tests
Blepharophimosis, ptosis, and epicanthus inversus1 test
Bloom syndrome11 tests
Body mass index quantitative trait locus 122 tests
Body mass index quantitative trait locus 41 test
Bone fragility with contractures, arterial rupture, and deafness1 test
Bone marrow transplant1 test
Bone mineral density quantitative trait locus 11 test
Bothnia retinal dystrophy6 tests
Bradyopsia1 test
Branchiootic syndrome1 test
Branchiootorenal Syndrome 11 test
Breast-ovarian cancer, familial 110 tests
Breast-ovarian cancer, familial 211 tests
Breast-ovarian cancer, familial 34 tests
Breast-ovarian cancer, familial 44 tests
Bronchiectasis with or without elevated sweat chloride 16 tests
Bruck syndrome 22 tests
Brunner syndrome1 test
Budd-Chiari syndrome2 tests
Bull's eye macular dystrophy5 tests
Burkitt lymphoma1 test
CHARGE association7 tests
COG1 congenital disorder of glycosylation5 tests
COG7 congenital disorder of glycosylation5 tests
COVID-191 test
Camptodactyly, tall stature, and hearing loss syndrome (CATSHL syndrome)1 test
Camptodactyly-tall stature-scoliosis-hearing loss syndrome1 test
Carcinoid tumor of intestine4 tests
Carcinoma of cervix1 test
Carcinoma of colon13 tests
Carcinoma of pancreas17 tests
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency6 tests
Cardiofaciocutaneous syndrome 14 tests
Cardiofaciocutaneous syndrome 31 test
Cardiofaciocutaneous syndrome 41 test
Cardiomyopathy, dilated, 1u1 test
Carney complex, type 15 tests
Carney-Stratakis syndrome5 tests
Carnitine acylcarnitine translocase deficiency8 tests
Carnitine palmitoyltransferase 1A deficiency12 tests
Carnitine palmitoyltransferase II deficiency, infantile13 tests
Carnitine palmitoyltransferase II deficiency, lethal neonatal11 tests
Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced11 tests
Carotid intimal medial thickness 11 test
Cataract 114 tests
Cataract 16, multiple types1 test
Cataract 181 test
Cataract 401 test
Cerebral amyloid angiopathy, APP-related1 test
Cerebral palsy, spastic quadriplegic, 11 test
Ceroid lipofuscinosis neuronal 26 tests
Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant2 tests
Charcot-Marie-Tooth disease dominant intermediate d1 test
Charcot-Marie-Tooth disease type 2D1 test
Charcot-Marie-Tooth disease type 2I1 test
Charcot-Marie-Tooth disease type 2J1 test
Charcot-Marie-Tooth disease, demyelinating, type 1b1 test
Charcot-Marie-Tooth disease, recessive intermediate B6 tests
Charcot-Marie-Tooth disease, recessive intermediate d3 tests
Charcot-Marie-Tooth disease, type 2A11 test
Charcot-Marie-Tooth disease, type 2A2A3 tests
Charcot-Marie-Tooth disease, type 4k1 test
Charcot-Marie-Tooth disease, type IA1 test
Charlevoix-Saguenay spastic ataxia5 tests
Childhood hypophosphatasia7 tests
Cholestanol storage disease6 tests
Cholestasis of pregnancy1 test
Cholestasis, benign recurrent intrahepatic 15 tests
Cholestasis, intrahepatic, of pregnancy 34 tests
Cholestasis, progressive familial intrahepatic 11 test
Cholesterol monooxygenase (side-chain cleaving) deficiency1 test
Choroid plexus papilloma17 tests
Choroidal dystrophy, central areolar 26 tests
Choroideremia1 test
Christianson syndrome1 test
Chromosome 5q deletion syndrome1 test
Chromosome 8, partial trisomy1 test
Chronic granulomatous disease, X-linked1 test
Chronic lymphocytic leukemia1 test
Chronic myelogenous leukemia, BCR-ABL1 positive4 tests
Ciliary dyskinesia, primary, 141 test
Citrullinemia type I9 tests
Citrullinemia type II10 tests
Classic homocystinuria11 tests
Cleidocranial dysostosis3 tests
Cobalamin C disease12 tests
Coenzyme Q10 deficiency, primary 16 tests
Coenzyme Q10 deficiency, primary, 21 test
Coenzyme Q10 deficiency, primary, 36 tests
Coenzyme Q10 deficiency, primary, 46 tests
Coenzyme Q10 deficiency, primary, 51 test
Coenzyme Q10 deficiency, primary, 61 test
Coloboma of optic disc2 tests
Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome1 test
Combined deficiency of sialidase AND beta galactosidase2 tests
Combined immunodeficiency, X-linked3 tests
Combined malonic and methylmalonic aciduria6 tests
Combined molybdoflavoprotein enzyme deficiency9 tests
Combined oxidative phosphorylation deficiency 18 tests
Combined oxidative phosphorylation deficiency 104 tests
Combined oxidative phosphorylation deficiency 123 tests
Combined oxidative phosphorylation deficiency 145 tests
Combined oxidative phosphorylation deficiency 152 tests
Combined oxidative phosphorylation deficiency 164 tests
Combined oxidative phosphorylation deficiency 21 test
Combined oxidative phosphorylation deficiency 224 tests
Combined oxidative phosphorylation deficiency 245 tests
Combined oxidative phosphorylation deficiency 254 tests
Combined oxidative phosphorylation deficiency 36 tests
Combined oxidative phosphorylation deficiency 353 tests
Combined oxidative phosphorylation deficiency 41 test
Combined oxidative phosphorylation deficiency 56 tests
Combined oxidative phosphorylation deficiency 64 tests
Combined oxidative phosphorylation deficiency 75 tests
Combined oxidative phosphorylation deficiency 86 tests
Combined oxidative phosphorylation deficiency 94 tests
Combined saposin deficiency1 test
Conduction disorder of the heart1 test
Cone dystrophy 31 test
Cone dystrophy 41 test
Cone dystrophy with supernormal rod response1 test
Cone monochromatism1 test
Cone-rod dystrophy 13 tests
Cone-rod dystrophy 101 test
Cone-rod dystrophy 126 tests
Cone-rod dystrophy 137 tests
Cone-rod dystrophy 156 tests
Cone-rod dystrophy 161 test
Cone-rod dystrophy 27 tests
Cone-rod dystrophy 37 tests
Cone-rod dystrophy 51 test
Cone-rod dystrophy 66 tests
Cone-rod dystrophy 71 test
Cone-rod dystrophy 91 test
Cone-rod dystrophy, X-linked 11 test
Congenital amegakaryocytic thrombocytopenia5 tests
Congenital bilateral aplasia of vas deferens from CFTR mutation6 tests
Congenital bile acid synthesis defect 23 tests
Congenital bile acid synthesis defect 41 test
Congenital central hypoventilation7 tests
Congenital chromosomal disease2 tests
Congenital disorder of deglycosylation3 tests
Congenital disorder of glycosylation type 1C5 tests
Congenital disorder of glycosylation type 1E2 tests
Congenital disorder of glycosylation type 1M5 tests
Congenital disorder of glycosylation type 1N2 tests
Congenital disorder of glycosylation type 1O2 tests
Congenital disorder of glycosylation type 1P3 tests
Congenital disorder of glycosylation type 1Q2 tests
Congenital disorder of glycosylation type 1t6 tests
Congenital disorder of glycosylation type 2B4 tests
Congenital disorder of glycosylation type 2F5 tests
Congenital disorder of glycosylation type 2H5 tests
Congenital disorder of glycosylation type 2J1 test
Congenital disorder of glycosylation type 2L1 test
Congenital disorder of glycosylation type 2i3 tests
Congenital disorder of glycosylation type 2k3 tests
Congenital disorder of glycosylation type Ir4 tests
Congenital disorder of glycosylation, type IIa2 tests
Congenital disorder of glycosylation, type Ia12 tests
Congenital hyperammonemia, type I7 tests
Congenital hypomyelinating neuropathy1 test
Congenital hypothyroidism3 tests
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type9 tests
Congenital muscular dystrophy-dystroglycanopathy without mental retardation, type B44 tests
Congenital muscular hypertrophy-cerebral syndrome1 test
Congenital myasthenic syndrome 131 test
Congenital myasthenic syndrome 4C2 tests
Congenital stationary night blindness, autosomal dominant 11 test
Congenital stationary night blindness, autosomal dominant 25 tests
Congenital stationary night blindness, autosomal dominant 31 test
Congenital stationary night blindness, type 1A1 test
Congenital stationary night blindness, type 1B1 test
Congenital stationary night blindness, type 1C1 test
Congenital stationary night blindness, type 1D1 test
Congenital stationary night blindness, type 2A1 test
Congenital stationary night blindness, type 2B7 tests
Corneal dystrophy, Fuchs endothelial, 61 test
Corneal dystrophy, lattice type 3A1 test
Corneal epithelial dystrophy1 test
Cornelia de Lange syndrome 11 test
Cornelia de Lange syndrome 31 test
Cornelia de Lange syndrome 41 test
Cornelia de Lange syndrome 51 test
Coronary artery disease, autosomal dominant, 12 tests
Corpus callosum agenesis-abnormal genitalia syndrome6 tests
Cortical dysplasia, complex, with other brain malformations 11 test
Corticosterone methyloxidase type 1 deficiency1 test
Corticosterone methyloxidase type 2 deficiency1 test
Costello syndrome4 tests
Cowden syndrome1 test
Cowden syndrome 114 tests
Coxa plana6 tests
Craniodiaphyseal dysplasia, autosomal dominant1 test
Craniofacial anomalies and anterior segment dysgenesis syndrome1 test
Craniometaphyseal dysplasia, autosomal dominant1 test
Creatine transporter deficiency6 tests
Crigler-Najjar syndrome2 tests
Crigler-Najjar syndrome type 13 tests
Crigler-Najjar syndrome, type II2 tests
Crouzon syndrome1 test
Crouzon syndrome with acanthosis nigricans2 tests
Cutaneous malignant melanoma 114 tests
Cutaneous malignant melanoma 25 tests
Cutaneous malignant melanoma 37 tests
Cutaneous malignant melanoma 51 test
Cutis laxa with osteodystrophy2 tests
Cutis laxa, X-linked5 tests
Cutis laxa, autosomal dominant 11 test
Cutis laxa, autosomal dominant 21 test
Cutis laxa, autosomal recessive IIIA1 test
Cystic fibrosis20 tests
Cystinuria1 test
Czech dysplasia, metatarsal type6 tests
D-2-hydroxyglutaric aciduria 11 test
D-2-hydroxyglutaric aciduria 21 test
DPAGT1-CDG1 test
Deafness dystonia syndrome6 tests
Deafness enamel hypoplasia nail defects1 test
Deafness, X-linked 23 tests
Deafness, autosomal dominant 101 test
Deafness, autosomal dominant 114 tests
Deafness, autosomal dominant 3a5 tests
Deafness, autosomal dominant 3b1 test
Deafness, autosomal dominant 641 test
Deafness, autosomal recessive 124 tests
Deafness, autosomal recessive 185 tests
Deafness, autosomal recessive 1A9 tests
Deafness, autosomal recessive 1b1 test
Deafness, autosomal recessive 233 tests
Deafness, autosomal recessive 316 tests
Deafness, autosomal recessive 4, with enlarged vestibular aqueduct1 test
Deafness, autosomal recessive 741 test
Deafness, autosomal recessive 972 tests
Deafness, congenital heart defects, and posterior embryotoxon4 tests
Deficiency of 2-methylbutyryl-CoA dehydrogenase8 tests
Deficiency of 3-hydroxyacyl-CoA dehydrogenase2 tests
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase11 tests
Deficiency of acetyl-CoA acetyltransferase8 tests
Deficiency of alpha-mannosidase6 tests
Deficiency of butyryl-CoA dehydrogenase8 tests
Deficiency of cytochrome-b5 reductase1 test
Deficiency of galactokinase6 tests
Deficiency of glycerate kinase1 test
Deficiency of glycerol kinase2 tests
Deficiency of guanidinoacetate methyltransferase9 tests
Deficiency of hydroxymethylglutaryl-CoA lyase11 tests
Deficiency of isobutyryl-CoA dehydrogenase6 tests
Deficiency of malonyl-CoA decarboxylase1 test
Deficiency of phosphoserine phosphatase1 test
Deficiency of pyrroline-5-carboxylate reductase6 tests
Deficiency of steroid 11-beta-monooxygenase4 tests
Deficiency of steroid 17-alpha-monooxygenase6 tests
Dejerine-Sottas disease1 test
Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency2 tests
Dent disease type 24 tests
Dermatofibrosis lenticularis disseminata6 tests
Desmoid disease, hereditary6 tests
Deuteranopia1 test
DiGeorge sequence4 tests
Diabetes mellitus type 11 test
Diabetes mellitus, insulin-dependent, 201 test
Diamond-Blackfan anemia7 tests
Diamond-Blackfan anemia 51 test
Diaphyseal dysplasia6 tests
Diarrhea 5, with tufting enteropathy, congenital4 tests
Dihydropteridine reductase deficiency2 tests
Dihydropyrimidine dehydrogenase deficiency5 tests
Dilated cardiomyopathy 1GG6 tests
Dilated cardiomyopathy 1J1 test
Dilated cardiomyopathy 1X1 test
Dilated cardiomyopathy 3B4 tests
Dilated cardiomyopathy with woolly hair and keratoderma1 test
Dimethylglycine dehydrogenase deficiency1 test
Disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency1 test
Disseminated atypical mycobacterial infection1 test
Distal hereditary motor neuronopathy type 51 test
Distal spinal muscular atrophy, X-linked 35 tests
Dominant hereditary optic atrophy5 tests
Dopa-responsive dystonia due to sepiapterin reductase deficiency1 test
Doyne honeycomb retinal dystrophy1 test
Drash syndrome3 tests
Duchenne muscular dystrophy10 tests
Dyskeratosis congenita, autosomal recessive, 54 tests
Dystonia 161 test
Early infantile epileptic encephalopathy 27 tests
Early infantile epileptic encephalopathy 44 tests
Early infantile epileptic encephalopathy 93 tests
Early myoclonic encephalopathy1 test
Ectodermal dysplasia and immunodeficiency 12 tests
Ectodermal dysplasia, anhidrotic, with immunodeficiency, osteopetrosis, and lymphedema2 tests
Ectopia lentis, isolated, autosomal dominant5 tests
Ehlers-Danlos syndrome dermatosparaxis type4 tests
Ehlers-Danlos syndrome progeroid type7 tests
Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form7 tests
Ehlers-Danlos syndrome, classic type10 tests
Ehlers-Danlos syndrome, hydroxylysine-deficient3 tests
Ehlers-Danlos syndrome, procollagen proteinase deficient7 tests
Ehlers-Danlos syndrome, type 35 tests
Ehlers-Danlos syndrome, type 47 tests
Ehlers-Danlos syndrome, type 7A1 test
Ehlers-Danlos syndrome, type 7B1 test
Encephalopathy due to defective mitochondrial and peroxisomal fission 14 tests
Encephalopathy, acute, infection-induced, 4, susceptibility to6 tests
Endometrial carcinoma16 tests
Enhanced s-cone syndrome2 tests
Epidermal nevus1 test
Epidermolysis bullosa simplex Dowling-Meara type1 test
Epidermolysis bullosa simplex with migratory circinate erythema1 test
Epidermolysis bullosa simplex with mottled pigmentation1 test
Epidermolysis bullosa simplex, Koebner type1 test
Epileptic encephalopathy, early infantile, 16 tests
Epiphyseal dysplasia, multiple, with myopia and conductive deafness6 tests
Erythrocyte lactate transporter defect2 tests
Erythrocytosis, familial, 213 tests
Ethylmalonic encephalopathy9 tests
Exercise-induced hyperinsulinism3 tests
Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis1 test
Exudative vitreoretinopathy 14 tests
Exudative vitreoretinopathy 44 tests
Exudative vitreoretinopathy 54 tests
Fabry disease6 tests
Factor V deficiency2 tests
Familial Mediterranean fever1 test
Familial adenomatous polyposis 112 tests
Familial atrial myxoma2 tests
Familial atypical mycobacteriosis, type 1, X-linked2 tests
Familial calcium pyrophosphate deposition1 test
Familial cancer of breast37 tests
Familial colorectal cancer5 tests
Familial dysautonomia10 tests
Familial expansile osteolysis2 tests
Familial exudative vitreoretinopathy, X-linked1 test
Familial hemophagocytic lymphohistiocytosis 22 tests
Familial hypercholesterolemia7 tests
Familial hypertriglyceridemia1 test
Familial hypertrophic cardiomyopathy 17 tests
Familial hypoplastic, glomerulocystic kidney1 test
Familial infantile myasthenia4 tests
Familial isolated deficiency of vitamin E5 tests
Familial medullary thyroid carcinoma4 tests
Familial partial lipodystrophy 31 test
Familial platelet disorder with associated myeloid malignancy4 tests
Familial porphyria cutanea tarda1 test
Familial prostate carcinoma1 test
Fanconi anemia, complementation group C9 tests
Fanconi anemia, complementation group D110 tests
Fanconi anemia, complementation group N8 tests
Fanconi anemia, complementation group O1 test
Fanconi renotubular syndrome 27 tests
Fasting plasma glucose level quantitative trait locus 51 test
Febrile seizures, familial, 44 tests
Fetal hemoglobin quantitative trait locus 12 tests
Fibrosis of extraocular muscles, congenital, 11 test
Fibrosis of extraocular muscles, congenital, 21 test
Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement1 test
Finnish congenital nephrotic syndrome5 tests
Focal dermal hypoplasia3 tests
Follicular lymphoma 12 tests
Fragile X syndrome9 tests
Fragile X tremor/ataxia syndrome3 tests
Frasier syndrome3 tests
Friedreich ataxia 14 tests
Frontotemporal dementia1 test
Fructose-biphosphatase deficiency7 tests
Fukuyama congenital muscular dystrophy4 tests
Fumarase deficiency3 tests
GLUT1 deficiency syndrome 13 tests
GLUT1 deficiency syndrome 23 tests
GM1 gangliosidosis type 23 tests
GM1 gangliosidosis type 33 tests
GNE myopathy10 tests
GRACILE syndrome7 tests
Galactosylceramide beta-galactosidase deficiency7 tests
Gamma-aminobutyric acid transaminase deficiency1 test
Gastric lymphoma2 tests
Gastrointestinal stromal tumor5 tests
Gaucher disease, atypical, due to saposin C deficiency1 test
Gaucher disease, perinatal lethal6 tests
Gaucher's disease, type 19 tests
Geleophysic dysplasia 25 tests
Gingival fibromatosis 13 tests
Glaucoma 1, open angle, A4 tests
Glaucoma 3, primary congenital, A7 tests
Glaucoma, normal tension, susceptibility to5 tests
Glioma susceptibility 114 tests
Glioma susceptibility 27 tests
Glioma susceptibility 310 tests
Glucose-6-phosphate transport defect9 tests
Glutaric aciduria, type 111 tests
Glutaryl-CoA oxidase deficiency6 tests
Glutathione peroxidase deficiency1 test
Glycine N-methyltransferase deficiency3 tests
Glycogen storage disease 0, muscle6 tests
Glycogen storage disease IIIa3 tests
Glycogen storage disease IIIb3 tests
Glycogen storage disease IXb6 tests
Glycogen storage disease IXc6 tests
Glycogen storage disease IXd6 tests
Glycogen storage disease XI4 tests
Glycogen storage disease XV3 tests
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA11 tests
Glycogen storage disease due to hepatic glycogen synthase deficiency7 tests
Glycogen storage disease due to muscle beta-enolase deficiency6 tests
Glycogen storage disease type III6 tests
Glycogen storage disease type IXa16 tests
Glycogen storage disease type X6 tests
Glycogen storage disease, type II9 tests
Glycogen storage disease, type IV6 tests
Glycogen storage disease, type V6 tests
Glycogen storage disease, type VI6 tests
Glycogen storage disease, type VII6 tests
Gorlin syndrome6 tests
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative1 test
Grn-related frontotemporal lobar degeneration with Tdp43 inclusions1 test
Groenouw corneal dystrophy type I1 test
HNSHA due to aldolase A deficiency1 test
HSD10 disease6 tests
Hawkinsinuria4 tests
Hb SS disease8 tests
Heimler syndrome 21 test
Heinz body anemia2 tests
Hematologic neoplasm1 test
Hemochromatosis type 14 tests
Hemochromatosis type 2A3 tests
Hemochromatosis type 2B3 tests
Hemochromatosis type 33 tests
Hemochromatosis type 43 tests
Hemolytic anemia due to hexokinase deficiency1 test
Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency1 test
Hepatic adenomas, familial1 test
Hepatic methionine adenosyltransferase deficiency1 test
Hepatocellular carcinoma19 tests
Hereditary coproporphyria1 test
Hereditary diffuse gastric cancer8 tests
Hereditary disease172 tests
Hereditary fructosuria10 tests
Hereditary hemorrhagic telangiectasia2 tests
Hereditary hemorrhagic telangiectasia type 13 tests
Hereditary leiomyomatosis and renal cell cancer5 tests
Hereditary liability to pressure palsies1 test
Hereditary mixed polyposis syndrome 24 tests
Hereditary motor and sensory neuropathy with optic atrophy2 tests
Hereditary nonpolyposis colorectal cancer type 46 tests
Hereditary nonpolyposis colorectal cancer type 56 tests
Hereditary nonpolyposis colorectal cancer type 85 tests
Hereditary pancreatitis6 tests
Hereditary sensory and autonomic neuropathy type IC1 test
Hereditary spastic paraplegia 131 test
Hereditary spastic paraplegia 25 tests
Hereditary spastic paraplegia 74 tests
Hereditary xanthinuria type 13 tests
Hermansky-Pudlak syndrome 14 tests
Hermansky-Pudlak syndrome 21 test
Hermansky-Pudlak syndrome 37 tests
Hermansky-Pudlak syndrome 44 tests
Hermansky-Pudlak syndrome 54 tests
Hermansky-Pudlak syndrome 64 tests
Hermansky-Pudlak syndrome 74 tests
Hermansky-Pudlak syndrome 84 tests
Herpes simplex encephalitis 21 test
Hidrotic ectodermal dysplasia syndrome1 test
Hirschsprung disease 14 tests
Holocarboxylase synthetase deficiency8 tests
Holoprosencephaly 31 test
Holoprosencephaly 73 tests
Homocystinuria due to methylene tetrahydrofolate reductase deficiency8 tests
Homocystinuria, cblD type, variant 14 tests
Homocystinuria-Megaloblastic anemia due to defect in cobalamin metabolism, cblE complementation type8 tests
Huntington disease2 tests
Hurler syndrome6 tests
Hurthle cell carcinoma of thyroid5 tests
Hydroxyacyl glutathione hydrolase deficiency1 test
Hyper-IgE recurrent infection syndrome 1, autosomal dominant1 test
Hyper-IgM syndrome type 51 test
Hyperaldosteronism, familial, type I4 tests
Hyperammonemia, type III7 tests
Hypercalcemia, infantile, 11 test
Hypercoagulability4 tests
Hyperinsulinemic hypoglycemia, familial, 14 tests
Hyperinsulinemic hypoglycemia, familial, 41 test
Hyperinsulinism due to glucokinase deficiency1 test
Hyperinsulinism-hyperammonemia syndrome4 tests
Hyperlysinemia1 test
Hypermethioninemia with s-adenosylhomocysteine hydrolase deficiency3 tests
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome10 tests
Hyperparathyroidism 13 tests
Hyperparathyroidism 24 tests
Hyperphosphatasemia tarda1 test
Hyperphosphatasemia with bone disease2 tests
Hyperthyroidism, familial gestational2 tests
Hyperthyroidism, nonautoimmune2 tests
Hypertriglyceridemia, transient infantile1 test
Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis1 test
Hypochondroplasia2 tests
Hypogonadotropic hypogonadism 5 with or without anosmia6 tests
Hypogonadotropic hypogonadism 7 with or without anosmia6 tests
Hypomyelination, global cerebral1 test
Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration1 test
Hypospadias 1, X-linked4 tests
Hypothyroidism, congenital, nongoitrous, 12 tests
Hystrix-like ichthyosis with deafness5 tests
Ichthyosis, spastic quadriplegia, and mental retardation1 test
Idiopathic generalized epilepsy1 test
Idiopathic hypereosinophilic syndrome1 test
Idiopathic nephrotic syndrome5 tests
Imerslund-Gräsbeck syndrome1 test
Iminoglycinuria1 test
Immunodeficiency 181 test
Immunodeficiency 233 tests
Immunodeficiency 31C1 test
Immunodeficiency without anhidrotic ectodermal dysplasia2 tests
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 11 test
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 23 tests
Incontinentia pigmenti syndrome5 tests
Increased analgesia from kappa-opioid receptor agonist, female-specific1 test
Infantile GM1 gangliosidosis3 tests
Infantile Refsum's disease1 test
Infantile cerebellar-retinal degeneration1 test
Infantile cortical hyperostosis3 tests
Infantile hypophosphatasia7 tests
Infantile nephronophthisis3 tests
Infantile neuroaxonal dystrophy2 tests
Infantile nystagmus, X-linked1 test
Infantile onset spinocerebellar ataxia8 tests
Insulin-resistant diabetes mellitus AND acanthosis nigricans2 tests
Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies2 tests
Intrinsic factor deficiency6 tests
Iodotyrosine deiodination defect3 tests
Irido-corneo-trabecular dysgenesis1 test
Ischemic stroke8 tests
Isolated sulfite oxidase deficiency2 tests
Isovaleryl-CoA dehydrogenase deficiency11 tests
Jackson-Weiss syndrome1 test
Joubert syndrome1 test
Joubert syndrome 27 tests
Joubert syndrome 42 tests
Joubert syndrome 56 tests
Joubert syndrome 61 test
Joubert syndrome 91 test
Joubert syndrome with hepatic defect3 tests
Junctional epidermolysis bullosa gravis of Herlitz4 tests
Junctional epidermolysis bullosa, non-Herlitz type7 tests
Juvenile myelomonocytic leukemia6 tests
Juvenile nephropathic cystinosis3 tests
Juvenile polyposis syndrome9 tests
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome5 tests
Juvenile retinoschisis4 tests
Kahrizi syndrome4 tests
Kennedy disease4 tests
Keratitis-ichthyosis-deafness syndrome, autosomal dominant5 tests
Keratoconus 14 tests
Keratosis palmoplantaris striata II1 test
Kniest dysplasia6 tests
Knuckle pads, deafness AND leukonychia syndrome5 tests
Kostmann syndrome1 test
Krabbe disease, atypical, due to saposin A deficiency1 test
Kugelberg-Welander disease1 test
L-2-hydroxyglutaric aciduria1 test
LEOPARD syndrome 16 tests
LEOPARD syndrome 25 tests
LEOPARD syndrome 33 tests
Lactate dehydrogenase B deficiency1 test
Langer-Giedion syndrome1 test
Langereis blood group1 test
Late-onset retinal degeneration1 test
Lattice corneal dystrophy Type I1 test
Leber congenital amaurosis 16 tests
Leber congenital amaurosis 106 tests
Leber congenital amaurosis 117 tests
Leber congenital amaurosis 122 tests
Leber congenital amaurosis 137 tests
Leber congenital amaurosis 147 tests
Leber congenital amaurosis 151 test
Leber congenital amaurosis 162 tests
Leber congenital amaurosis 27 tests
Leber congenital amaurosis 32 tests
Leber congenital amaurosis 42 tests
Leber congenital amaurosis 57 tests
Leber congenital amaurosis 66 tests
Leber congenital amaurosis 76 tests
Leber congenital amaurosis 86 tests
Leber congenital amaurosis 91 test
Leigh syndrome49 tests
Leprechaunism syndrome1 test
Leptin deficiency or dysfunction2 tests
Leptin receptor deficiency2 tests
Lesch-Nyhan syndrome6 tests
Lethal acantholytic epidermolysis bullosa1 test
Lethal osteosclerotic bone dysplasia6 tests
Leukemia, acute lymphoblastic, susceptibility to, 35 tests
Leukemia, chronic lymphocytic 11 test
Leukocyte adhesion deficiency type II5 tests
Leukodystrophy, hypomyelinating, 23 tests
Leukodystrophy, hypomyelinating, 41 test
Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome6 tests
Leukoencephalopathy with dystonia and motor neuropathy4 tests
Leukoencephalopathy with vanishing white matter6 tests
Levy-Hollister syndrome1 test
Lewy body dementia1 test
Li-Fraumeni syndrome 117 tests
Li-Fraumeni syndrome 23 tests
Limb-girdle muscular dystrophy, type 2A3 tests
Limb-girdle muscular dystrophy-dystroglycanopathy, type C44 tests
Linear skin defects with multiple congenital anomalies 11 test
Lipodystrophy, congenital generalized, type 41 test
Lissencephaly 2, X-linked6 tests
Lissencephaly 31 test
Localized epidermolysis bullosa simplex1 test
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency15 tests
Low phospholipid associated cholelithiasis5 tests
Lowe syndrome5 tests
Lung carcinoma12 tests
Lung oat cell carcinoma1 test
Lymphatic malformation 33 tests
Lymphedema, primary, with myelodysplasia4 tests
Lynch syndrome I25 tests
Lynch syndrome II6 tests
Lysinuric protein intolerance6 tests
Lysosomal acid lipase deficiency4 tests
MASS syndrome5 tests
MORM syndrome1 test
MPDU1-CDG5 tests
MPI-CDG10 tests
MYH-associated polyposis7 tests
Macrocephaly/autism syndrome13 tests
Macular degeneration, X-linked atrophic4 tests
Macular dystrophy, patterned, 15 tests
Macular dystrophy, vitelliform, adult-onset9 tests
Malignant tumor of esophagus2 tests
Malignant tumor of prostate18 tests
Malignant tumor of testis7 tests
Maple syrup urine disease12 tests
Maple syrup urine disease type 1A4 tests
Maple syrup urine disease type 1B4 tests
Maple syrup urine disease type 24 tests
Maple syrup urine disease, type 39 tests
Marfan syndrome7 tests
Mastocytosis1 test
Maturity-onset diabetes of the young type 61 test
Maturity-onset diabetes of the young, type 21 test
Maturity-onset diabetes of the young, type 31 test
McKusick-Kaufman syndrome3 tests
Meacham syndrome3 tests
Meckel syndrome type 13 tests
Meckel syndrome type 61 test
Meckel syndrome type 71 test
Meckel syndrome, type 31 test
Meckel syndrome, type 46 tests
Medium-chain acyl-coenzyme A dehydrogenase deficiency12 tests
Medulloblastoma14 tests
Meesmann corneal dystrophy 11 test
Megalencephalic leukoencephalopathy with subcortical cysts 15 tests
Melanoma and neural system tumor syndrome4 tests
Melanoma-pancreatic cancer syndrome6 tests
Melorheostosis5 tests
Meningioma, familial9 tests
Menkes kinky-hair syndrome6 tests
Mental retardation 17, X-linked6 tests
Mental retardation 3, X-linked3 tests
Mental retardation 63, X-linked1 test
Mental retardation, X-linked, syndromic 106 tests
Mental retardation, X-linked, syndromic 137 tests
Mental retardation, autosomal dominant 51 test
Mental retardation, autosomal recessive 75 tests
Mental retardation, with or without seizures, ARX-related, X-linked6 tests
Meretoja syndrome1 test
Mesothelioma, malignant3 tests
Metachondromatosis5 tests
Metachromatic leukodystrophy6 tests
Metaphyseal chondrodysplasia, McKusick type5 tests
Metaphyseal chondrodysplasia, Schmid type3 tests
Metaphyseal dysplasia without hypotrichosis3 tests
Methemoglobinemia type 41 test
Methylcobalamin deficiency type cblG8 tests
Methylmalonate semialdehyde dehydrogenase deficiency1 test
Methylmalonic acidemia with homocystinuria cblD9 tests
Methylmalonic aciduria and homocystinuria type cblF9 tests
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency15 tests
Methylmalonic aciduria due to transcobalamin receptor defect5 tests
Methylmalonic aciduria, cblD type, variant 24 tests
Methylmalonyl-CoA epimerase deficiency6 tests
Microcephalic osteodysplastic dysplasia, Saul-Wilson type2 tests
Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation3 tests
Microcephaly, normal intelligence and immunodeficiency10 tests
Microphthalmia, isolated 31 test
Microphthalmia, isolated 56 tests
Microphthalmia, isolated, with coloboma 51 test
Microphthalmia, isolated, with coloboma 71 test
Microvascular complications of diabetes 61 test
Microvascular complications of diabetes 71 test
Miller syndrome1 test
Mitochondrial DNA depletion syndrome 1 (MNGIE type)8 tests
Mitochondrial DNA depletion syndrome 112 tests
Mitochondrial DNA depletion syndrome 12a (cardiomyopathic type), autosomal dominant1 test
Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)3 tests
Mitochondrial DNA depletion syndrome 27 tests
Mitochondrial DNA depletion syndrome 4B, MNGIE type9 tests
Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)7 tests
Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria)11 tests
Mitochondrial DNA depletion syndrome, encephalomyopathic form, with renal tubulopathy8 tests
Mitochondrial DNA-depletion syndrome 3, hepatocerebral7 tests
Mitochondrial complex 1 deficiency, nuclear type 101 test
Mitochondrial complex 1 deficiency, nuclear type 111 test
Mitochondrial complex 1 deficiency, nuclear type 121 test
Mitochondrial complex 1 deficiency, nuclear type 141 test
Mitochondrial complex 1 deficiency, nuclear type 181 test
Mitochondrial complex 1 deficiency, nuclear type 191 test
Mitochondrial complex 1 deficiency, nuclear type 21 test
Mitochondrial complex 1 deficiency, nuclear type 211 test
Mitochondrial complex 1 deficiency, nuclear type 271 test
Mitochondrial complex 1 deficiency, nuclear type 323 tests
Mitochondrial complex 1 deficiency, nuclear type 41 test
Mitochondrial complex 1 deficiency, nuclear type 51 test
Mitochondrial complex 1 deficiency, nuclear type 73 tests
Mitochondrial complex 1 deficiency, nuclear type 82 tests
Mitochondrial complex 1 deficiency, nuclear type 92 tests
Mitochondrial complex 5 (ATP synthase) deficiency nuclear type 51 test
Mitochondrial complex I deficiency43 tests
Mitochondrial complex I deficiency, nuclear type 12 tests
Mitochondrial complex II deficiency12 tests
Mitochondrial complex III deficiency, nuclear type 19 tests
Mitochondrial complex III deficiency, nuclear type 21 test
Mitochondrial complex III deficiency, nuclear type 53 tests
Mitochondrial complex IV deficiency16 tests
Mitochondrial diseases2 tests
Mitochondrial phosphate carrier deficiency1 test
Mitochondrial trifunctional protein deficiency17 tests
Molybdenum cofactor deficiency, complementation group A1 test
Molybdenum cofactor deficiency, complementation group B5 tests
Mucolipidosis type II3 tests
Mucolipidosis type IV9 tests
Mucopolysaccharidosis type 71 test
Mucopolysaccharidosis, MPS-I-H/S5 tests
Mucopolysaccharidosis, MPS-I-S5 tests
Mucopolysaccharidosis, MPS-II9 tests
Mucopolysaccharidosis, MPS-III-A6 tests
Mucopolysaccharidosis, MPS-III-B1 test
Mucopolysaccharidosis, MPS-III-C1 test
Mucopolysaccharidosis, MPS-III-D1 test
Mucopolysaccharidosis, MPS-IV-A4 tests
Mucopolysaccharidosis, MPS-IV-B1 test
Muenke syndrome2 tests
Muir-Torré syndrome6 tests
Multiple acyl-CoA dehydrogenase deficiency22 tests
Multiple endocrine neoplasia, type 17 tests
Multiple endocrine neoplasia, type 2a7 tests
Multiple endocrine neoplasia, type 2b4 tests
Multiple fibrofolliculomas5 tests
Multiple mitochondrial dysfunctions syndrome 11 test
Multiple mitochondrial dysfunctions syndrome 21 test
Multiple myeloma3 tests
Multiple sulfatase deficiency4 tests
Muscle eye brain disease3 tests
Mutilating keratoderma5 tests
Myasthenia, limb-girdle, familial3 tests
Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency3 tests
Myasthenic syndrome, congenital, 4a, slow-channel3 tests
Myasthenic syndrome, congenital, 4b, fast-channel2 tests
Mycobacterial and viral infections, susceptibility to, autosomal recessive1 test
Myelodysplastic syndrome6 tests
Myhre syndrome4 tests
Myoglobinuria, acute recurrent, autosomal recessive7 tests
Myopathy with lactic acidosis, hereditary6 tests
Myopathy, lactic acidosis, and sideroblastic anemia 16 tests
Myopathy, lactic acidosis, and sideroblastic anemia 26 tests
Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay4 tests
Nail-patella syndrome7 tests
Namaqualand hip dysplasia6 tests
Nance-Horan syndrome1 test
Nanophthalmos 25 tests
Nasopharyngeal carcinoma17 tests
Navajo neurohepatopathy6 tests
Nemaline myopathy 24 tests
Neonatal intrahepatic cholestasis caused by citrin deficiency8 tests
Neoplasm of ovary4 tests
Neoplasm of stomach9 tests
Nephrolithiasis/osteoporosis, hypophosphatemic, 16 tests
Nephrolithiasis/osteoporosis, hypophosphatemic, 22 tests
Nephronophthisis 15 tests
Nephronophthisis 112 tests
Nephronophthisis 34 tests
Nephronophthisis 44 tests
Nephronophthisis-like nephropathy 11 test
Nephropathic cystinosis6 tests
Nephrotic syndrome, type 43 tests
Neural tube defects, folate-sensitive13 tests
Neuroblastoma1 test
Neuroblastoma 25 tests
Neuroblastoma 37 tests
Neurofibromatosis, type 11 test
Neurofibromatosis, type 26 tests
Neuronal ceroid lipofuscinosis 15 tests
Neuronal ceroid lipofuscinosis 101 test
Neuronal ceroid lipofuscinosis 36 tests
Neuronal ceroid lipofuscinosis 55 tests
Neuronal ceroid lipofuscinosis 65 tests
Neuronal ceroid lipofuscinosis 83 tests
Neurophysiologic defect in schizophrenia5 tests
Neutral 1 amino acid transport defect1 test
Neutral lipid storage myopathy1 test
Newfoundland rod-cone dystrophy5 tests
Niemann-Pick disease type C16 tests
Niemann-Pick disease, type A10 tests
Niemann-Pick disease, type B1 test
Niemann-Pick disease, type C23 tests
Nijmegen breakage syndrome-like disorder5 tests
Non-Hodgkin lymphoma5 tests
Non-ketotic hyperglycinemia10 tests
Noonan syndrome 17 tests
Noonan syndrome 31 test
Noonan syndrome 44 tests
Noonan syndrome 55 tests
Noonan syndrome 64 tests
Noonan syndrome 73 tests
Noonan syndrome 84 tests
Noonan syndrome 91 test
Noonan syndrome-like disorder with loose anagen hair4 tests
Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia5 tests
Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 15 tests
Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 26 tests
Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 36 tests
Nystagmus 6, congenital, X-linked7 tests
Obesity3 tests
Obsessive-compulsive disorder2 tests
Occult macular dystrophy1 test
Ocular albinism, type I6 tests
Ocular albinism, type II1 test
Ocular cystinosis3 tests
Oculocutaneous albinism type 14 tests
Oculocutaneous albinism type 1B4 tests
Oculocutaneous albinism type 34 tests
Oculocutaneous albinism type 44 tests
Oculofaciocardiodental syndrome1 test
Odontohypophosphatasia4 tests
Oguchi disease 21 test
Oguchi's disease5 tests
Opioid dependence 11 test
Optic atrophy 37 tests
Optic atrophy 71 test
Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy6 tests
Optic nerve hypoplasia, bilateral1 test
Ornithine aminotransferase deficiency4 tests
Ornithine carbamoyltransferase deficiency8 tests
Orthostatic hypotension 11 test
Osteofibrous dysplasia2 tests
Osteogenesis imperfecta type 122 tests
Osteogenesis imperfecta type 2, thin-bone1 test
Osteogenesis imperfecta type 54 tests
Osteogenesis imperfecta type 78 tests
Osteogenesis imperfecta type 82 tests
Osteogenesis imperfecta type 92 tests
Osteogenesis imperfecta type I7 tests
Osteogenesis imperfecta type III6 tests
Osteogenesis imperfecta with normal sclerae, dominant form6 tests
Osteogenesis imperfecta, recessive perinatal lethal6 tests
Osteogenesis imperfecta, type III/IV1 test
Osteogenesis imperfecta, type VI2 tests
Osteogenesis imperfecta, type XI6 tests
Osteopathia striata with cranial sclerosis6 tests
Osteopetrosis with renal tubular acidosis6 tests
Osteopetrosis, autosomal recessive 51 test
Osteoporosis with pseudoglioma1 test
Osteosarcoma18 tests
Otofaciocervical syndrome 11 test
Otospondylomegaepiphyseal dysplasia, autosomal recessive6 tests
Oxoglutaricaciduria1 test
Paget disease of bone 2, early-onset2 tests
Palmoplantar keratoderma-deafness syndrome5 tests
Pancreatic cancer 210 tests
Pancreatic cancer 38 tests
Pancreatic cancer 49 tests
Panic disorder 11 test
Papillary thyroid carcinoma1 test
Paragangliomas 14 tests
Paragangliomas 25 tests
Paragangliomas 37 tests
Paragangliomas 48 tests
Paragangliomas 57 tests
Parathyroid carcinoma2 tests
Parkinson disease 131 test
Parkinson disease 6, autosomal recessive early-onset1 test
Parkinson disease 71 test
Paroxysmal non-kinesigenic dyskinesia1 test
Partial androgen insensitivity syndrome4 tests
Partial hypoxanthine-guanine phosphoribosyltransferase deficiency4 tests
Partington syndrome6 tests
Pelizaeus-Merzbacher disease6 tests
Pendred syndrome6 tests
Permanent neonatal diabetes mellitus1 test
Peroxisomal acyl-CoA oxidase deficiency4 tests
Peroxisome biogenesis disorder 10A3 tests
Peroxisome biogenesis disorder 11A5 tests
Peroxisome biogenesis disorder 12A3 tests
Peroxisome biogenesis disorder 13A1 test
Peroxisome biogenesis disorder 14B3 tests
Peroxisome biogenesis disorder 1A (Zellweger)5 tests
Peroxisome biogenesis disorder 2A (Zellweger)3 tests
Peroxisome biogenesis disorder 3A2 tests
Peroxisome biogenesis disorder 4a (zellweger)2 tests
Peroxisome biogenesis disorder 5B2 tests
Peroxisome biogenesis disorder 5a (zellweger)5 tests
Peroxisome biogenesis disorder 6A3 tests
Peroxisome biogenesis disorder 7A3 tests
Peroxisome biogenesis disorder 8A1 test
Peroxisome biogenesis disorder 8B2 tests
Peroxisome biogenesis disorder 9B4 tests
Perrault syndrome 11 test
Perrault syndrome 25 tests
Persistent fetal circulation syndrome8 tests
Peutz-Jeghers syndrome9 tests
Pfeiffer syndrome1 test
Phenylketonuria11 tests
Pheochromocytoma22 tests
Phosphate transport defect5 tests
Phosphoenolpyruvate carboxykinase deficiency, cytosolic3 tests
Phosphoenolpyruvate carboxykinase deficiency, mitochondrial4 tests
Phosphoglycerate dehydrogenase deficiency5 tests
Phytanic acid storage disease4 tests
Pick's disease1 test
Pigmentary pallidal degeneration1 test
Pigmentary retinal dystrophy9 tests
Pigmented nodular adrenocortical disease, primary, 12 tests
Pigmented paravenous chorioretinal atrophy6 tests
Pili torti-deafness syndrome5 tests
Pilomatrixoma7 tests
Pituitary hormone deficiency, combined 25 tests
Pituitary hormone deficiency, combined 62 tests
Platyspondylic dysplasia, Torrance type6 tests
Pneumothorax, primary spontaneous2 tests
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 11 test
Polyglandular autoimmune syndrome, type 13 tests
Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract6 tests
Pontocerebellar hypoplasia type 66 tests
Posterior column ataxia-retinitis pigmentosa syndrome1 test
Posterior polymorphous corneal dystrophy 11 test
Posterior polymorphous corneal dystrophy 31 test
Postmenopausal osteoporosis8 tests
Prader-Willi syndrome1 test
Pregnancy loss, recurrent, susceptibility to, 22 tests
Premature ovarian failure 13 tests
Premature ovarian failure 31 test
Primary hyperoxaluria, type I6 tests
Primary hyperoxaluria, type II5 tests
Primary open angle glaucoma2 tests
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 110 tests
Progressive familial intrahepatic cholestasis5 tests
Progressive familial intrahepatic cholestasis 25 tests
Progressive familial intrahepatic cholestasis 36 tests
Progressive sclerosing poliodystrophy10 tests
Proline dehydrogenase deficiency1 test
Proopiomelanocortin deficiency2 tests
Propionic acidemia21 tests
Proprotein convertase 1/3 deficiency2 tests
Protan defect1 test
Prothrombin deficiency, congenital2 tests
Protoporphyria, erythropoietic, 11 test
Protoporphyria, erythropoietic, X-linked1 test
Pseudo-Hurler polydystrophy1 test
Purine-nucleoside phosphorylase deficiency4 tests
Pyknodysostosis9 tests
Pyridoxine-dependent epilepsy5 tests
Pyruvate carboxylase deficiency11 tests
Pyruvate dehydrogenase E1-alpha deficiency5 tests
Pyruvate dehydrogenase E1-beta deficiency6 tests
Pyruvate dehydrogenase E2 deficiency7 tests
Pyruvate dehydrogenase E3-binding protein deficiency6 tests
Pyruvate dehydrogenase complex deficiency6 tests
Pyruvate dehydrogenase lipoic acid synthetase deficiency1 test
Pyruvate dehydrogenase phosphatase deficiency7 tests
RAS-associated autoimmune leukoproliferative disorder3 tests
Recurrent abortion2 tests
Reis-Bucklers' corneal dystrophy1 test
Renal carnitine transport defect10 tests
Renal cell carcinoma, nonpapillary13 tests
Renal cell carcinoma, papillary, 15 tests
Renal coloboma syndrome1 test
Renal dysplasia and retinal aplasia1 test
Renal-hepatic-pancreatic dysplasia 11 test
Reticular dysgenesis1 test
Reticulate acropigmentation of Kitamura1 test
Retinal cone dystrophy 41 test
Retinal degeneration, autosomal recessive, clumped pigment type4 tests
Retinitis pigmentosa2 tests
Retinitis pigmentosa 11 test
Retinitis pigmentosa 106 tests
Retinitis pigmentosa 116 tests
Retinitis pigmentosa 127 tests
Retinitis pigmentosa 131 test
Retinitis pigmentosa 142 tests
Retinitis pigmentosa 155 tests
Retinitis pigmentosa 176 tests
Retinitis pigmentosa 197 tests
Retinitis pigmentosa 26 tests
Retinitis pigmentosa 205 tests
Retinitis pigmentosa 256 tests
Retinitis pigmentosa 261 test
Retinitis pigmentosa 275 tests
Retinitis pigmentosa 286 tests
Retinitis pigmentosa 306 tests
Retinitis pigmentosa 316 tests
Retinitis pigmentosa 331 test
Retinitis pigmentosa 361 test
Retinitis pigmentosa 373 tests
Retinitis pigmentosa 386 tests
Retinitis pigmentosa 394 tests
Retinitis pigmentosa 41 test
Retinitis pigmentosa 406 tests
Retinitis pigmentosa 415 tests
Retinitis pigmentosa 421 test
Retinitis pigmentosa 431 test
Retinitis pigmentosa 446 tests
Retinitis pigmentosa 456 tests
Retinitis pigmentosa 461 test
Retinitis pigmentosa 476 tests
Retinitis pigmentosa 485 tests
Retinitis pigmentosa 491 test
Retinitis pigmentosa 505 tests
Retinitis pigmentosa 511 test
Retinitis pigmentosa 546 tests
Retinitis pigmentosa 551 test
Retinitis pigmentosa 566 tests
Retinitis pigmentosa 571 test
Retinitis pigmentosa 581 test
Retinitis pigmentosa 5910 tests
Retinitis pigmentosa 601 test
Retinitis pigmentosa 614 tests
Retinitis pigmentosa 76 tests
Retinitis pigmentosa 7, digenic4 tests
Retinitis pigmentosa 91 test
Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness4 tests
Retinitis punctata albescens4 tests
Retinoblastoma1 test
Rett syndrome8 tests
Rett syndrome, congenital variant3 tests
Rheumatoid arthritis1 test
Rhizomelic chondrodysplasia punctata type 12 tests
Rhizomelic chondrodysplasia punctata type 23 tests
Rhizomelic chondrodysplasia punctata type 34 tests
Ring dermoid of cornea1 test
Rothmund-Thomson syndrome3 tests
Roussy-Lévy syndrome1 test
Rubinstein-Taybi syndrome6 tests
SCHIZENCEPHALY1 test
SLC35A2-CDG3 tests
Saccharopinuria1 test
Salla disease5 tests
Sandhoff disease5 tests
Sarcosine dehydrogenase deficiency1 test
Sarcotubular myopathy1 test
Schaaf-Yang syndrome3 tests
Schizophrenia3 tests
Schizophrenia 41 test
Schwannomatosis 13 tests
Sclerosteosis 11 test
Scoliosis, idiopathic 36 tests
Sengers syndrome1 test
Senior-Loken syndrome 41 test
Senior-Loken syndrome 57 tests
Senior-Loken syndrome 66 tests
Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome9 tests
Septo-optic dysplasia sequence1 test
Severe autosomal recessive muscular dystrophy of childhood - North African type3 tests
Severe combined immunodeficiency due to ADA deficiency8 tests
Severe combined immunodeficiency due to DCLRE1C deficiency6 tests
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive6 tests
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative3 tests
Severe neonatal-onset encephalopathy with microcephaly7 tests
Sex-linked hereditary disorder1 test
Shaheen syndrome2 tests
Shprintzen syndrome2 tests
Shprintzen-Goldberg syndrome5 tests
Shwachman-Diamond syndrome 15 tests
Sialuria2 tests
Simpson-Golabi-Behmel syndrome type 15 tests
Sjögren-Larsson syndrome6 tests
Skin fragility-woolly hair-palmoplantar keratoderma syndrome1 test
Skin/hair/eye pigmentation, variation in, 16 tests
Skin/hair/eye pigmentation, variation in, 114 tests
Skin/hair/eye pigmentation, variation in, 21 test
Skin/hair/eye pigmentation, variation in, 34 tests
Skin/hair/eye pigmentation, variation in, 54 tests
Smith-Lemli-Opitz syndrome8 tests
Smith-Magenis syndrome3 tests
Snowflake vitreoretinal degeneration2 tests
Solid tumor2 tests
Solitary median maxillary central incisor syndrome1 test
Sorsby fundus dystrophy1 test
Sotos syndrome 11 test
Spastic ataxia 5, autosomal recessive1 test
Spastic paraplegia 31, autosomal dominant1 test
Spastic paraplegia 44, autosomal recessive3 tests
Spastic paraplegia 55, autosomal recessive1 test
Sphingolipid activator protein 1 deficiency1 test
Spinal muscular atrophy, type II1 test
Spinocerebellar ataxia type 11 test
Spinocerebellar ataxia type 101 test
Spinocerebellar ataxia type 146 tests
Spinocerebellar ataxia type 281 test
Spondylocheirodysplasia, Ehlers-Danlos syndrome-like7 tests
Spondyloepiphyseal dysplasia congenita6 tests
Spondylometaphyseal dysplasia1 test
Spondyloperipheral dysplasia-short ulna syndrome1 test
Spongy degeneration of central nervous system9 tests
Squamous cell carcinoma of the head and neck13 tests
Stargardt Disease 31 test
Stargardt disease 17 tests
Stargardt disease 45 tests
Steinert myotonic dystrophy syndrome2 tests
Stickler syndrome type 11 test
Stiff skin syndrome5 tests
Striatal necrosis, bilateral, and progressive polyneuropathy1 test
Subacute neuronopathic Gaucher's disease6 tests
Succinate-semialdehyde dehydrogenase deficiency7 tests
Succinyl-CoA acetoacetate transferase deficiency1 test
Supravalvar aortic stenosis1 test
Sveinsson chorioretinal atrophy1 test
Syndactyly-telecanthus-anogenital and renal malformations syndrome1 test
Syndromic X-linked intellectual disability Lubs type8 tests
Syndromic microphthalmia type 52 tests
Synovial sarcoma1 test
Tay-Sachs disease13 tests
Tay-Sachs disease, variant AB1 test
Tetralogy of Fallot5 tests
Thanatophoric dysplasia type 12 tests
Thanatophoric dysplasia, type 22 tests
Thiel-Behnke corneal dystrophy1 test
Thrombocytopenia 21 test
Thrombocytopenia 41 test
Thrombocytosis, benign familial microcytic3 tests
Thrombophilia due to activated protein C resistance2 tests
Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant6 tests
Thrombophilia, hereditary, due to protein C deficiency, autosomal recessive6 tests
Thyroid hormone metabolism, abnormal1 test
Transcolabamin II deficiency9 tests
Transferrin serum level quantitative trait locus 21 test
Triglyceride storage disease with ichthyosis1 test
Tuberous sclerosis 11 test
Tuberous sclerosis 21 test
Turcot syndrome6 tests
Type 2 diabetes mellitus2 tests
Tyrosinase-positive oculocutaneous albinism6 tests
Tyrosinemia type 35 tests
Tyrosinemia type I13 tests
Tyrosinemia type II7 tests
UDPglucose-4-epimerase deficiency6 tests
Uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to1 test
Urinary bladder cancer5 tests
Usher Syndrome, Type III9 tests
Usher syndrome type 13 tests
Usher syndrome type 1D13 tests
Usher syndrome type 1F7 tests
Usher syndrome, type 1C9 tests
Usher syndrome, type 1G1 test
Usher syndrome, type 2A7 tests
Usher syndrome, type 2C6 tests
Usher syndrome, type 2D5 tests
Usher syndrome, type 3B1 test
VACTERL association with hydrocephalus13 tests
Van Buchem disease type 21 test
Variegate porphyria2 tests
Very long chain acyl-CoA dehydrogenase deficiency15 tests
Vitamin B12-responsive methylmalonic acidemia type cblA11 tests
Vitamin B12-responsive methylmalonic acidemia type cblB11 tests
Vitamin D-dependent rickets, type 11 test
Vitamin D-dependent rickets, type 22 tests
Vitelliform macular dystrophy type 26 tests
Vitreoretinochoroidopathy5 tests
Von Hippel-Lindau syndrome13 tests
Waldenstrom macroglobulinemia1 test
Weill-Marchesani syndrome 25 tests
Werdnig-Hoffmann disease9 tests
Wilms tumor 114 tests
Wilson disease11 tests
Wilson-Turner X-linked mental retardation syndrome1 test
Wiskott-Aldrich syndrome2 tests
Wolfram syndrome1 test
Wolfram syndrome 21 test
Wolfram-like syndrome, autosomal dominant1 test
Worth disease1 test
Wrinkly skin syndrome5 tests
X-linked agammaglobulinemia1 test
X-linked cone-rod dystrophy 31 test
X-linked ichthyosis with steryl-sulfatase deficiency1 test
X-linked severe combined immunodeficiency4 tests
X-linked sideroblastic anemia with ataxia1 test
Zonular pulverulent cataract 31 test
alpha Thalassemia6 tests
beta Thalassemia8 tests
mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency4 tests
not provided9 tests
not provided1 test
not provided1 test
not provided1 test
not provided1 test
not provided2 tests
not provided1 test
not provided1 test
not provided1 test
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