Lupski Lab, Baylor-Hopkins CMG (Baylor College of Medicine), BHCMG

General information

Lupski Lab, Baylor-Hopkins CMG, BHCMG
Baylor College of Medicine
Houston
Texas
United States - 77030
http://www.mendelian.org/
Organization ID: 505572

Personnel

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 980

Gene

GeneSubmissionsLast Updated
AAR21Jun 20, 2016
AARS11Nov 5, 2015
ABCA45Jan 26, 2017
ABCA73Jun 17, 2019
ABCC92Aug 26, 2017
ABHD121Nov 5, 2015
ACO21Jun 20, 2016
ACOT11Jan 26, 2017
ACP61Nov 15, 2015
ACTC12Aug 26, 2017
ACTG210Nov 4, 2015
ACTL6A1Jul 20, 2018
ACTL6B1Mar 29, 2017
ACTN21Aug 26, 2017
ACVR2B2Jun 1, 2018
ADCY61Nov 5, 2015
ADGRG61Jun 17, 2019
ADNP1Jun 17, 2019
AGBL21Mar 29, 2017
AHDC14Nov 15, 2015
AIFM11Nov 5, 2015
AIMP11Nov 5, 2015
AKAP92Aug 26, 2017
AKT31Nov 15, 2015
ALDH7A11Mar 29, 2017
ALG122Nov 15, 2015
AMOT1Nov 15, 2015
ANK23Aug 26, 2017
ANK31Mar 29, 2017
ANKLE22Nov 4, 2015
ANKRD112Oct 13, 2020
ANOS12Jan 11, 2016
ANTXR13Nov 15, 2015
AP4B12Mar 29, 2017
AP4B1-AS12Mar 29, 2017
AP4M11Jun 17, 2019
ARFGEF11Jan 25, 2021
ARHGAP211Mar 29, 2017
ARHGEF10L1Nov 15, 2015
ARID1B5Nov 15, 2015
ARMCX5-GPRASP21Jul 24, 2019
ARSA1Jun 20, 2016
ASH2L1Mar 29, 2017
ASIC4-AS12Jun 17, 2019
ASPM5Sep 1, 2017
ASTN13Sep 1, 2017
ASXL31Mar 29, 2017
ATAD3A5Jan 26, 2017
ATP2B31Jun 20, 2016
ATP6V1A1Nov 15, 2015
ATRIP1Jun 17, 2019
ATRIP-TREX11Jun 17, 2019
ATRX2Mar 29, 2017
BCOR1Mar 29, 2017
BICD21Jun 17, 2019
BMP73Jan 11, 2016
BORCS51Jun 20, 2016
BRWD31Jun 17, 2019
C12orf571Jun 20, 2016
C12orf601Jan 26, 2017
C19orf121Mar 29, 2017
C31Jun 11, 2019
CACNA1A1Jan 26, 2017
CACNA1C2Aug 26, 2017
CACNA1E1Aug 26, 2017
CACNA1H2Mar 29, 2017
CACNA2D21Jun 17, 2019
CACUL11Jun 17, 2019
CASK1Sep 6, 2016
CC2D1A2Sep 6, 2016
CDC5L1Jan 11, 2016
CDH43Sep 1, 2017
CDK102Mar 29, 2017
CDK202Jan 26, 2017
CDON1Mar 29, 2017
CELSR21Mar 29, 2017
CENPJ1Jun 17, 2019
CEP85L1Sep 1, 2017
CEP971Mar 29, 2017
CHD1L3Jan 11, 2016
CHD72Jun 11, 2019
CHRNG4Jun 17, 2019
CINP1Mar 29, 2017
CIT1Jun 17, 2019
CLN61Mar 29, 2017
CLP11Nov 4, 2015
CNTNAP21Nov 15, 2015
COG61Jun 17, 2019
COL12A11Jun 17, 2019
COL27A12Mar 22, 2020
COL6A21Jun 17, 2019
COL6A33Jun 17, 2019
COPA4Nov 4, 2015
CORO1A1Nov 5, 2015
CPLANE11Nov 15, 2015
CPLX11Mar 29, 2017
CRLF11Jun 17, 2019
CRX3Nov 4, 2015
CSPP12Sep 1, 2017
CTSA2Nov 15, 2015
DARS11Mar 29, 2017
DCAF61Nov 15, 2015
DCX1Sep 1, 2017
DDX3X3Jan 26, 2017
DDX545Jun 11, 2019
DES1Nov 15, 2015
DHCR71Mar 29, 2017
DHX164Jun 11, 2019
DHX303Mar 29, 2017
DHX343Jun 11, 2019
DHX379Jun 11, 2019
DHX581Oct 13, 2020
DICER16Nov 15, 2015
DLG41Nov 15, 2015
DNAH51Jun 1, 2018
DNAH71Jan 26, 2017
DNAI11Jun 1, 2018
DNAJB22Nov 5, 2015
DNAJB51Nov 5, 2015
DNM22Nov 4, 2015
DPP62Aug 26, 2017
DRG11Jun 17, 2019
DSCAML11Mar 29, 2017
DSP2Aug 26, 2017
DSTYK6Jan 11, 2016
DVL115Sep 30, 2020
DVL38Sep 30, 2020
DYNC1H11Sep 1, 2017
EBF31Jan 26, 2017
ECEL17Jun 17, 2019
EMC16Jan 26, 2017
EMC1-AS15Jan 26, 2017
EP3001Sep 1, 2017
EPB41L11Mar 29, 2017
ERGIC11Jun 17, 2019
ERGIC31Oct 13, 2020
EYA12Jan 11, 2016
FAM222A1Mar 29, 2017
FAM222A-AS11Mar 29, 2017
FARS21Jun 20, 2016
FAT11Jun 17, 2019
FBN11Nov 15, 2015
FBN21Jun 17, 2019
FBN32Jun 17, 2019
FBXL41Jan 26, 2017
FGD14Sep 30, 2020
FGFRL11Jun 17, 2019
FHL11Jun 17, 2019
FKBP101Jun 17, 2019
FLII1Jun 17, 2019
FLNA2Sep 1, 2017
FLNC2Aug 26, 2017
FLNC-AS11Aug 26, 2017
FNIP12Aug 26, 2017
FOXP41Jun 20, 2016
FREM11Nov 15, 2015
FZD27Sep 30, 2020
GABRB21Nov 15, 2015
GALC2Mar 29, 2017
GALT1Jun 11, 2019
GBE12Jun 17, 2019
GJA51Aug 26, 2017
GJB11Nov 5, 2015
GJD2-DT2Aug 26, 2017
GLDC3Mar 29, 2017
GNB52Jan 26, 2017
GPC41Jun 16, 2017
GPD1L1Aug 26, 2017
GPHN2Nov 15, 2015
GPIHBP12Nov 15, 2015
GPR1012Mar 23, 2016
GPR1611Nov 4, 2015
GRID21Jun 20, 2016
GRIN11Nov 15, 2015
GRIN2A1Oct 13, 2020
GRIN2B1Nov 15, 2015
GRIP12Mar 29, 2017
GRM73Jun 20, 2016
GSPT21Jan 26, 2017
GTF3C11Mar 29, 2017
GUCY2C1Jan 26, 2017
HADH1Mar 29, 2017
HAL3Nov 15, 2015
HDAC81Dec 5, 2014
HEATR41Jan 26, 2017
HELZ1Mar 29, 2017
HERC21Jun 20, 2016
HEXB1Jun 20, 2016
HIBCH1Jun 20, 2016
HIVEP11Jan 26, 2017
HKDC11Apr 27, 2016
HNF1B1Jan 11, 2016
HOXA111Jun 17, 2019
HSD17B41Jun 17, 2019
HYDIN2Jun 1, 2018
IDS1Jun 17, 2019
IGF11Jun 17, 2019
IGFBP41Mar 29, 2017
IGHMBP24Nov 5, 2015
IGSF104Jun 11, 2019
IL17B1Apr 27, 2016
IL7R2Nov 5, 2015
INA1Mar 29, 2017
INPPL11Jul 30, 2018
IQSEC21Mar 29, 2017
ISL11Jun 1, 2018
ITGA71Mar 29, 2017
ITPR11Nov 5, 2015
JAKMIP11Sep 6, 2016
JUP3Aug 26, 2017
KANK11Mar 29, 2017
KAT141Mar 29, 2017
KCND31Jan 26, 2017
KCNH22Aug 26, 2017
KCNJ21Aug 26, 2017
KCNQ13Aug 26, 2017
KCNQ31Nov 15, 2015
KCTD191Nov 15, 2015
KDM2B1Jun 20, 2016
KDM5C1Sep 6, 2016
KIF1A1Sep 18, 2020
KIF231Mar 29, 2017
KIF241Nov 15, 2015
KIF5B1Jun 20, 2016
KLHL151Mar 29, 2017
KLHL74Jun 17, 2019
KMT2A1Dec 5, 2014
KMT2D1Sep 6, 2016
L1CAM1Sep 1, 2017
LAMA22Sep 1, 2017
LAMA42Aug 26, 2017
LAMA52Sep 1, 2017
LAMC11Aug 26, 2017
LARP71Mar 29, 2017
LEMD21Nov 15, 2015
LIFR2Jun 17, 2019
LINC006301Jul 24, 2019
LINGO42Sep 1, 2017
LMNA2Jun 17, 2019
LOC1060501021Jun 17, 2019
LOC1067808031Jan 11, 2016
LOC1071262811Jun 17, 2019
LOC1082811341Mar 29, 2017
LRBA4Nov 15, 2015
LRP614Mar 24, 2016
MAB21L24Nov 15, 2015
MACF12Sep 1, 2017
MAGED21Jun 20, 2016
MAP2K21Sep 6, 2016
MCM83Jun 11, 2019
MCM93Jun 11, 2019
MCPH11Mar 29, 2017
MECP23Sep 6, 2016
MED271Jun 17, 2019
MEF2C1Sep 1, 2017
MET1Nov 15, 2015
MFN28Jun 17, 2019
MHRT1Aug 26, 2017
MICALL21Jan 26, 2017
MID1IP11Jun 17, 2019
MIPEP2Jan 26, 2017
MIR302CHG1Mar 29, 2017
MLC11Jun 20, 2016
MLLT11Jun 20, 2016
MLX1Jun 11, 2019
MMACHC1Nov 4, 2015
MMP212Jun 1, 2018
MND11Jun 11, 2019
MPP41Jan 26, 2017
MPZ3Nov 15, 2015
MRPS222Jun 11, 2019
MTO12Mar 29, 2017
MTRFR1Mar 29, 2017
MUC211Nov 15, 2015
MXRA81Mar 29, 2017
MYBPC11Jun 17, 2019
MYBPC24Jun 17, 2019
MYBPC33Aug 26, 2017
MYH111Aug 26, 2017
MYH143Jun 17, 2019
MYH31Jun 17, 2019
MYH62Aug 26, 2017
MYH74Aug 26, 2017
MYH7B1Jun 17, 2019
MYO18B3Jun 17, 2019
MYO5A1Jun 20, 2016
MYO9A2Jun 17, 2019
MYOM22Jun 17, 2019
MYOM32Jun 17, 2019
NAA101Jan 26, 2017
NALCN2Jan 26, 2017
NDE11Aug 26, 2017
NDRG11Nov 4, 2015
NEB2Jun 17, 2019
NEBL1Aug 26, 2017
NEXMIF1Oct 13, 2020
NGLY12Mar 29, 2017
NHLH14Nov 4, 2015
NIPBL10Dec 5, 2014
NOBOX1Jun 11, 2019
NODAL4Jun 1, 2018
NPAS21Nov 15, 2015
NPAS2-AS11Nov 15, 2015
NR2C11Jun 17, 2019
NR2F19Jan 26, 2017
NRXN32Jan 26, 2017
NSD11Nov 5, 2015
NTNG27Sep 21, 2019
NXN3Sep 8, 2020
ODAD29Nov 15, 2015
OGDHL1Mar 29, 2017
OPA11Mar 29, 2017
PADI61Jun 11, 2019
PAX22Jan 11, 2016
PAX31Nov 15, 2015
PCYOX1L1Apr 27, 2016
PDGFRB2Nov 4, 2015
PGAP12Nov 15, 2015
PGM35Nov 15, 2015
PHF61Jun 20, 2016
PI4KA2Jun 17, 2019
PIEZO21Jun 17, 2019
PIGN1Mar 29, 2017
PIK3CD1Jan 26, 2017
PITX21Aug 26, 2017
PLA2G62Mar 29, 2017
PLCB11Mar 29, 2017
PLEC2Jun 17, 2019
PLEKHG21Mar 29, 2017
PLP12Jul 24, 2019
PLXNA112May 18, 2021
PMP22Jun 14, 2019
PMPCA2Jan 26, 2017
PNPLA71Jun 11, 2019
POGZ6Sep 6, 2016
POLR1C3Jan 26, 2017
POLR3A1Jun 17, 2019
POLR3H1Jun 20, 2016
POMGNT12Jun 17, 2019
POMT21Mar 29, 2017
POR1Jun 17, 2019
PORCN1Jun 20, 2016
PPP1CB1Sep 30, 2020
PQBP11Jun 17, 2019
PRDM164Aug 26, 2017
PRDM21Jun 17, 2019
PRICKLE11Nov 15, 2015
PRKAG21Aug 26, 2017
PRKD11Jun 11, 2019
PROB11Apr 27, 2016
PRUNE14Mar 29, 2017
PSD31Jun 17, 2019
PSMC3IP1Jun 11, 2019
PTCHD11Mar 29, 2017
PTEN1Sep 1, 2017
PTPN111Jun 16, 2017
PTPRT2Mar 29, 2017
PWWP2A1Mar 29, 2017
RAB282Nov 15, 2015
RAB33A1Nov 5, 2015
RAB9B2Jul 24, 2019
RAC31Jun 16, 2017
RAI11Nov 15, 2015
RAI21Jun 1, 2018
RARS21Mar 29, 2017
RBM201Aug 26, 2017
RDH112Nov 15, 2015
RELN2Sep 1, 2017
RERE1Nov 15, 2015
REST3Jun 8, 2017
RET1Jan 11, 2016
RHBDF15Aug 26, 2017
RIF11Jun 17, 2019
RIPK41Jun 17, 2019
RIPPLY21Nov 4, 2015
RNASEH2B1Jun 20, 2016
ROBO23Jan 11, 2016
ROCK21Jun 1, 2018
ROR225Oct 1, 2020
ROS11Mar 29, 2017
RPS6KC12Jun 20, 2016
RSRC21Jun 20, 2016
RUBCN2Jun 20, 2016
RYR27Aug 26, 2017
RYR34Jun 17, 2019
SACS2Mar 29, 2017
SALL12Jan 11, 2016
SARS21Jun 20, 2016
SBDS1Nov 15, 2015
SCN1B1Jan 26, 2017
SCN5A2Aug 26, 2017
SCNN1B1Jun 23, 2016
SDHC1Nov 15, 2015
SETX1Nov 5, 2015
SH3PXD2B1Jul 30, 2018
SH3TC22Nov 5, 2015
SIX21Jan 11, 2016
SIX51Jan 11, 2016
SKP11Apr 27, 2016
SLC13A54Jan 26, 2017
SLC18A21Mar 29, 2017
SLC1A11Nov 15, 2015
SLC1A41Jan 26, 2017
SLC25A161Nov 15, 2015
SLC26A21Jun 17, 2019
SLC26A41Aug 26, 2017
SLC26A4-AS11Aug 26, 2017
SLC30A71Jan 26, 2017
SLC35A21Nov 15, 2015
SLITRK51Mar 29, 2017
SMAD21Jun 1, 2018
SMARCA11Mar 29, 2017
SMC1A3Dec 5, 2014
SMC31Dec 5, 2014
SNAPIN1Mar 29, 2017
SNTA11Aug 26, 2017
SNX141Mar 29, 2017
SOHLH12Nov 4, 2015
SOX31Mar 29, 2017
SOX51Nov 15, 2015
SPAST25Nov 15, 2015
SPATA6L1Nov 15, 2015
SPEG2Jun 17, 2019
SPG111Mar 29, 2017
SPTAN11Mar 29, 2017
SPTBN41Jun 17, 2019
SPTLC31Nov 5, 2015
SRD5A31Apr 13, 2016
STAT39Nov 15, 2015
STIL2Mar 29, 2017
SUPT16H1Jun 1, 2018
SURF12Nov 5, 2015
SVIL1Mar 29, 2017
SYN31Jan 26, 2017
SYNE14Jun 17, 2019
SYT21Jun 17, 2019
SYTL21Apr 23, 2020
TAF62Dec 5, 2014
TAF9B1Jun 17, 2019
TANC11Jun 17, 2019
TBC1D248Nov 15, 2015
TBX51Aug 26, 2017
TBX66Nov 15, 2015
TCAP1Aug 26, 2017
TCF41Feb 1, 2017
TFG1Nov 5, 2015
TG1Jun 11, 2019
TGFB31Jun 17, 2019
TGFBR21Aug 26, 2017
TM4SF201Nov 15, 2015
TMCO11Nov 4, 2015
TMEM2141Jun 17, 2019
TMEM471Jun 20, 2016
TNK24Mar 23, 2016
TNNT21Aug 26, 2017
TNNT31Jun 17, 2019
TNR5Mar 23, 2016
TNRC6C1Jun 17, 2019
TNXB2Jan 11, 2016
TOR1A1Jun 17, 2019
TPM22Jun 17, 2019
TRAPPC111Jan 26, 2017
TRAPPC41May 20, 2020
TREX11Jun 17, 2019
TRIM21Nov 5, 2015
TRPM41Aug 26, 2017
TRPV41Jun 17, 2019
TSC11Sep 1, 2017
TSPAN12Jun 17, 2019
TTC11Mar 29, 2017
TTC39A2Aug 26, 2017
TTI11Mar 29, 2017
TTN4Jun 17, 2019
TTN-AS13Jun 17, 2019
TUBA1A1Sep 1, 2017
TUBB1Sep 1, 2017
TUBB31Sep 1, 2017
TUBGCP24Sep 8, 2019
TUT11Mar 29, 2017
UBQLN11Mar 29, 2017
UFSP21Nov 15, 2015
UHMK11Nov 15, 2015
ULK21Mar 29, 2017
UNC804Mar 27, 2016
UPK3A1Jan 11, 2016
USP111Mar 29, 2017
USP192Jan 26, 2017
VARS12Mar 29, 2017
VCL3Aug 26, 2017
VPS13B5Sep 1, 2017
VPS81Jun 17, 2019
VRK13Nov 4, 2015
WNT5A5Sep 30, 2020
WWP11Aug 26, 2017
YARS11Nov 5, 2015
ZBTB201Jan 26, 2017
ZEB22Mar 29, 2017
ZFP301Nov 15, 2015
ZFYVE162Jun 1, 2018
ZIC36Jun 1, 2018
ZNF3352Jan 26, 2017
ZNF4232Mar 29, 2017

Condition

NameSubmissionsLast Updated
ALG12-congenital disorder of glycosylation2Nov 15, 2015
Aarskog syndrome4Sep 30, 2020
Abnormal biliary tract morphology1Jan 26, 2017
Abnormal cortical gyration1Jun 20, 2016
Abnormal muscle tone1Jan 26, 2017
Abnormality of brain morphology90Mar 29, 2017
Abnormality of neuronal migration5Sep 8, 2019
Abnormality of the basal ganglia1Jan 26, 2017
Abnormality of the cerebral cortex2Jun 20, 2016
Abnormality of the cerebral white matter2Jun 20, 2016
Abnormality of the corpus callosum4Sep 1, 2017
Absent speech5Nov 15, 2015
Aicardi Goutieres syndrome 11Jun 17, 2019
Aicardi Goutieres syndrome 21Jun 20, 2016
Angioedema1Apr 23, 2020
Anomalous pulmonary venous return1Jun 1, 2018
Anteriorly placed anus1Jun 20, 2016
Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis1Jun 17, 2019
Aplasia/Hypoplasia of the nails1Jul 20, 2018
Arthrogryposis, distal, type 2B21Jun 17, 2019
Asplenia1Jan 26, 2017
Astigmatism1Jun 20, 2016
Atrial septal defect1Jul 20, 2018
Attention deficit hyperactivity disorder7Jan 26, 2017
Autistic behavior1Jun 20, 2016
Autistic disorder of childhood onset1Jan 26, 2017
Autoimmune disease, multisystem, infantile-onset, 19Nov 15, 2015
Autoimmune interstitial lung, joint, and kidney disease4Nov 4, 2015
Autosomal recessive multiple pterygium syndrome4Jun 17, 2019
Bartsocas-Papas syndrome1Jun 17, 2019
Benign concentric annular macular dystrophy4Nov 4, 2015
Benign familial neonatal seizures 21Nov 15, 2015
Beta-hydroxyisobutyryl-CoA deacylase deficiency1Jun 20, 2016
Bethlem myopathy 14Jun 17, 2019
Bifunctional peroxisomal enzyme deficiency1Jun 17, 2019
Blepharophimosis5Nov 15, 2015
Borjeson-Forssman-Lehmann syndrome1Jun 20, 2016
Bosch-Boonstra-Schaaf optic atrophy syndrome9Jan 26, 2017
Brain atrophy4Jun 20, 2016
Branchiootorenal Syndrome 12Jan 11, 2016
Branchiootorenal syndrome 21Jan 11, 2016
Broad nasal tip1Jul 20, 2018
Broad thumb1Jul 20, 2018
Broad-based gait1Jan 26, 2017
Bruck syndrome 11Jun 17, 2019
CHARGE association1Nov 4, 2015
CNS hypomyelination2Jun 20, 2016
Cardiomyopathy1Jan 26, 2017
Carious teeth2Jun 20, 2016
Cataract Hutterite type1Nov 15, 2015
Cerebellar ataxia1Jan 26, 2017
Cerebellar atrophy2Jun 20, 2016
Cerebellar atrophy, visual impairment, and psychomotor retardation1Jan 26, 2017
Cerebellar cortical atrophy1Jun 20, 2016
Cerebellar dysplasia1Jun 11, 2019
Cerebellar malformation1Jun 20, 2016
Cerebellar vermis atrophy1Jan 26, 2017
Cerebral atrophy1Jun 20, 2016
Cerebral hypomyelination2Jun 20, 2016
Cerebral visual impairment and intellectual disability18Nov 15, 2015
Charcot-Marie-Tooth Neuropathy X Type 11Nov 5, 2015
Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B1Jun 17, 2019
Charcot-Marie-Tooth disease, axonal, type 2R1Nov 5, 2015
Charcot-Marie-Tooth disease, demyelinating, type 1G1Jun 14, 2019
Charcot-Marie-Tooth disease, demyelinating, type 1b3Nov 15, 2015
Charcot-Marie-Tooth disease, dominant intermediate B2Nov 4, 2015
Charcot-Marie-Tooth disease, dominant intermediate C1Nov 5, 2015
Charcot-Marie-Tooth disease, type 2A2A7Nov 15, 2015
Charcot-Marie-Tooth disease, type 2N1Nov 5, 2015
Charcot-Marie-Tooth disease, type 4C2Nov 5, 2015
Charcot-Marie-Tooth disease, type 4D1Nov 4, 2015
Choreoathetosis1Jun 11, 2019
Chorioretinal lacunae2Jun 11, 2019
Chromosome 17p13.1 deletion syndrome5Nov 15, 2015
Chromosome Xq26.3 duplication syndrome6Mar 23, 2016
Ciliary dyskinesia, primary, 31Jun 1, 2018
Ciliary dyskinesia, primary, 52Jun 1, 2018
Cleft anterior mitral valve leaflet1Jul 20, 2018
Coarse facial features1Jul 20, 2018
Cobalamin C disease1Nov 4, 2015
Cohen syndrome2Sep 1, 2017
Cold-induced sweating syndrome 11Jun 17, 2019
Coloboma of optic nerve (disease)1Jun 11, 2019
Combined deficiency of sialidase AND beta galactosidase2Nov 15, 2015
Combined oxidative phosphorylation deficiency 141Jun 20, 2016
Combined oxidative phosphorylation deficiency 312Jan 26, 2017
Cone-rod dystrophy 182Nov 15, 2015
Cone-rod dystrophy 31Jan 26, 2017
Congenital anomalies of kidney and urinary tract10Jan 11, 2016
Congenital anomalies of kidney and urinary tract 1, susceptibility to6Jan 11, 2016
Congenital contractural arachnodactyly1Jun 17, 2019
Congenital contractures of the limbs and face, hypotonia, and developmental delay2Jan 26, 2017
Congenital diaphragmatic hernia5Nov 15, 2015
Congenital disorder of deglycosylation1Nov 15, 2015
Congenital disorder of glycosylation type 1Q1Apr 13, 2016
Congenital disorder of glycosylation type 2L1Jun 17, 2019
Congenital muscular hypertrophy-cerebral syndrome2Dec 5, 2014
Conotruncal defect1Jun 1, 2018
Cornelia de Lange syndrome 112Dec 5, 2014
Cornelia de Lange syndrome 31Dec 5, 2014
Cornelia de Lange syndrome 51Dec 5, 2014
Corpus callosum, agenesis of2Jun 11, 2019
Corpus callosum, partial agenesis of, X-linked1Sep 1, 2017
Cortical dysplasia, complex, with other brain malformations 11Sep 1, 2017
Cortical dysplasia, complex, with other brain malformations 61Sep 1, 2017
Cortical gyral simplification2Sep 1, 2017
Cowchock syndrome1Nov 5, 2015
Cowden syndrome 11Sep 1, 2017
Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome1Nov 4, 2015
Cryptorchidism1Jun 20, 2016
DOORS syndrome8Nov 15, 2015
Dandy-Walker syndrome2Jun 20, 2016
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase1Jun 11, 2019
Delayed myelination2Jun 20, 2016
Delayed speech and language development6Jul 20, 2018
Developmental regression1Jan 26, 2017
Dextrocardia5Jun 1, 2018
Diastrophic dysplasia1Jun 17, 2019
Distal arthrogryposis type 1A2Jun 17, 2019
Distal arthrogryposis type 5D7Jun 17, 2019
Distal shortening of limbs4Jun 16, 2017
Distal spinal muscular atrophy, congenital nonprogressive1Jun 17, 2019
Duodenal atresia (disease)1Jan 26, 2017
Dyspnea1Jan 26, 2017
Dystonia1Jun 20, 2016
EEG abnormality1Jan 26, 2017
Early Onset Neurological Disease Trait5Jul 24, 2019
Elbow flexion contracture2Jun 20, 2016
Emery-Dreifuss muscular dystrophy 2, autosomal dominant1Jun 17, 2019
Emery-Dreifuss muscular dystrophy 4, autosomal dominant2Jun 17, 2019
Enlarged kidney1Jun 11, 2019
Epicanthus1Jun 20, 2016
Epilepsy, focal, with speech disorder and with or without mental retardation1Oct 13, 2020
Epileptic encephalopathy3Jun 17, 2019
Epileptic encephalopathy, early infantile, 254Jan 26, 2017
Esotropia1Jun 20, 2016
Failure to thrive1Jan 26, 2017
Feeding difficulties1Jun 20, 2016
Flexion contracture37Jun 17, 2019
Focal cortical dysplasia type II1Sep 1, 2017
Focal dermal hypoplasia1Jun 20, 2016
Frank-Ter Haar syndrome1Jul 30, 2018
Freeman-Sheldon syndrome1Jun 17, 2019
GAPO syndrome3Nov 15, 2015
Gastroesophageal reflux1Jul 20, 2018
Generalized hypotonia5Jan 26, 2017
Generalized joint laxity1Jun 20, 2016
Gingival fibromatosis 13Jun 8, 2017
Global developmental delay34Mar 29, 2017
Glycogen storage disease, type IV2Jun 17, 2019
Gordon syndrome1Jun 17, 2019
Growth delay due to insulin-like growth factor type 1 deficiency1Jun 17, 2019
Harel-Yoon syndrome1Jan 26, 2017
Hearing impairment3Mar 29, 2017
Heart, malformation of1Jun 1, 2018
Helsmoortel-Van der Aa Syndrome1Jun 17, 2019
Hereditary motor and sensory neuropathy, Okinawa type1Nov 5, 2015
Hereditary spastic paraplegia 22Jul 24, 2019
Heterotaxy, visceral, 1, X-linked6Jun 1, 2018
Heterotaxy, visceral, 4, autosomal2Jun 1, 2018
Heterotaxy, visceral, 7, autosomal2Jun 1, 2018
High palate1Jan 26, 2017
Hirsutism1Jan 26, 2017
Hydronephrosis1Jun 20, 2016
Hyperlipoproteinemia, type ID2Nov 15, 2015
Hypermetropia1Jun 20, 2016
Hypertelorism2Jun 20, 2016
Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis1Jun 20, 2016
Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1)2Jan 11, 2016
Hypomyelinating leukodystrophy 31Nov 5, 2015
Hypomyelinating leukodystrophy 71Jun 17, 2019
Hypoplasia of the corpus callosum8Jan 26, 2017
Hypotonia, infantile, with psychomotor retardation and characteristic facies 24Mar 27, 2016
Immunodeficiency 141Jan 26, 2017
Immunodeficiency 235Nov 15, 2015
Immunodeficiency 81Nov 5, 2015
Increased histidine3Nov 15, 2015
Infantile cerebellar-retinal degeneration1Jun 20, 2016
Infantile myofibromatosis 12Nov 4, 2015
Infantile spasms2Jun 20, 2016
Inguinal hernia1Jul 20, 2018
Intellectual developmental disorder with cardiac arrhythmia2Jan 26, 2017
Intellectual disability38Jun 17, 2019
Intellectual disability, moderate5Nov 15, 2015
Intellectual disability-cataracts-calcified pinnae-myopathy syndrome1Jan 26, 2017
Joubert syndrome 12Jan 26, 2017
Joubert syndrome 212Sep 1, 2017
KBG syndrome1Oct 13, 2020
Kartagener syndrome1Jun 1, 2018
Keratoconus 14Apr 27, 2016
Klippel-Feil syndrome 2, autosomal recessive1Nov 4, 2015
Klippel-feil syndrome 4, autosomal recessive, with nemaline myopathy and facial dysmorphism3Jun 17, 2019
Knee flexion contracture2Jun 20, 2016
Laryngeal hypoplasia1Jun 20, 2016
Leigh syndrome2Nov 5, 2015
Lethal congenital contracture syndrome 41Jun 17, 2019
Lethal congenital contracture syndrome 81Nov 5, 2015
Lethal congenital contracture syndrome 91Jun 17, 2019
Leukodystrophy, hypomyelinating, 112Jan 26, 2017
Liddle syndrome 11Jun 23, 2016
Limb-girdle muscular dystrophy, type 2J2Jun 17, 2019
Limb-girdle muscular dystrophy, type 2Q2Jun 17, 2019
Limb-girdle muscular dystrophy, type 2S1Jan 26, 2017
Limb-girdle muscular dystrophy-dystroglycanopathy, type C32Jun 17, 2019
Lissencephaly1Sep 1, 2017
Lissencephaly 31Sep 1, 2017
Lissencephaly, X-linked1Sep 1, 2017
Long eyelashes5Nov 15, 2015
Macule1Jun 20, 2016
Megalencephalic leukoencephalopathy with subcortical cysts 11Jun 20, 2016
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 21Nov 15, 2015
Mental retardation, X-linked 1023Jan 26, 2017
Mental retardation, X-linked 931Jun 17, 2019
Mental retardation, X-linked 981Oct 13, 2020
Mental retardation, autosomal dominant 131Sep 1, 2017
Mental retardation, autosomal dominant 61Nov 15, 2015
Mental retardation, autosomal recessive 381Jun 20, 2016
Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations1Sep 1, 2017
Metachromatic leukodystrophy1Jun 20, 2016
Microcephaly18Jun 11, 2019
Microcephaly 17, primary, autosomal recessive1Jun 17, 2019
Microphthalmia/coloboma and skeletal dysplasia syndrome4Nov 15, 2015
Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)1Jan 26, 2017
Mucopolysaccharidosis, MPS-II1Jun 17, 2019
Multiple renal cysts2Jun 11, 2019
Muscular hypotonia16Jun 20, 2016
Muscular hypotonia of the trunk1Mar 29, 2017
Myopathy, centronuclear, 52Jun 17, 2019
Myopia (disease)1Jun 20, 2016
N-terminal acetyltransferase deficiency1Jan 26, 2017
Nemaline myopathy 22Jun 17, 2019
Neurodevelopmental delay17Jun 11, 2019
Neurodevelopmental disorder19May 18, 2021
Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy1May 20, 2020
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant1Nov 15, 2015
Neurogenic bladder1Jan 26, 2017
Non-obstructive azoospermia1Nov 15, 2015
Nonsyndromic hypergonadotropic hypogonadism2Nov 4, 2015
Noonan syndrome 11Jun 16, 2017
Noonan syndrome-like disorder with loose anagen hair 21Sep 30, 2020
Norman-Roberts syndrome2Sep 1, 2017
Nystagmus3Jun 20, 2016
Obesity1Jun 20, 2016
Obsessive-compulsive behavior2Jan 26, 2017
Oculomotor apraxia1Jan 26, 2017
Opsismodysplasia1Jul 30, 2018
Oral-pharyngeal dysphagia1Jun 20, 2016
Orofacial cleft8Mar 24, 2016
Orofaciodigital syndrome type 61Nov 15, 2015
Ovarian dysgenesis 31Jun 11, 2019
Ovarian dysgenesis 42Jun 11, 2019
PERCHING syndrome4Jun 17, 2019
Parkinson disease9Mar 23, 2016
Patent foramen ovale1Jun 20, 2016
Peripheral neuropathy4Nov 15, 2015
Peripheral neuropathy, myopathy, hoarseness, and hearing loss3Jun 17, 2019
Periventricular gray matter heterotopia1Jun 11, 2019
Periventricular leukomalacia2Jun 20, 2016
Periventricular nodular heterotopia 11Sep 1, 2017
Pineoblastoma6Nov 15, 2015
Pitt-Hopkins syndrome1Feb 1, 2017
Pituitary stalk interruption syndrome1Nov 4, 2015
Polycystic kidney disease1Jun 11, 2019
Polymicrogyria8Jun 11, 2019
Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis2Jun 17, 2019
Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract1Nov 5, 2015
Pontocerebellar hypoplasia type 1A3Nov 4, 2015
Pontocerebellar hypoplasia, type 101Nov 4, 2015
Postaxial polydactyly1Jun 11, 2019
Prader-Willi syndrome1Feb 1, 2017
Premature ovarian failure14Jun 11, 2019
Premature ovarian failure 103Jun 11, 2019
Premature ovarian failure 51Jun 11, 2019
Primary autosomal recessive microcephaly 102Jan 26, 2017
Primary autosomal recessive microcephaly 52Sep 1, 2017
Primary autosomal recessive microcephaly 61Jun 17, 2019
Primary ciliary dyskinesia 239Nov 15, 2015
Progressive myoclonus epilepsy with ataxia1Nov 15, 2015
Pulmonary emphysema1Jun 11, 2019
Recurrent otitis media1Jul 20, 2018
Reduced number of intrahepatic bile ducts1Jan 26, 2017
Reduced renal corticomedullary differentiation3Jun 11, 2019
Relative macrocephaly2Jan 26, 2017
Renal atrophy1Jun 20, 2016
Renal coloboma syndrome1Jan 11, 2016
Renal cysts and diabetes syndrome2Jan 11, 2016
Renal dysplasia1Jan 26, 2017
Renal hypodysplasia/aplasia 11Jan 11, 2016
Renal hypoplasia (disease)1Jun 11, 2019
Renpenning syndrome 11Jun 17, 2019
Retinal dystrophy, juvenile cataracts, and short stature syndrome2Nov 15, 2015
Retrognathia1Jun 20, 2016
Robinow syndrome, autosomal dominant 113Sep 30, 2020
Robinow syndrome, autosomal dominant 219Sep 30, 2020
Robinow syndrome, autosomal dominant 33Sep 30, 2020
Robinow syndrome, autosomal recessive25Oct 1, 2020
Robinow syndrome, autosomal recessive 22Sep 8, 2020
Rubinstein-Taybi syndrome 21Sep 1, 2017
SLC35A2-CDG1Nov 15, 2015
Sandhoff disease1Jun 20, 2016
Scapuloperoneal myopathy, X-linked dominant1Jun 17, 2019
Schizoaffective disorder, depressive type1Nov 15, 2015
See cases2Oct 13, 2020
Seizures25Jan 25, 2021
Sensory neuropathy1Nov 5, 2015
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive2Nov 5, 2015
Short nose1Jun 20, 2016
Short stature5Jun 11, 2019
Shwachman-Diamond syndrome 11Nov 15, 2015
Skeletal muscle atrophy1Jun 20, 2016
Skeletal myopathy1Nov 5, 2015
Sleep apnea3Nov 15, 2015
Sleep disturbance1Mar 29, 2017
Smith-Magenis Syndrome-like12Sep 6, 2016
Smith-Magenis syndrome1Nov 15, 2015
Sotos syndrome 11Nov 5, 2015
Spastic Paraplegia 2, mild, late onset1Jul 24, 2019
Spastic paraplegia 30, autosomal recessive1Sep 18, 2020
Spastic paraplegia 4, autosomal dominant49Nov 15, 2015
Spastic paraplegia 50, autosomal recessive1Jun 17, 2019
Spastic tetraplegia, thin corpus callosum, and progressive microcephaly1Jan 26, 2017
Specific language impairment 51Nov 15, 2015
Spinal muscular atrophy, distal, autosomal recessive, 14Nov 5, 2015
Spinal muscular atrophy, distal, autosomal recessive, 52Nov 5, 2015
Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant1Jun 17, 2019
Spinocerebellar ataxia type 19/221Jan 26, 2017
Spinocerebellar ataxia type 291Nov 5, 2015
Spinocerebellar ataxia, autosomal recessive 181Jun 20, 2016
Spinocerebellar ataxia, autosomal recessive 22Jan 26, 2017
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 21Nov 5, 2015
Spondylocostal dysostosis 57Nov 15, 2015
Stargardt disease 14Mar 23, 2016
Steel syndrome2Mar 22, 2020
Strabismus4Mar 29, 2017
Stüve-Wiedemann syndrome2Jun 17, 2019
Syncope1Jul 20, 2018
Syndromic X-linked intellectual disability Lubs type2Nov 15, 2015
Syndromic intellectual disability1Dec 5, 2014
Thick lower lip vermilion5Nov 15, 2015
Thin upper lip vermilion5Nov 15, 2015
Tooth agenesis9Mar 24, 2016
Torticollis1Jul 20, 2018
Townes-Brocks syndrome 12Jan 11, 2016
Ullrich congenital muscular dystrophy 21Jun 17, 2019
Umbilical hernia1Jul 20, 2018
Unilateral renal agenesis1Jun 11, 2019
Unsteady gait2Jan 26, 2017
Ventricular septal defect2Jun 20, 2016
Vesicoureteral reflux1Jun 20, 2016
Vesicoureteral reflux 23Jan 11, 2016
Vesicoureteral reflux 82Jan 11, 2016
Visceral heterotaxy 5, autosomal3Jun 1, 2018
Visceral myopathy10Nov 4, 2015
Visual impairment1Jan 26, 2017
White-sutton syndrome5Nov 15, 2015
Wide nasal bridge2Jan 26, 2017
Wiedemann-Steiner syndrome3Dec 5, 2014
Wolff-Parkinson-White pattern85Aug 26, 2017
not provided5Jul 24, 2019
not specified10Jul 24, 2019
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