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Department Of Translational Genomics (developmental Genetics Section) (King Faisal Specialist Hospital & Research Centre), DGU-KFSHRC

General information

Department Of Translational Genomics (developmental Genetics Section), DGU-KFSHRC
King Faisal Specialist Hospital & Research Centre
MBC 03
PO Box 3354
Riyadh
Saudi Arabia - 11211

Organization ID: 500184

Personnel

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 786

Gene

GeneSubmissionsLast Updated
ABAT1Apr 14, 2015
ABCA31Sep 12, 2021
ABCA44Apr 14, 2015
ABCB41Apr 14, 2015
ABCC21Apr 14, 2015
ABCC94Mar 8, 2024
ABHD121Feb 14, 2024
ACE1Dec 13, 2019
ACOX11Sep 12, 2021
ACTB1Apr 14, 2015
ACTN21Feb 14, 2024
ACYP11Dec 30, 2014
ADAT31Dec 30, 2014
ADK1Apr 14, 2015
ADRA2B1Apr 14, 2015
AGRN2Oct 3, 2016
AGT1Dec 13, 2019
AHI13Dec 13, 2019
AICDA1Apr 14, 2015
AIPL11Apr 14, 2015
AK21Apr 14, 2015
ALDH18A11Apr 14, 2015
ALDH3A21Apr 14, 2015
ALMS17Dec 13, 2019
ALPL1Sep 12, 2021
ALS21Apr 14, 2015
AMPD21Dec 30, 2014
ANK23Feb 14, 2024
ANKRD11Apr 14, 2015
ANKS31Sep 12, 2021
AP4M11Dec 30, 2014
ARFGEF22Apr 14, 2015
ARHGEF61Oct 3, 2016
ARID1B2Oct 3, 2016
ARL13B2Oct 2, 2016
ARL14EP2Apr 14, 2015
ARL61Apr 14, 2015
ARV11Dec 30, 2014
ASAH11Apr 14, 2015
ASCC11Sep 12, 2021
ASNS1Sep 12, 2021
ASPM3Sep 12, 2021
ASXL13Mar 8, 2024
ATL11Apr 14, 2015
ATN11Apr 14, 2015
ATP11C1Sep 12, 2021
ATP1A32Sep 12, 2021
ATP2B31Oct 3, 2016
ATRX1Apr 14, 2015
B3GAT31Sep 12, 2021
B4GALT71Nov 8, 2016
B4GAT12Sep 12, 2021
B9D11Oct 2, 2016
BAAT1Apr 14, 2015
BAG31May 1, 2024
BBIP11Dec 13, 2019
BBS15Dec 13, 2019
BBS101Oct 2, 2016
BBS25Dec 13, 2019
BBS44Oct 2, 2016
BBS54Oct 2, 2016
BBS72Dec 13, 2019
BBS95Oct 2, 2016
BCS1L1Sep 12, 2021
BIVM-ERCC51Sep 12, 2021
BLM1Apr 14, 2015
BLTP13Sep 12, 2021
BRCA22Oct 3, 2016
C12orf571Dec 30, 2014
C19orf121Dec 30, 2014
C1QTNF52Apr 14, 2015
C1orf1051Apr 14, 2015
CACNA1C1Apr 14, 2015
CACNA1F2Oct 3, 2016
CACNA1G2Apr 14, 2015
CANT11Sep 12, 2021
CAPN33May 1, 2024
CBX31Feb 2, 2020
CC2D2A3Dec 13, 2019
CCDC1721Dec 13, 2019
CCDC681Feb 2, 2020
CCDC88C1Apr 14, 2015
CCDST1Oct 3, 2016
CCNO1Feb 2, 2020
CD2471Oct 3, 2016
CD40LG2Apr 14, 2015
CDH232Apr 14, 2015
CDHR13Apr 14, 2015
CDK5RAP21Apr 14, 2015
CELSR21Oct 2, 2016
CENPH1Feb 2, 2020
CENPJ1Apr 14, 2015
CEP2904Oct 2, 2016
CEP2951Dec 13, 2019
CEP551Dec 13, 2019
CEP571Apr 14, 2015
CERKL1Apr 14, 2015
CFAP1841Dec 13, 2019
CFTR1Apr 14, 2015
CFTR-AS11Apr 14, 2015
CHAF1B1Dec 30, 2014
CHAT1Sep 12, 2021
CHD72Oct 3, 2016
CHM1Apr 14, 2015
CHPT11Sep 12, 2021
CHRNA13Sep 12, 2021
CHRNG2Sep 12, 2021
CIMIP2B1Dec 13, 2019
CLHC11Dec 30, 2014
CNGA33Apr 14, 2015
CNNM41Apr 14, 2015
CNTNAP11Sep 12, 2021
COG61Dec 30, 2014
COL11A23Sep 12, 2021
COL18A12Apr 14, 2015
COL1A14Apr 14, 2015
COL1A21Apr 14, 2015
COL2A11Apr 14, 2015
COL4A31Apr 14, 2015
COL4A43May 14, 2024
COL4A61Apr 14, 2015
COL6A11Apr 14, 2015
COL6A21Apr 14, 2015
COL6A31Apr 14, 2015
COL7A11Apr 14, 2015
COLEC111Oct 3, 2016
COLGALT11Dec 13, 2019
COQ8A2Apr 14, 2015
CPA61Apr 14, 2015
CPLANE13Dec 13, 2019
CPT21Dec 13, 2019
CRB13Apr 14, 2015
CREBBP1Apr 14, 2015
CRIPT2May 8, 2014
CRPPA1Sep 12, 2021
CRX2Apr 14, 2015
CRYBA11Apr 14, 2015
CRYGC1Apr 14, 2015
CRYGD1Apr 14, 2015
CSPP11Dec 30, 2014
CTSA3Sep 17, 2021
CTSD1Dec 30, 2014
CTU24Jul 3, 2019
CUL75Apr 14, 2015
CYBB1Oct 3, 2016
CYP27A12Apr 14, 2015
CYP2U12Dec 30, 2014
CZ1P-ASNS1Sep 12, 2021
DCAF173Jun 8, 2024
DCDC21Dec 13, 2019
DCLRE1C2Apr 14, 2015
DDHD21Dec 30, 2014
DDX39A1Apr 14, 2015
DEUP11Dec 13, 2019
DIAPH11Dec 30, 2014
DLAT1Sep 12, 2021
DLL31Apr 14, 2015
DMAP11Sep 12, 2021
DMBX11Dec 30, 2014
DMD2Jun 8, 2024
DNA21Dec 30, 2014
DNAH111Feb 2, 2020
DNAH141Jun 6, 2017
DOCK61Dec 30, 2014
DOCK81Apr 14, 2015
DPH12Sep 12, 2021
DSG22Jun 8, 2024
DSG2-AS11Apr 14, 2015
DSP1Apr 14, 2015
DYM5Apr 14, 2015
DYNC2H12Sep 12, 2021
DYNC2I12Dec 13, 2019
DYNLT2B1Oct 2, 2016
DYSF3Apr 14, 2015
EBP1Apr 14, 2015
ECEL12Apr 14, 2015
EFEMP11Oct 3, 2016
EHBP1L12Sep 12, 2021
EHMT12Apr 14, 2015
EML11Sep 12, 2021
EOGT1Dec 30, 2014
EP3001Apr 14, 2015
EPB41L4A1Dec 30, 2014
EPHA21Apr 14, 2015
ERCC21Sep 12, 2021
ERCC51Sep 12, 2021
ERCC81Apr 14, 2015
ETFA2Sep 12, 2021
EVC3Dec 13, 2019
EVC22Sep 12, 2021
EXOC3L22Sep 12, 2021
EXOC41Dec 30, 2014
EXT11Apr 14, 2015
EYS1Apr 14, 2015
FAAH21Sep 12, 2021
FAM120AOS1Dec 30, 2014
FAM149B11Dec 13, 2019
FAM177A11Dec 30, 2014
FAM20C1Dec 30, 2014
FAM98C1Oct 2, 2016
FAN11Apr 14, 2015
FANCM1Oct 3, 2016
FARS21Dec 30, 2014
FBN21Dec 30, 2014
FBXL41Dec 30, 2014
FCRL41Sep 12, 2021
FEN11Sep 12, 2021
FERRY31Dec 30, 2014
FKBP102Apr 14, 2015
FKRP2Dec 13, 2019
FKTN3Sep 12, 2021
FLG1Oct 3, 2016
FLVCR22Sep 12, 2021
FOXG11Apr 14, 2015
FRAS12Apr 14, 2015
FREM21Sep 12, 2021
FSHR1Feb 2, 2020
FZD61Apr 14, 2015
GAA1Oct 3, 2016
GAL3ST21May 10, 2015
GALNT141Apr 14, 2015
GATAD12Sep 12, 2021
GBA21Apr 14, 2015
GCNT21Apr 14, 2015
GDAP12Apr 14, 2015
GDF31Apr 14, 2015
GEMIN41Dec 30, 2014
GFPT11Sep 12, 2021
GHRHR1Apr 14, 2015
GIGYF21Apr 14, 2015
GLRX51Sep 12, 2021
GM2A1Dec 30, 2014
GNB51Aug 27, 2016
GNPAT1Sep 12, 2021
GNPTAB1Sep 12, 2021
GNS1Apr 14, 2015
GPR1791Apr 14, 2015
GPX41Sep 12, 2021
GTPBP31Sep 12, 2021
GUCY2D2Apr 14, 2015
GUSB5Apr 14, 2015
H6PD1Oct 3, 2016
HEPACAM1Apr 14, 2015
HPS11Apr 14, 2015
HSD17B43Sep 12, 2021
HSD3B71Apr 14, 2015
HTRA21Sep 12, 2021
HUWE11Oct 3, 2016
IFT1223Oct 2, 2016
IFT1401Oct 2, 2016
IFT251Sep 12, 2021
IFT562Sep 12, 2021
IGF11May 8, 2014
IGFBP71Sep 12, 2021
IL7R2Apr 14, 2015
IMPG25Oct 3, 2016
INO802Dec 30, 2014
INVS2Sep 12, 2021
ISCA21Dec 30, 2014
ITGB41Sep 12, 2021
JAK32Apr 14, 2015
KAAG11Dec 13, 2019
KATNIP2Dec 13, 2019
KCNE21Apr 14, 2015
KCNH21Apr 14, 2015
KCNJ131Apr 14, 2015
KCTD31Dec 30, 2014
KCTD71Sep 12, 2021
KIAA05862Oct 2, 2016
KIF192Sep 12, 2021
KIF1A1Apr 14, 2015
KIF71Dec 13, 2019
KLHL411Dec 30, 2014
KMT2A1Apr 14, 2015
KMT2D1Apr 14, 2015
KNL11Apr 14, 2015
KRIT11Sep 12, 2021
KRT831Apr 14, 2015
L1CAM1Apr 14, 2015
LACC11May 10, 2015
LAMA22Apr 14, 2015
LAMA31Sep 12, 2021
LAMB22Apr 14, 2015
LAMB32Sep 12, 2021
LARGE11Apr 14, 2015
LARS22Sep 12, 2021
LCA51Apr 14, 2015
LDB31Apr 14, 2015
LFNG1Sep 12, 2021
LGI41Sep 12, 2021
LIFR1Apr 14, 2015
LINC024561May 8, 2014
LMNA2Oct 13, 2015
LOC1001299311Dec 13, 2019
LOC1005074432Apr 14, 2015
LOC1019288611Dec 30, 2014
LOC1053727911Apr 14, 2015
LOC1101212691Apr 14, 2015
LOC1217251101Dec 6, 2015
LOC1268056881Apr 14, 2015
LOC1268057931Apr 14, 2015
LOC1268058221Dec 30, 2014
LOC1268058811Sep 12, 2021
LOC1268062521Apr 14, 2015
LOC1268064231Oct 3, 2016
LOC1268064251Apr 14, 2015
LOC1268064331Apr 14, 2015
LOC1268071372Feb 14, 2024
LOC1268072121Sep 17, 2019
LOC1268595651Dec 30, 2014
LOC1268600551Apr 14, 2015
LOC1268618341Sep 12, 2021
LOC1268620471Sep 12, 2021
LOC1268622461Jun 10, 2021
LOC1278142971Apr 14, 2015
LOC1300659451Feb 2, 2020
LOC1300680931Oct 3, 2016
LOC1300682021Apr 14, 2015
LOC6513371Apr 14, 2015
LOXHD11Oct 3, 2016
LRAT1Apr 14, 2015
LRP51Apr 14, 2015
LRPPRC1Apr 14, 2015
LRRC341Dec 13, 2019
LRRCC11Oct 2, 2016
LTBP21Apr 14, 2015
LYST1Apr 14, 2015
MAPKBP11Dec 13, 2019
MASP11Apr 14, 2015
MATN41Dec 30, 2014
MCPH12Apr 14, 2015
MCPH1-AS11Apr 14, 2015
MECP21Apr 14, 2015
MED231Apr 14, 2015
MERTK3Apr 14, 2015
MFF1Dec 30, 2014
MFF-DT1Apr 14, 2015
MFRP2Apr 14, 2015
MFSD81Sep 12, 2021
MGAT21Dec 30, 2014
MKS16Sep 12, 2021
MLPH2Apr 14, 2015
MMACHC1Sep 12, 2021
MMP21Apr 14, 2015
MOCS31Sep 12, 2021
MRI11Dec 30, 2014
MSN1Sep 12, 2021
MTR1Dec 30, 2014
MTSS21Dec 30, 2014
MTTP1Sep 12, 2021
MYBPC32Apr 14, 2015
MYBPHL1Sep 12, 2021
MYH111Sep 12, 2021
MYH61Apr 14, 2015
MYL31Apr 14, 2015
MYO7A2Apr 14, 2015
MYOCD1Dec 30, 2014
MYOM11Apr 14, 2015
MYPN1Apr 14, 2015
MZT2B1Dec 30, 2014
NAXE1Sep 12, 2021
NDE11Oct 3, 2016
NDUFS11Apr 14, 2015
NEB3Sep 12, 2021
NECAP11Dec 30, 2014
NEK12Oct 2, 2016
NEK41Oct 2, 2016
NEK81Apr 14, 2015
NFIX2Apr 14, 2015
NHEJ11Apr 14, 2015
NHS2Apr 14, 2015
NIBAN31Dec 13, 2019
NID11Dec 30, 2014
NLRP51Feb 2, 2020
NLRP71Feb 2, 2020
NMNAT11Apr 14, 2015
NODAL1Sep 23, 2019
NOTCH12Apr 14, 2015
NPC21Dec 30, 2014
NPHP32Dec 13, 2019
NPHP3-ACAD113Sep 12, 2021
NPHP43Apr 14, 2015
NPHS11Apr 14, 2015
NR2E35Apr 14, 2015
NSD12Apr 14, 2015
NTRK11Apr 14, 2015
NUP1071Dec 30, 2014
NUP1601Sep 12, 2021
OBSL11Apr 14, 2015
OCLN1Dec 30, 2014
OFD11Oct 2, 2016
OPLAH1Apr 14, 2015
OPTN1Apr 14, 2015
OTOF1Apr 14, 2015
P3H11Apr 14, 2015
PABPC1L1Feb 2, 2020
PAX61Apr 14, 2015
PCDHB41Dec 30, 2014
PCDHB@1Dec 30, 2014
PCNT3Apr 14, 2015
PDE6C4Apr 14, 2015
PDE6D1Dec 13, 2019
PDGFRB1Oct 3, 2016
PDHA11Sep 12, 2021
PDPR1Nov 13, 2019
PEX15Sep 12, 2021
PEX123Sep 12, 2021
PEX261Apr 14, 2015
PEX61Apr 14, 2015
PHC11Dec 30, 2014
PHGDH1Apr 14, 2015
PIF11Feb 2, 2020
PIGC1Apr 14, 2015
PIGQ1Dec 30, 2014
PKD11Dec 13, 2019
PKHD15Dec 13, 2019
PKP21Apr 14, 2015
PLA2G62Sep 12, 2021
PLK11Feb 2, 2020
PLP11Apr 14, 2015
PNKP1Dec 30, 2014
PNPO1Sep 12, 2021
POC1A1Dec 30, 2014
POMGNT22Sep 12, 2021
POMT11Sep 12, 2021
POMT21Apr 14, 2015
POU4F31Apr 14, 2015
PPP1R12B1Sep 12, 2021
PROM11Apr 14, 2015
PRPF191Sep 12, 2021
PRPH21Apr 14, 2015
PRSS561Apr 14, 2015
PTPN231Dec 30, 2014
PTPRC1Apr 14, 2015
PTRH21Dec 30, 2014
RAB3GAP11Apr 14, 2015
RAB9B1Apr 14, 2015
RAG12Apr 14, 2015
RAG23Apr 14, 2015
RBBP81May 8, 2014
RELN1Apr 14, 2015
REN1Sep 12, 2021
REXO41Feb 2, 2020
RFXANK1Apr 14, 2015
RGS91Apr 14, 2015
RIPK41Oct 3, 2016
RLBP12Apr 14, 2015
RNASEH2A1Sep 12, 2021
RNASEH2B1Apr 14, 2015
RNASEH2C1Apr 14, 2015
RNF2161Dec 30, 2014
ROR21Apr 14, 2015
RP12Apr 14, 2015
RP21Apr 14, 2015
RPE651Apr 14, 2015
RPGRIP11Apr 14, 2015
RTTN4Dec 6, 2015
RYR11Dec 30, 2014
RYR23Jul 27, 2019
SBF11Dec 30, 2014
SCAMP41Dec 30, 2014
SCARF21Apr 14, 2015
SCN2A1Apr 14, 2015
SCN5A1Apr 14, 2015
SDCCAG81Dec 13, 2019
SEC24D1Dec 30, 2014
SEPSECS1Dec 30, 2014
SERPINA111Sep 12, 2021
SETX1Dec 30, 2014
SFTPB1Oct 3, 2016
SGCA1Apr 14, 2015
SLC13A51Dec 30, 2014
SLC16A121Apr 14, 2015
SLC17A53Sep 12, 2021
SLC19A11Apr 14, 2015
SLC25A191Apr 14, 2015
SLC25A421Dec 6, 2015
SLC4A41Apr 14, 2015
SMAD41Apr 14, 2015
SMARCD21Sep 12, 2021
SMG92Feb 11, 2016
SNRNP2001Apr 14, 2015
SOS12Apr 14, 2015
SPART2Apr 14, 2015
SPATA71Apr 14, 2015
SPDL11Dec 30, 2014
SPG111Apr 14, 2015
SPTBN21Apr 14, 2015
ST71Dec 30, 2014
ST7-AS21Dec 30, 2014
STAT31Apr 14, 2015
STXBP11Apr 14, 2015
SUFU1Dec 13, 2019
SVOPL1Sep 12, 2021
SYNE21Apr 14, 2015
SYNGAP11Apr 14, 2015
TAF61Dec 30, 2014
TAPT11Sep 12, 2021
TASP11Jun 7, 2019
TBCK1Dec 30, 2014
TBX31Dec 4, 2018
TCOF11Apr 14, 2015
TCTN13Sep 12, 2021
TCTN23Dec 13, 2019
TGM11Apr 14, 2015
THSD12Apr 14, 2015
TIGD11Sep 12, 2021
TJP21Apr 14, 2015
TLE61Feb 2, 2020
TLL11Sep 17, 2019
TMEM1382Dec 13, 2019
TMEM171Dec 13, 2019
TMEM2313Sep 12, 2021
TMEM2371Dec 30, 2014
TMEM2561Oct 2, 2016
TMEM256-PLSCR31Oct 2, 2016
TMEM677Sep 12, 2021
TMEM921Dec 30, 2014
TMPRSS151Sep 12, 2021
TNFRSF11B2Apr 14, 2015
TOGARAM11Dec 13, 2019
TP731Sep 12, 2021
TRAK11Sep 12, 2021
TRAPPC31Oct 2, 2016
TRAPPC91Apr 14, 2015
TRIP113Sep 12, 2021
TRMT11Apr 14, 2015
TRPM11Apr 14, 2015
TSEN151Dec 30, 2014
TTC21B1Dec 13, 2019
TTC231Jun 10, 2021
TTC61Dec 13, 2019
TTC81Dec 13, 2019
TTN21Oct 3, 2016
TTN-AS114Oct 3, 2016
TUBA1A1Apr 14, 2015
TUBA3E1Dec 30, 2014
TULP12Apr 14, 2015
TXNDC152Oct 2, 2016
TYMP1Apr 14, 2015
UBA51Sep 12, 2021
UBE3B1Apr 14, 2015
UBN11Apr 14, 2015
UBR12Sep 12, 2021
UGCG1Sep 12, 2021
UNC803Dec 6, 2015
UPK3A1Apr 14, 2015
USH2A2Oct 3, 2016
USP21Sep 12, 2021
VAPB1Oct 3, 2016
VCL1Oct 3, 2016
VIPAS391Oct 3, 2016
VPS13D1Sep 12, 2021
VPS253Dec 17, 2023
VRK11Sep 12, 2021
WASHC51Apr 14, 2015
WDPCP1Dec 13, 2019
WDR194Sep 12, 2021
WDR45B1Apr 14, 2015
WDR814Sep 12, 2021
WDR931Dec 30, 2014
WFS11Oct 3, 2016
WNK11Apr 14, 2015
WWOX1Dec 30, 2014
XDH1Oct 3, 2016
XIRP11Dec 30, 2014
XIRP21Sep 12, 2021
XRCC41May 8, 2014
YARS11Apr 14, 2015
ZDHHC244Dec 13, 2019
ZMIZ21Sep 12, 2021
ZNF5262Apr 14, 2015
ZNF6683Sep 12, 2021
ZP11Feb 2, 2020

Condition

NameSubmissionsLast Updated
3-methylglutaconic aciduria type 81Sep 12, 2021
3M syndrome 11May 8, 2014
Abetalipoproteinaemia1Sep 12, 2021
Abnormal cardiovascular system morphology2Feb 11, 2016
Abnormal corpus callosum morphology1Dec 30, 2014
Abnormal facial shape9Jun 7, 2019
Abnormal glycosylation1Dec 30, 2014
Abnormality of the skeletal system1Dec 30, 2014
Abnormality of the upper limb1Sep 12, 2021
Absence of the sacrum1Dec 30, 2014
Achondrogenesis, type IA3Sep 12, 2021
Acrocallosal syndrome1Dec 13, 2019
Acyl-CoA oxidase deficiency1Sep 12, 2021
Adams-Oliver syndrome2Dec 30, 2014
Aicardi-Goutieres syndrome 41Sep 12, 2021
Alkuraya-Kucinskas syndrome2Sep 12, 2021
Alstrom syndrome2Dec 13, 2019
Alternating hemiplegia of childhood 22Sep 12, 2021
Arrhythmogenic right ventricular dysplasia 101Jun 8, 2024
Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect1Sep 12, 2021
Asphyxiating thoracic dystrophy 11Oct 2, 2016
Asphyxiating thoracic dystrophy 37Sep 12, 2021
Ateleiotic dwarfism6Dec 30, 2014
Atrial septal defect 61Sep 17, 2019
Attention deficit hyperactivity disorder3Aug 27, 2016
Autistic spectrum disorder with isolated skills1Dec 30, 2014
Autosomal recessive Alport syndrome1May 14, 2024
Autosomal recessive congenital ichthyosis1Sep 12, 2021
Autosomal recessive limb-girdle muscular dystrophy type 2A1May 1, 2024
Autosomal recessive polycystic kidney disease4Dec 13, 2019
Axial hypotonia1Dec 30, 2014
Band heterotopia of brain1Sep 12, 2021
Bardet-Biedl syndrome13Oct 2, 2016
Bardet-Biedl syndrome 13Dec 13, 2019
Bardet-Biedl syndrome 151Dec 13, 2019
Bardet-Biedl syndrome 161Dec 13, 2019
Bardet-Biedl syndrome 181Dec 13, 2019
Bardet-Biedl syndrome 22Dec 13, 2019
Bardet-Biedl syndrome 72Dec 13, 2019
Bardet-Biedl syndrome 81Dec 13, 2019
Bifunctional peroxisomal enzyme deficiency1Sep 12, 2021
Bilateral squint1Dec 30, 2014
Bilateral undescended testicles1Dec 30, 2014
Blepharophimosis1Sep 12, 2021
Blindness1Dec 30, 2014
Brain atrophy5Dec 30, 2014
Brain iron accummulation1Dec 30, 2014
Brain malformation1Dec 30, 2014
Brain small vessel disease 31Dec 13, 2019
Brainstem dysplasia2Feb 11, 2016
CNS hypomyelination1Dec 30, 2014
Carnitine palmitoyl transferase II deficiency, severe infantile form1Dec 13, 2019
Caroli disease1Dec 13, 2019
Cerebellar ataxia5Dec 30, 2014
Cerebellar atrophy4Dec 30, 2014
Cerebellar vermis hypoplasia1Dec 30, 2014
Cerebello-oculo-renal syndrome (nephronophthisis, oculomotor apraxia and cerebellar abnormalities)1Dec 30, 2014
Cerebral calcification1Dec 30, 2014
Cerebral cavernous malformation1Sep 12, 2021
Cerebral ischemia1Dec 30, 2014
Cerebrooculofacioskeletal syndrome 21Sep 12, 2021
Charcot-Marie-Tooth disease1Dec 30, 2014
Chronic kidney disease1Dec 30, 2014
Chronic lung disease1Dec 30, 2014
Ciliopathy1Oct 2, 2016
Classical primary microcephaly1Dec 30, 2014
Clubfoot1Dec 30, 2014
Coarse facial features1Dec 30, 2014
Cobalamin C disease1Sep 12, 2021
Combined deficiency of sialidase AND beta galactosidase2Sep 17, 2021
Combined immunodeficiency due to moesin deficiency1Sep 12, 2021
Combined oxidative phosphorylation defect type 231Sep 12, 2021
Complex lethal osteochondrodysplasia1Sep 12, 2021
Congenital cerebellar hypoplasia1Dec 30, 2014
Congenital lactic acidosis1Sep 12, 2021
Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome1Sep 12, 2021
Congenital myasthenic syndrome 121Sep 12, 2021
Congenital nonbullous ichthyosiform erythroderma1Sep 12, 2021
Congenitally corrected transposition of the great arteries1Sep 23, 2019
Cortical dysplasia1Dec 30, 2014
Cranioectodermal dysplasia2Oct 2, 2016
Cutis laxa1Dec 30, 2014
Dandy-Walker syndrome2Dec 30, 2014
Death in infancy2Sep 12, 2021
Delayed reflexes1Dec 30, 2014
Delayed speech and language development1Aug 27, 2016
Desbuquois dysplasia 11Sep 12, 2021
Developmental and epileptic encephalopathy, 211Dec 30, 2014
Developmental and epileptic encephalopathy, 441Sep 12, 2021
Developmental and epileptic encephalopathy, 681Sep 12, 2021
Developmental cataract1Dec 30, 2014
Developmental delay with short stature, dysmorphic facial features, and sparse hair1Sep 12, 2021
Diabetes insipidus1Dec 30, 2014
Dizygotic twins1Feb 2, 2020
Dolichocephaly1Dec 30, 2014
Duchenne muscular dystrophy1Jun 8, 2024
Dysarthria2Dec 30, 2014
Dysdiadochokinesis2Dec 30, 2014
Dysmetria2Dec 30, 2014
Dysmorphism1Dec 30, 2014
Early onset focal segmental glomerulosclerosis1Dec 30, 2014
Elliptical nystagmus1Dec 30, 2014
Ellis-van Creveld syndrome3Sep 12, 2021
Encephalopathy3Dec 6, 2015
Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 11Sep 12, 2021
Enterokinase deficiency1Sep 12, 2021
Epilepsy2Dec 30, 2014
Exaggerated startle response1Dec 30, 2014
Facial hypotonia1Sep 12, 2021
Failure to thrive6Jul 15, 2021
Familial aplasia of the vermis6Dec 13, 2019
Familial infantile myasthenia1Sep 12, 2021
Familial retinal arterial macroaneurysm1Sep 12, 2021
Female infertility due to zona pellucida defect1Feb 2, 2020
Fetal akinesia deformation sequence 11Dec 30, 2014
Fibrochondrogenesis 21Sep 12, 2021
Flexed deformity1Dec 30, 2014
Focal epilepsy1Dec 30, 2014
Fowler syndrome1Sep 12, 2021
Fraser syndrome 21Sep 12, 2021
GRACILE syndrome1Sep 12, 2021
Gastroesophageal reflux1Dec 30, 2014
Generalized hypotonia1Sep 12, 2021
Global developmental delay42Jun 7, 2019
Gorlin syndrome1Dec 13, 2019
Growth delay due to insulin-like growth factor type 1 deficiency1May 8, 2014
Happy demeanor1Jun 7, 2019
Hearing impairment2Dec 30, 2014
Hemiparesis1Dec 30, 2014
Hereditary spastic paraplegia1Dec 30, 2014
High CSF lactic acid1Dec 30, 2014
Hirsutism1Dec 30, 2014
History of neonatal hypotonia1Dec 30, 2014
Holoprosencephaly sequence1Dec 30, 2014
Hydatidiform mole, recurrent, 11Feb 2, 2020
Hydranencephaly1Dec 30, 2014
Hydrocephalus6Sep 12, 2021
Hydrocephalus, congenital, 3, with brain anomalies1Sep 12, 2021
Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome1Sep 12, 2021
Hyperactive airways1Dec 30, 2014
Hypermetropia1Dec 30, 2014
Hypogonadotropic hypogonadism 7 with or without anosmia1Dec 30, 2014
Hypohidrosis1Dec 30, 2014
Hypoplasia of the corpus callosum1Dec 30, 2014
Hypotonia5Dec 30, 2014
Inborn mitochondrial myopathy1Dec 6, 2015
Infantile epilepsy1Dec 30, 2014
Infantile hypophosphatasia1Sep 12, 2021
Infantile nephronophthisis2Sep 12, 2021
Infertility disorder1Dec 30, 2014
Inherited oocyte maturation defect1Feb 2, 2020
Intellectual disability12Dec 30, 2014
Intellectual disability, profound1Dec 30, 2014
Intellectual disability, severe1Dec 30, 2014
Intellectual disability-strabismus syndrome1Dec 30, 2014
Interstitial lung disease due to ABCA3 deficiency1Sep 12, 2021
Intractable seizure2Dec 30, 2014
Iron deposition in globus pallidus1Dec 30, 2014
Johanson-Blizzard syndrome1Sep 12, 2021
Joubert syndrome 132Sep 12, 2021
Joubert syndrome 161Dec 13, 2019
Joubert syndrome 172Dec 13, 2019
Joubert syndrome 221Dec 13, 2019
Joubert syndrome 261Dec 13, 2019
Joubert syndrome 32Dec 13, 2019
Joubert syndrome 61Dec 13, 2019
Joubert syndrome and related disorders7Oct 2, 2016
Junctional epidermolysis bullosa gravis of Herlitz2Sep 12, 2021
Junctional epidermolysis bullosa with pyloric atresia1Sep 12, 2021
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke1Apr 14, 2015
Larsen-like syndrome, B3GAT3 type3Sep 12, 2021
Lethal congenital contracture syndrome 71Sep 12, 2021
Lethal multiple pterygium syndrome3Sep 12, 2021
Leukodystrophy1Dec 30, 2014
Light complexion1Dec 30, 2014
Lissencephaly1Dec 30, 2014
Lobar holoprosencephaly1Sep 17, 2021
Lumbosacral myelomeningocele1Dec 30, 2014
Macrocephaly1Dec 30, 2014
Marked Hypotonia1Dec 30, 2014
Meckel syndrome, type 12Sep 12, 2021
Meckel syndrome, type 111Sep 12, 2021
Meckel syndrome, type 33Sep 12, 2021
Meckel syndrome, type 62Dec 13, 2019
Meckel syndrome, type 81Dec 13, 2019
Meckel-Gruber syndrome17Dec 13, 2019
Meckel-like syndrome2Sep 12, 2021
Megacystis, microcolon, hypoperistalsis syndrome1Sep 12, 2021
Microcephalic osteodysplastic primordial dwarfism type II1May 8, 2014
Microcephaly9Dec 30, 2014
Microcephaly 5, primary, autosomal recessive1Sep 12, 2021
Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome4Jul 3, 2019
Micrognathia1Dec 30, 2014
Microphthalmia, isolated, with coloboma1Dec 30, 2014
Mild obesity1Dec 30, 2014
Mitochondrial encephalomyopathy3Dec 30, 2014
Mucolipidosis type II1Sep 12, 2021
Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome1Dec 13, 2019
Multiple acyl-CoA dehydrogenase deficiency2Sep 12, 2021
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 41Sep 12, 2021
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 71Sep 12, 2021
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A12Sep 12, 2021
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A131Sep 12, 2021
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A51Dec 13, 2019
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 81Sep 12, 2021
Nemaline myopathy1Dec 30, 2014
Nemaline myopathy 22Sep 12, 2021
Neonatal death5Dec 30, 2014
Nephronophthisis 121Dec 13, 2019
Nephronophthisis 131Dec 13, 2019
Nephronophthisis 191Dec 13, 2019
Nephronophthisis 201Dec 13, 2019
Nephronophthisis 31Dec 13, 2019
Nephrotic syndrome, type 191Sep 12, 2021
Neurodegeneration4Dec 30, 2014
Neurodegeneration with brain iron accumulation1Dec 30, 2014
Neurodegeneration with brain iron accumulation 2B1Sep 12, 2021
Neurodegenerative illness progressing to crippling dystonia and death with relentless cerebral atrophy1Dec 30, 2014
Neurodegeration1Dec 30, 2014
Neuronal ceroid lipofuscinosis 71Sep 12, 2021
Non-immune hydrops fetalis29Sep 12, 2021
Noonan-like facies1Dec 30, 2014
Nystagmus2Dec 30, 2014
Optic atrophy2Dec 30, 2014
Orofacial-digital syndrome III3Oct 2, 2016
Orofaciodigital syndrome2Jun 10, 2021
Pectus excavatum1Dec 30, 2014
Peroxisome biogenesis disorder 1A (Zellweger)2Sep 12, 2021
Peroxisome biogenesis disorder 3A (Zellweger)1Sep 12, 2021
Pleural effusion1Dec 30, 2014
Polycystic kidney disease2Dec 13, 2019
Polycystic kidney disease, adult type1Dec 13, 2019
Pontocerebellar hypoplasia type 1A1Sep 12, 2021
Preimplantation embryonic lethality 11Feb 2, 2020
Preimplantation lethality1Feb 2, 2020
Primary ciliary dyskinesia 291Feb 2, 2020
Primary ciliary dyskinesia 71Feb 2, 2020
Primary microcephaly12Dec 6, 2015
Profound global developmental delay3Sep 12, 2021
Progressive limb weakness1Dec 30, 2014
Progressive microcephaly2Jul 15, 2021
Progressive myoclonic epilepsy type 31Sep 12, 2021
Proptosis1Dec 30, 2014
Ptosis1Dec 30, 2014
Pulmonic stenosis1Dec 30, 2014
Pyridoxal phosphate-responsive seizures1Sep 12, 2021
Pyruvate dehydrogenase E1-alpha deficiency1Sep 12, 2021
Pyruvate dehydrogenase E2 deficiency1Sep 12, 2021
Radial dysplasia1Sep 12, 2021
Recurrent spontaneous abortion6Feb 2, 2020
Regression of motor development with severe dystonia and corresponding basal ganglia lesions1Dec 30, 2014
Renal agenesis1Sep 12, 2021
Renal tubular dysgenesis3Sep 12, 2021
Respiratory failure1Sep 12, 2021
Rhizomelic chondrodysplasia punctata type 21Sep 12, 2021
Scoliosis1Dec 30, 2014
Seckel syndrome 21May 8, 2014
Seizure17Dec 30, 2014
Senior-Loken syndrome 81Sep 12, 2021
Severe brain malformation2Dec 30, 2014
Severe cerebellar hypoplasia1Dec 30, 2014
Severe cystic degeneration of the brain1Dec 30, 2014
Severe dystonia1Dec 30, 2014
Severe global developmental delay1Dec 30, 2014
Severe hydrocephalus1Dec 30, 2014
Severe microlissencephaly1Dec 30, 2014
Severe primary microcephaly1Dec 30, 2014
Severe short-limb dwarfism1Sep 12, 2021
Short-rib thoracic dysplasia 8 with or without polydactyly2Dec 13, 2019
Sialic acid storage disease, severe infantile type2Sep 12, 2021
Slightly reduced reflexes2Dec 30, 2014
Slurred speech2Dec 30, 2014
Spastic diplegia1Dec 30, 2014
Spastic paraplegia2Dec 30, 2014
Spastic tetraplegia1Dec 30, 2014
Spasticity-ataxia-gait anomalies syndrome1Sep 12, 2021
Specific granule deficiency 21Sep 12, 2021
Spinal muscular atrophy with congenital bone fractures 21Sep 12, 2021
Spondylocostal dysostosis 3, autosomal recessive1Sep 12, 2021
Spondylometaphyseal dysplasia, Sedaghatian type1Sep 12, 2021
Strabismus2Dec 30, 2014
Truncal obesity1Dec 30, 2014
Typical Joubert syndrome MRI findings3Dec 30, 2014
Ulnar-mammary syndrome1Dec 4, 2018
VPS25-related neurodevelopmental delay3Dec 17, 2023
Ventral septal defect1Dec 30, 2014
Vici syndrome1Sep 12, 2021
Waddling gait1Dec 30, 2014
Woodhouse-Sakati syndrome2Jun 8, 2024
X-linked congenital hemolytic anemia1Sep 12, 2021
Xeroderma pigmentosum, group G1Sep 12, 2021
marked facial dysmorphism2Jul 15, 2021
not provided362May 1, 2024
not specified35Oct 3, 2016