Developmental Genetics Unit (King Faisal Specialist Hospital & Research Centre), DGU-KFSHRC

General information

Developmental Genetics Unit, DGU-KFSHRC
King Faisal Specialist Hospital & Research Centre
MBC 03
PO Box 3354
Riyadh
Saudi Arabia - 11211

Organization ID: 500184

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 659

Gene

GeneSubmissionsLast Updated
ABAT1Apr 14, 2015
ABCA44Apr 14, 2015
ABCB41Apr 14, 2015
ABCC21Apr 14, 2015
ABCC94Oct 3, 2016
ABHD121Apr 14, 2015
ACE1Dec 13, 2019
ACTB1Apr 14, 2015
ACTN21Apr 14, 2015
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
ALS21Apr 14, 2015
AMPD21Dec 30, 2014
ANK23Apr 14, 2015
ANKRD11Apr 14, 2015
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
ASPM2Apr 14, 2015
ASXL13Oct 3, 2016
ATL11Apr 14, 2015
ATN11Apr 14, 2015
ATP2B31Oct 3, 2016
ATRX1Apr 14, 2015
B4GALT71Nov 8, 2016
B4GAT11Dec 30, 2014
B9D11Oct 2, 2016
BAAT1Apr 14, 2015
BAG31Apr 14, 2015
BBIP11Dec 13, 2019
BBS15Dec 13, 2019
BBS101Oct 2, 2016
BBS25Dec 13, 2019
BBS44Oct 2, 2016
BBS54Oct 2, 2016
BBS72Dec 13, 2019
BBS95Oct 2, 2016
BLM1Apr 14, 2015
BRCA22Oct 3, 2016
C12orf41Dec 30, 2014
C12orf571Dec 30, 2014
C19orf121Dec 30, 2014
C1QTNF52Apr 14, 2015
C1orf1051Apr 14, 2015
CACNA1C1Apr 14, 2015
CACNA1F2Oct 3, 2016
CACNA1G2Apr 14, 2015
CAPN33Apr 14, 2015
CBX31Feb 2, 2020
CC2D2A3Dec 13, 2019
CCDC1721Dec 13, 2019
CCDC681Feb 2, 2020
CCDC88C1Apr 14, 2015
CCDC961Dec 13, 2019
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
CFTR1Apr 14, 2015
CFTR-AS11Apr 14, 2015
CHAF1B1Dec 30, 2014
CHD72Oct 3, 2016
CHM1Apr 14, 2015
CHRNA11Apr 14, 2015
CHRNG1Apr 14, 2015
CLHC11Dec 30, 2014
CNGA33Apr 14, 2015
CNNM41Apr 14, 2015
COG61Dec 30, 2014
COL11A22Nov 2, 2016
COL18A12Apr 14, 2015
COL1A14Apr 14, 2015
COL1A21Apr 14, 2015
COL2A11Apr 14, 2015
COL4A31Apr 14, 2015
COL4A43Apr 14, 2015
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
CRX2Apr 14, 2015
CRYBA11Apr 14, 2015
CRYGC1Apr 14, 2015
CRYGD1Apr 14, 2015
CSPP11Dec 30, 2014
CTSA1Apr 14, 2015
CTSD1Dec 30, 2014
CTU24Jul 3, 2019
CUL75Apr 14, 2015
CYBB1Oct 3, 2016
CYP27A12Apr 14, 2015
CYP2U12Dec 30, 2014
DCAF173Apr 14, 2015
DCDC21Dec 13, 2019
DCLRE1C2Apr 14, 2015
DDHD21Dec 30, 2014
DDX39A1Apr 14, 2015
DEUP11Dec 13, 2019
DIAPH11Dec 30, 2014
DLL31Apr 14, 2015
DMBX11Dec 30, 2014
DMD2Apr 14, 2015
DNA21Dec 30, 2014
DNAH111Feb 2, 2020
DNAH141Jun 6, 2017
DOCK61Dec 30, 2014
DOCK81Apr 14, 2015
DPH11Dec 30, 2014
DSG22Apr 14, 2015
DSG2-AS11Apr 14, 2015
DSP1Apr 14, 2015
DYM5Apr 14, 2015
DYNC2H11Oct 2, 2016
DYNC2I12Dec 13, 2019
DYNLT2B1Oct 2, 2016
DYSF3Apr 14, 2015
EBP1Apr 14, 2015
ECEL12Apr 14, 2015
EFEMP11Oct 3, 2016
EHMT12Apr 14, 2015
EOGT1Dec 30, 2014
EP3001Apr 14, 2015
EPB41L4A1Dec 30, 2014
EPHA21Apr 14, 2015
ERCC81Apr 14, 2015
ETFA1Dec 13, 2019
EVC3Dec 13, 2019
EVC21Dec 30, 2014
EXOC3L21Oct 2, 2016
EXOC41Dec 30, 2014
EXT11Apr 14, 2015
EYS1Apr 14, 2015
FAM120AOS1Dec 30, 2014
FAM149B11Dec 13, 2019
FAM166B1Dec 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
FKBP102Apr 14, 2015
FKRP2Dec 13, 2019
FKTN2Apr 14, 2015
FLG1Oct 3, 2016
FLVCR21Apr 14, 2015
FOXG11Apr 14, 2015
FRAS12Apr 14, 2015
FSHR1Feb 2, 2020
FZD61Apr 14, 2015
GAA1Oct 3, 2016
GAL3ST21May 10, 2015
GALNT141Apr 14, 2015
GATAD11Apr 14, 2015
GBA21Apr 14, 2015
GCNT21Apr 14, 2015
GDAP12Apr 14, 2015
GDF31Apr 14, 2015
GEMIN41Dec 30, 2014
GHRHR1Apr 14, 2015
GIGYF21Apr 14, 2015
GM2A1Dec 30, 2014
GNB51Aug 27, 2016
GNS1Apr 14, 2015
GPR1791Apr 14, 2015
GUCY2D2Apr 14, 2015
GUSB5Apr 14, 2015
H6PD1Oct 3, 2016
HEPACAM1Apr 14, 2015
HPS11Apr 14, 2015
HSD17B42Apr 14, 2015
HSD3B71Apr 14, 2015
HUWE11Oct 3, 2016
IFT1223Oct 2, 2016
IFT1401Oct 2, 2016
IGF11May 8, 2014
IL7R2Apr 14, 2015
IMPG25Oct 3, 2016
INO802Dec 30, 2014
INVS1Dec 13, 2019
ISCA21Dec 30, 2014
JAK32Apr 14, 2015
KAAG11Dec 13, 2019
KATNIP2Dec 13, 2019
KCNE21Apr 14, 2015
KCNH21Apr 14, 2015
KCNJ131Apr 14, 2015
KCTD31Dec 30, 2014
KIAA05862Oct 2, 2016
KIAA11091Dec 30, 2014
KIF1A1Apr 14, 2015
KIF71Dec 13, 2019
KLHL411Dec 30, 2014
KMT2A1Apr 14, 2015
KMT2D1Apr 14, 2015
KNL11Apr 14, 2015
KRT831Apr 14, 2015
L1CAM1Apr 14, 2015
LACC11May 10, 2015
LAMA22Apr 14, 2015
LAMB22Apr 14, 2015
LAMB31Apr 14, 2015
LARGE11Apr 14, 2015
LARS21Apr 14, 2015
LCA51Apr 14, 2015
LDB31Apr 14, 2015
LIFR1Apr 14, 2015
LMNA2Oct 13, 2015
LOC1001299311Dec 13, 2019
LOC1005074432Apr 14, 2015
LOC1019288611Dec 30, 2014
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
MGAT21Dec 30, 2014
MKS15Dec 13, 2019
MLPH2Apr 14, 2015
MMP21Apr 14, 2015
MRI11Dec 30, 2014
MTR1Dec 30, 2014
MTSS21Dec 30, 2014
MYBPC32Apr 14, 2015
MYH61Apr 14, 2015
MYL31Apr 14, 2015
MYO7A2Apr 14, 2015
MYOCD1Dec 30, 2014
MYOM11Apr 14, 2015
MYPN1Apr 14, 2015
MZT2B1Dec 30, 2014
NDE11Oct 3, 2016
NDUFS11Apr 14, 2015
NEB1Apr 14, 2015
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-ACAD112Dec 13, 2019
NPHP43Apr 14, 2015
NPHS11Apr 14, 2015
NR2E35Apr 14, 2015
NSD12Apr 14, 2015
NTRK11Apr 14, 2015
NUP1071Dec 30, 2014
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
PDPR1Nov 13, 2019
PEX13Apr 14, 2015
PEX122Apr 14, 2015
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
PLA2G61Dec 30, 2014
PLK11Feb 2, 2020
PLP11Apr 14, 2015
PNKP1Dec 30, 2014
POC1A1Dec 30, 2014
POMGNT21Dec 30, 2014
POMT21Apr 14, 2015
POU4F31Apr 14, 2015
PROM11Apr 14, 2015
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
REXO41Feb 2, 2020
RFXANK1Apr 14, 2015
RGS91Apr 14, 2015
RIPK41Oct 3, 2016
RLBP12Apr 14, 2015
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
SETX1Dec 30, 2014
SFTPB1Oct 3, 2016
SGCA1Apr 14, 2015
SLC13A51Dec 30, 2014
SLC16A121Apr 14, 2015
SLC17A51Apr 14, 2015
SLC19A11Apr 14, 2015
SLC25A191Apr 14, 2015
SLC25A421Dec 6, 2015
SLC4A41Apr 14, 2015
SMAD41Apr 14, 2015
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
SYNE21Apr 14, 2015
SYNGAP11Apr 14, 2015
TAF61Dec 30, 2014
TASP11Jun 7, 2019
TBCK1Dec 30, 2014
TBX31Dec 4, 2018
TCOF11Apr 14, 2015
TCTN11Dec 30, 2014
TCTN23Dec 13, 2019
TGM11Apr 14, 2015
THSD12Apr 14, 2015
TJP21Apr 14, 2015
TLE61Feb 2, 2020
TLL11Sep 17, 2019
TMEM1382Dec 13, 2019
TMEM171Dec 13, 2019
TMEM2312Oct 2, 2016
TMEM2371Dec 30, 2014
TMEM2561Oct 2, 2016
TMEM256-PLSCR31Oct 2, 2016
TMEM674Dec 13, 2019
TMEM921Dec 30, 2014
TNFRSF11B2Apr 14, 2015
TOGARAM11Dec 13, 2019
TRAPPC31Oct 2, 2016
TRAPPC91Apr 14, 2015
TRMT11Apr 14, 2015
TRPM11Apr 14, 2015
TSEN151Dec 30, 2014
TTC21B1Dec 13, 2019
TTC231Dec 13, 2019
TTC261Dec 13, 2019
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
UBE3B1Apr 14, 2015
UBN11Apr 14, 2015
UBR11Apr 14, 2015
UNC803Dec 6, 2015
UPK3A1Apr 14, 2015
USH2A2Oct 3, 2016
VAPB1Oct 3, 2016
VCL1Oct 3, 2016
VIPAS391Oct 3, 2016
WASHC51Apr 14, 2015
WDPCP1Dec 13, 2019
WDR193Dec 13, 2019
WDR45B1Apr 14, 2015
WDR813Apr 14, 2015
WDR931Dec 30, 2014
WFS11Oct 3, 2016
WNK11Apr 14, 2015
WWOX1Dec 30, 2014
XDH1Oct 3, 2016
XIRP11Dec 30, 2014
XRCC41May 8, 2014
YARS11Apr 14, 2015
ZDHHC244Dec 13, 2019
ZNF5262Apr 14, 2015
ZP11Feb 2, 2020

Condition

NameSubmissionsLast Updated
Abnormal facial shape9Jun 7, 2019
Abnormal glycosylation (CDG IIa)1Dec 30, 2014
Abnormality of cardiovascular system morphology2Feb 11, 2016
Abnormality of the corpus callosum1Dec 30, 2014
Abnormality of the skeletal system1Dec 30, 2014
Acrocallosal syndrome1Dec 13, 2019
Adams-Oliver syndrome2Dec 30, 2014
Alstrom syndrome2Dec 13, 2019
Ateleiotic dwarfism5Dec 30, 2014
Atrial septal defect 61Sep 17, 2019
Attention deficit hyperactivity disorder3Aug 27, 2016
Autistic spectrum disorder with isolated skills1Dec 30, 2014
Autosomal recessive polycystic kidney disease4Dec 13, 2019
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
Bilateral squint1Dec 30, 2014
Bilateral undescended testicles1Dec 30, 2014
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 palmitoyltransferase II deficiency, infantile1Dec 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 ischemia1Dec 30, 2014
Charcot-Marie-Tooth disease1Dec 30, 2014
Chronic kidney disease1Dec 30, 2014
Chronic lung disease1Dec 30, 2014
Ciliary dyskinesia, primary, 291Feb 2, 2020
Ciliary dyskinesia, primary, 71Feb 2, 2020
Ciliopathy1Oct 2, 2016
Classical primary microcephaly1Dec 30, 2014
Clubfoot1Dec 30, 2014
Coarse facial features1Dec 30, 2014
Colobomatous microphthalmia1Dec 30, 2014
Congenital cataract1Dec 30, 2014
Congenital cerebellar hypoplasia1Dec 30, 2014
Congenital microcephaly4Dec 6, 2015
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A51Dec 13, 2019
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 infancy1Dec 30, 2014
Delayed reflexes1Dec 30, 2014
Delayed speech and language development1Aug 27, 2016
Diabetes insipidus1Dec 30, 2014
Dizygotic twins1Feb 2, 2020
Dolichocephaly1Dec 30, 2014
Dysarthria2Dec 30, 2014
Dysdiadochokinesis2Dec 30, 2014
Dysmetria2Dec 30, 2014
Dysmorphism1Dec 30, 2014
Early infantile epileptic encephalopathy 211Dec 30, 2014
Early onset focal segmental glomerulosclerosis1Dec 30, 2014
Elliptical nystagmus1Dec 30, 2014
Ellis-van Creveld syndrome2Dec 13, 2019
Encephalopathy3Dec 6, 2015
Exaggerated startle response1Dec 30, 2014
Failure to thrive4Dec 30, 2014
Fetal akinesia sequence1Dec 30, 2014
Flexed deformity1Dec 30, 2014
Focal epilepsy1Dec 30, 2014
Gastroesophageal reflux1Dec 30, 2014
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
Hydranencephaly with renal aplasia-dysplasia1Dec 13, 2019
Hydrocephalus5Dec 30, 2014
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
Infantile epilepsy1Dec 30, 2014
Infantile nephronophthisis1Dec 13, 2019
Infertility1Dec 30, 2014
Intellectual disability12Dec 30, 2014
Intellectual disability, profound1Dec 30, 2014
Intellectual disability, severe1Dec 30, 2014
Intractable seizure2Dec 30, 2014
Iron deposition in globus pallidus1Dec 30, 2014
Joubert syndrome6Dec 13, 2019
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
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke1Apr 14, 2015
Leukodystrophy1Dec 30, 2014
Light complexion1Dec 30, 2014
Lissencephaly1Dec 30, 2014
Lumbosacral myelomeningocele1Dec 30, 2014
Macrocephalus1Dec 30, 2014
Marked Hypotonia1Dec 30, 2014
Meckel syndrome type 11Dec 13, 2019
Meckel syndrome type 62Dec 13, 2019
Meckel syndrome type 81Dec 13, 2019
Meckel-Gruber syndrome17Dec 13, 2019
Mental retardation, autosomal recessive 361Dec 30, 2014
Microcephalic osteodysplastic primordial dwarfism type II1May 8, 2014
Microcephaly9Dec 30, 2014
Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome4Jul 3, 2019
Micrognathia1Dec 30, 2014
Mild obesity1Dec 30, 2014
Mitochondrial encephalomyopathy3Dec 30, 2014
Mitochondrial myopathy1Dec 6, 2015
Multiple acyl-CoA dehydrogenase deficiency1Dec 13, 2019
Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects2Nov 8, 2016
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 11Dec 30, 2014
Muscular hypotonia5Dec 30, 2014
Muscular hypotonia of the trunk1Dec 30, 2014
Nemaline myopathy1Dec 30, 2014
Neonatal death5Dec 30, 2014
Nephronophthisis 121Dec 13, 2019
Nephronophthisis 131Dec 13, 2019
Nephronophthisis 191Dec 13, 2019
Nephronophthisis 201Dec 13, 2019
Nephronophthisis 31Dec 13, 2019
Neurodegeneration4Dec 30, 2014
Neurodegeneration with brain iron accumulation1Dec 30, 2014
Neurodegenerative illness progressing to crippling dystonia and death with relentless cerebral atrophy1Dec 30, 2014
Neurodegeration1Dec 30, 2014
Non-immune hydrops fetalis16Jun 6, 2017
Noonan-like facies1Dec 30, 2014
Nystagmus2Dec 30, 2014
Oocyte maturation defect1Feb 2, 2020
Oocyte maturation defect 11Feb 2, 2020
Optic atrophy2Dec 30, 2014
Orofacial-digital syndrome III3Oct 2, 2016
Orofaciodigital syndrome2Dec 13, 2019
Pectus excavatum1Dec 30, 2014
Pleural effusion1Dec 30, 2014
Polycystic kidney disease, adult type1Dec 13, 2019
Polycystic kidney dysplasia2Dec 13, 2019
Preimplantation embryonic lethality1Feb 2, 2020
Preimplantation embryonic lethality 11Feb 2, 2020
Primary microcephaly8Dec 30, 2014
Primordial dwarfism1Dec 30, 2014
Progressive limb weakness1Dec 30, 2014
Proptosis1Dec 30, 2014
Ptosis1Dec 30, 2014
Pulmonic stenosis (disease)1Dec 30, 2014
Recurrent spontaneous abortion6Feb 2, 2020
Regression of motor development with severe dystonia and corresponding basal ganglia lesions1Dec 30, 2014
Renal dysplasia2Dec 13, 2019
Sacral agenesis1Dec 30, 2014
Scoliosis1Dec 30, 2014
Seckel syndrome 21May 8, 2014
Seizure disorder2Dec 30, 2014
Seizures17Dec 30, 2014
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
Short-rib thoracic dysplasia 1 with or without polydactyly1Oct 2, 2016
Short-rib thoracic dysplasia 3 with or without polydactyly6Oct 2, 2016
Short-rib thoracic dysplasia 8 with or without polydactyly2Dec 13, 2019
Slightly reduced reflexes2Dec 30, 2014
Slurred speech2Dec 30, 2014
Spastic diplegia1Dec 30, 2014
Spastic paraplegia2Dec 30, 2014
Spastic tetraplegia1Dec 30, 2014
Strabismus2Dec 30, 2014
Three M syndrome 11May 8, 2014
Truncal obesity1Dec 30, 2014
Typical Joubert syndrome MRI findings3Dec 30, 2014
Ulnar-mammary syndrome1Dec 4, 2018
Ventral septal defect1Dec 30, 2014
Waddling gait1Dec 30, 2014
not provided368Jul 27, 2019
not specified35Oct 3, 2016
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