ClinVar Miner

Variants from Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre

Location: Saudi Arabia — Primary collection method: research
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If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign total
32 484 9 28 1 548

Gene and significance breakdown #

Total genes and gene combinations: 402
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
TTN 0 19 0 2 0 21
ALMS1 0 5 0 0 0 5
DYM 0 5 0 0 0 5
GUSB 0 5 0 0 0 5
IMPG2 0 4 0 1 0 5
NR2E3 0 5 0 0 0 5
ABCA4 0 4 0 0 0 4
ABCC9 0 3 0 1 0 4
BBS4 3 1 0 0 0 4
BBS9 4 1 0 0 0 4
CEP290 2 2 0 0 0 4
COL1A1 0 4 0 0 0 4
CUL7 1 4 0 0 0 4
PDE6C 0 4 0 0 0 4
RTTN 0 4 0 0 0 4
ANK2 0 3 0 0 0 3
ASXL1 0 2 0 1 0 3
BBS2 1 2 0 0 0 3
BBS5 0 3 0 0 0 3
CAPN3 0 3 0 0 0 3
CDHR1 0 3 0 0 0 3
CNGA3 0 3 0 0 0 3
COL4A4 0 3 0 0 0 3
CRB1 0 3 0 0 0 3
DCAF17 0 3 0 0 0 3
DYSF 0 3 0 0 0 3
MERTK 0 3 0 0 0 3
MKS1 2 2 0 0 0 3
NPHP4 0 3 0 0 0 3
RAG2 0 3 0 0 0 3
RYR2 0 2 1 0 0 3
TMEM67 0 3 0 0 0 3
UNC80 0 3 0 0 0 3
AGRN 0 0 0 2 0 2
ARFGEF2 0 2 0 0 0 2
ARID1B 0 1 0 1 0 2
ARL13B 0 2 0 0 0 2
ASPM 0 2 0 0 0 2
BBS1, ZDHHC24 2 0 0 0 0 2
BRCA2 1 0 0 1 0 2
C1QTNF5, MFRP 0 2 0 0 0 2
CACNA1F 0 0 0 2 0 2
CD40LG 0 2 0 0 0 2
CDH23 0 2 0 0 0 2
CHD7 0 1 0 1 0 2
COL11A2 0 1 1 0 0 2
COQ8A 0 2 0 0 0 2
CRIPT 2 0 0 0 0 2
CRX 0 2 0 0 0 2
DCLRE1C 0 2 0 0 0 2
DMD 0 2 0 0 0 2
DSG2 0 2 0 0 0 2
ECEL1 0 2 0 0 0 2
FKBP10 0 2 0 0 0 2
FKTN 0 2 0 0 0 2
FRAS1 0 2 0 0 0 2
GDAP1 0 2 0 0 0 2
GUCY2D 0 2 0 0 0 2
HSD17B4 0 2 0 0 0 2
IFT122 1 2 0 0 0 2
IL7R 0 2 0 0 0 2
INO80 0 2 0 0 0 2
JAK3 0 2 0 0 0 2
KIAA0586 1 1 0 0 0 2
LAMA2 0 2 0 0 0 2
LAMB2 0 2 0 0 0 2
MCPH1 0 2 0 0 0 2
MLPH 0 2 0 0 0 2
MYBPC3 0 2 0 0 0 2
MYO7A 0 2 0 0 0 2
NFIX 0 2 0 0 0 2
NOTCH1 0 2 0 0 0 2
NSD1 0 2 0 0 0 2
PCNT 1 2 0 0 0 2
PEX1 0 2 0 0 0 2
PEX12 0 2 0 0 0 2
RAG1 0 2 0 0 0 2
RLBP1 0 2 0 0 0 2
RP1 0 2 0 0 0 2
SMG9 0 2 0 0 0 2
SOS1 0 2 0 0 0 2
SPART 0 2 0 0 0 2
TCTN2 0 2 0 0 0 2
THSD1 0 2 0 0 0 2
TMEM231 1 1 0 0 0 2
TNFRSF11B 0 2 0 0 0 2
TULP1 0 2 0 0 0 2
TXNDC15 0 2 0 0 0 2
USH2A 0 1 0 1 0 2
WDR19 0 2 0 0 0 2
WDR81 0 2 0 0 0 2
ABAT 0 1 0 0 0 1
ABCB4 0 1 0 0 0 1
ABCC2 0 1 0 0 0 1
ABHD12 0 1 0 0 0 1
ACTB 0 1 0 0 0 1
ACTN2 0 1 0 0 0 1
ADAT3, SCAMP4 0 1 0 0 0 1
ADK 0 1 0 0 0 1
ADRA2B 0 1 0 0 0 1
AHI1 0 1 0 0 0 1
AICDA 0 1 0 0 0 1
AIPL1 0 1 0 0 0 1
AK2 0 1 0 0 0 1
ALDH18A1 0 1 0 0 0 1
ALDH3A2 0 1 0 0 0 1
ALS2 0 1 0 0 0 1
AMPD2 0 1 0 0 0 1
ANKRD1 0 1 0 0 0 1
AP4M1 0 1 0 0 0 1
ARHGEF6 0 0 1 0 0 1
ARL14EP 0 1 0 0 0 1
ARL6 0 1 0 0 0 1
ARV1 0 1 0 0 0 1
ASAH1 0 1 0 0 0 1
ATL1 0 1 0 0 0 1
ATN1 0 1 0 0 0 1
ATP2B3 0 0 1 0 0 1
ATRX 0 1 0 0 0 1
B4GALT7 0 1 0 0 0 1
B4GAT1 0 1 0 0 0 1
B9D1 0 1 0 0 0 1
BAAT 0 1 0 0 0 1
BAG3 0 1 0 0 0 1
BBS10 1 0 0 0 0 1
BLM 0 1 0 0 0 1
C12orf4 0 1 0 0 0 1
C12orf57 0 1 0 0 0 1
C19orf12 0 1 0 0 0 1
C1orf105, PIGC 0 1 0 0 0 1
CACNA1C 0 1 0 0 0 1
CACNA1G 0 1 0 0 0 1
CC2D2A 0 1 0 0 0 1
CCDC88C 0 1 0 0 0 1
CD247 0 0 1 0 0 1
CDK5RAP2 0 1 0 0 0 1
CELSR2 0 1 0 0 0 1
CENPJ 0 1 0 0 0 1
CEP57 0 1 0 0 0 1
CERKL 0 1 0 0 0 1
CFTR 0 1 0 0 0 1
CHAF1B 0 1 0 0 0 1
CHM 0 1 0 0 0 1
CHRNA1 0 1 0 0 0 1
CHRNG 0 1 0 0 0 1
CLHC1 0 1 0 0 0 1
CNNM4 0 1 0 0 0 1
COG6 0 1 0 0 0 1
COL18A1 0 1 0 0 0 1
COL18A1, SLC19A1 0 1 0 0 0 1
COL1A2 0 1 0 0 0 1
COL2A1 0 1 0 0 0 1
COL4A3, LOC654841 0 1 0 0 0 1
COL4A6 0 1 0 0 0 1
COL6A1 0 1 0 0 0 1
COL6A2 0 1 0 0 0 1
COL6A3 0 1 0 0 0 1
COL7A1 0 1 0 0 0 1
COLEC11 0 0 1 0 0 1
CPA6 0 1 0 0 0 1
CPLANE1 0 1 0 0 0 1
CREBBP 0 1 0 0 0 1
CRYBA1 0 1 0 0 0 1
CRYGC, LOC100507443 0 1 0 0 0 1
CRYGD, LOC100507443 0 1 0 0 0 1
CSPP1 0 1 0 0 0 1
CTSA 0 1 0 0 0 1
CTSD 0 1 0 0 0 1
CYBB 0 0 0 1 0 1
CYP27A1 0 1 0 0 0 1
CYP2U1 0 1 0 0 0 1
DDHD2 0 1 0 0 0 1
DDX39A 0 1 0 0 0 1
DIAPH1 0 1 0 0 0 1
DLL3 0 1 0 0 0 1
DMBX1 0 1 0 0 0 1
DNA2 0 1 0 0 0 1
DNAH14 0 0 0 0 1 1
DOCK6 0 1 0 0 0 1
DOCK8 0 1 0 0 0 1
DPH1 0 1 0 0 0 1
DSP 0 1 0 0 0 1
DYNC2H1 0 1 0 0 0 1
EBP 0 1 0 0 0 1
EFEMP1 0 0 0 1 0 1
EHMT1 0 1 0 0 0 1
EHMT1, LOC651337 0 1 0 0 0 1
EOGT 0 1 0 0 0 1
EP300 0 1 0 0 0 1
EPB41L4A 0 1 0 0 0 1
EPHA2 0 1 0 0 0 1
ERCC8 0 1 0 0 0 1
EVC 0 1 0 0 0 1
EVC2 0 1 0 0 0 1
EXOC3L2 0 1 0 0 0 1
EXOC4, LOC101928861 0 1 0 0 0 1
EXT1 0 1 0 0 0 1
EYS 0 1 0 0 0 1
FAM120AOS 0 1 0 0 0 1
FAM177A1 0 1 0 0 0 1
FAM20C 0 1 0 0 0 1
FAM98C 0 1 0 0 0 1
FAN1 0 1 0 0 0 1
FANCM 0 0 0 1 0 1
FARS2 0 1 0 0 0 1
FBN2 0 1 0 0 0 1
FBXL4 0 1 0 0 0 1
FKRP 0 0 0 1 0 1
FLG 0 0 0 1 0 1
FLVCR2 0 1 0 0 0 1
FOXG1 0 1 0 0 0 1
FZD6 0 1 0 0 0 1
GAA 0 0 0 1 0 1
GAL3ST2 0 1 0 0 0 1
GALNT14 0 1 0 0 0 1
GATAD1, PEX1 0 1 0 0 0 1
GBA2 0 1 0 0 0 1
GCNT2 0 1 0 0 0 1
GDF3 0 1 0 0 0 1
GEMIN4 0 1 0 0 0 1
GHRHR 0 1 0 0 0 1
GIGYF2, KCNJ13 0 1 0 0 0 1
GM2A 0 1 0 0 0 1
GNB5 0 1 0 0 0 1
GNS 0 1 0 0 0 1
GPR179 0 1 0 0 0 1
H6PD 0 0 0 1 0 1
HEPACAM 0 1 0 0 0 1
HPS1 0 1 0 0 0 1
HSD3B7 0 1 0 0 0 1
HUWE1 0 0 1 0 0 1
IFT140 0 1 0 0 0 1
IGF1 1 0 0 0 0 1
ISCA2 0 1 0 0 0 1
KCNE2 0 1 0 0 0 1
KCNH2 0 1 0 0 0 1
KCTD3 0 1 0 0 0 1
KIAA0556 0 1 0 0 0 1
KIAA1109 0 1 0 0 0 1
KIF1A 0 1 0 0 0 1
KLHL41 0 1 0 0 0 1
KMT2A 0 1 0 0 0 1
KMT2D 0 1 0 0 0 1
KNL1 0 1 0 0 0 1
KRT83 0 1 0 0 0 1
L1CAM 0 1 0 0 0 1
LACC1 0 1 0 0 0 1
LAMB3 0 1 0 0 0 1
LARGE1 0 1 0 0 0 1
LARS2 0 1 0 0 0 1
LCA5 0 1 0 0 0 1
LDB3 0 1 0 0 0 1
LIFR 0 1 0 0 0 1
LMNA 0 1 0 0 0 1
LOXHD1 0 0 0 1 0 1
LRAT 0 1 0 0 0 1
LRP5 0 1 0 0 0 1
LRPPRC 0 1 0 0 0 1
LRRCC1 0 1 0 0 0 1
LTBP2 0 1 0 0 0 1
LYST 0 1 0 0 0 1
MASP1 0 1 0 0 0 1
MATN4 0 1 0 0 0 1
MECP2 0 1 0 0 0 1
MED23 0 1 0 0 0 1
MFF 0 1 0 0 0 1
MGAT2 0 1 0 0 0 1
MMP2 0 1 0 0 0 1
MRI1 0 1 0 0 0 1
MTR 0 1 0 0 0 1
MTSS2 0 1 0 0 0 1
MYH6 0 1 0 0 0 1
MYL3 0 1 0 0 0 1
MYOCD 0 1 0 0 0 1
MYOM1 0 1 0 0 0 1
MYPN 0 1 0 0 0 1
NDE1 0 0 1 0 0 1
NDUFS1 0 1 0 0 0 1
NEB 0 1 0 0 0 1
NECAP1 0 1 0 0 0 1
NEK1 1 1 0 0 0 1
NEK4 0 1 0 0 0 1
NEK8 0 1 0 0 0 1
NHEJ1 0 1 0 0 0 1
NHS 0 1 0 0 0 1
NID1 0 1 0 0 0 1
NMNAT1 0 1 0 0 0 1
NPC2 0 1 0 0 0 1
NPHP3, NPHP3-ACAD11 1 0 0 0 0 1
NPHS1 0 1 0 0 0 1
NTRK1 0 1 0 0 0 1
NUP107 0 1 0 0 0 1
OBSL1 0 1 0 0 0 1
OCLN 0 1 0 0 0 1
OFD1 1 0 0 0 0 1
OPLAH 0 1 0 0 0 1
OPTN 0 1 0 0 0 1
OTOF 0 1 0 0 0 1
P3H1 0 1 0 0 0 1
PAX6 0 1 0 0 0 1
PCDHB4, PCDHB@ 0 1 0 0 0 1
PDGFRB 0 0 0 1 0 1
PDPR 0 1 0 0 0 1
PEX26 0 1 0 0 0 1
PEX6 0 1 0 0 0 1
PHC1 0 1 0 0 0 1
PHGDH 0 1 0 0 0 1
PIGQ 0 1 0 0 0 1
PKHD1 0 1 0 0 0 1
PKP2 0 1 0 0 0 1
PLA2G6 0 1 0 0 0 1
PLP1, RAB9B 0 1 0 0 0 1
PNKP 0 1 0 0 0 1
POC1A 0 1 0 0 0 1
POMGNT2 0 1 0 0 0 1
POMT2 0 1 0 0 0 1
POU4F3 0 1 0 0 0 1
PROM1 0 1 0 0 0 1
PRPH2 0 1 0 0 0 1
PRSS56 0 1 0 0 0 1
PTPN23 0 1 0 0 0 1
PTPRC 0 1 0 0 0 1
PTRH2 0 1 0 0 0 1
RAB3GAP1 0 1 0 0 0 1
RBBP8 1 0 0 0 0 1
RELN 0 1 0 0 0 1
RFXANK 0 1 0 0 0 1
RGS9 0 1 0 0 0 1
RIPK4 0 0 0 1 0 1
RNASEH2B 0 1 0 0 0 1
RNASEH2C 0 1 0 0 0 1
RNF216 0 1 0 0 0 1
ROR2 0 1 0 0 0 1
RP2 0 1 0 0 0 1
RPE65 0 1 0 0 0 1
RPGRIP1 0 1 0 0 0 1
RYR1 0 1 0 0 0 1
SBF1 0 1 0 0 0 1
SCARF2 0 1 0 0 0 1
SCN2A 0 1 0 0 0 1
SCN5A 0 1 0 0 0 1
SEC24D 0 1 0 0 0 1
SEPSECS 0 1 0 0 0 1
SETX 0 1 0 0 0 1
SFTPB 0 0 0 1 0 1
SGCA 0 1 0 0 0 1
SLC13A5 0 1 0 0 0 1
SLC16A12 0 1 0 0 0 1
SLC17A5 0 1 0 0 0 1
SLC25A19 0 1 0 0 0 1
SLC25A42 0 1 0 0 0 1
SLC4A4 0 1 0 0 0 1
SMAD4 0 1 0 0 0 1
SNRNP200 0 1 0 0 0 1
SPATA7 0 1 0 0 0 1
SPDL1 0 1 0 0 0 1
SPG11 0 1 0 0 0 1
SPTBN2 0 1 0 0 0 1
ST7 0 1 0 0 0 1
STAT3 0 1 0 0 0 1
STXBP1 0 1 0 0 0 1
SYNE2 0 1 0 0 0 1
SYNGAP1 0 1 0 0 0 1
TAF6 0 1 0 0 0 1
TASP1 1 0 0 0 0 1
TBCK 0 1 0 0 0 1
TBX3 1 0 0 0 0 1
TCOF1 0 1 0 0 0 1
TCTEX1D2 1 0 0 0 0 1
TCTN1 0 1 0 0 0 1
TGM1 0 1 0 0 0 1
TJP2 0 1 0 0 0 1
TMEM138 0 1 0 0 0 1
TMEM237 0 1 0 0 0 1
TMEM256, TMEM256-PLSCR3 0 1 0 0 0 1
TMEM92 0 1 0 0 0 1
TRAPPC3 0 1 0 0 0 1
TRAPPC9 0 1 0 0 0 1
TRMT1 0 1 0 0 0 1
TRPM1 0 1 0 0 0 1
TSEN15 0 1 0 0 0 1
TUBA1A 0 1 0 0 0 1
TUBA3E 0 1 0 0 0 1
TYMP 0 1 0 0 0 1
UBE3B 0 1 0 0 0 1
UBN1 0 1 0 0 0 1
UBR1 0 1 0 0 0 1
UPK3A 0 1 0 0 0 1
VAPB 0 0 0 1 0 1
VCL 0 0 0 1 0 1
VIPAS39 0 0 0 1 0 1
WASHC5 0 1 0 0 0 1
WDR45B 0 1 0 0 0 1
WDR93 0 1 0 0 0 1
WFS1 0 0 1 0 0 1
WNK1 0 1 0 0 0 1
WWOX 0 1 0 0 0 1
XDH 0 0 0 1 0 1
XIRP1 0 1 0 0 0 1
XRCC4 1 0 0 0 0 1
YARS1 0 1 0 0 0 1
ZNF526 0 1 0 0 0 1

Condition and significance breakdown #

Total conditions: 105
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 0 350 1 0 0 351
not specified 0 0 7 28 0 35
Non-immune hydrops fetalis 0 15 0 0 1 16
Bardet-Biedl syndrome 10 3 0 0 0 13
Meckel-Gruber syndrome 3 10 0 0 0 13
Joubert Syndrome and Related Disorders 3 4 0 0 0 7
Short-rib thoracic dysplasia 3 with or without polydactyly 3 3 0 0 0 6
Ateleiotic dwarfism 4 1 0 0 0 5
Congenital microcephaly 0 4 0 0 0 4
Global developmental delay; Typical Joubert syndrome MRI findings 0 4 0 0 0 4
Encephalopathy 0 3 0 0 0 3
Mitochondrial encephalomyopathy; Global developmental delay 0 3 0 0 0 3
Adams-Oliver syndrome 0 2 0 0 0 2
Cerebellar ataxia; Nystagmus; Cerebellar atrophy; Dysmetria; Slurred speech; Dysdiadochokinesis; Slightly reduced reflexes 0 2 0 0 0 2
Cranioectodermal dysplasia 1 1 0 0 0 2
Global developmental delay; Abnormality of cardiovascular system morphology; Abnormal facial shape; Brainstem dysplasia 0 2 0 0 0 2
Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects 0 1 1 0 0 2
Orofacial-digital syndrome III 1 1 0 0 0 2
Seizures; Intellectual disability 0 2 0 0 0 2
Seizures; Intellectual disability; Primary microcephaly 0 2 0 0 0 2
Abnormality of the skeletal system; Hirsutism; Abnormal facial shape; Intellectual disability, severe 0 1 0 0 0 1
Autistic spectrum disorder with isolated skills 0 1 0 0 0 1
Blindness; Neurodegeneration 0 1 0 0 0 1
Cerebellar ataxia; Dysarthria; Spastic diplegia; Neurodegeneration; Elliptical nystagmus; Progressive limb weakness 0 1 0 0 0 1
Cerebellar ataxia; Global developmental delay; Failure to thrive; Dysarthria; Microcephaly; Strabismus 0 1 0 0 0 1
Cerebellar ataxia; Global developmental delay; Hearing impairment 0 1 0 0 0 1
Charcot-Marie-Tooth disease 0 1 0 0 0 1
Ciliopathy 0 1 0 0 0 1
Classical primary microcephaly 0 1 0 0 0 1
Congenital cataract; Global developmental delay; Microcephaly; Severe dystonia 0 1 0 0 0 1
Congenital cerebellar hypoplasia; Seizures; Severe global developmental delay 0 1 0 0 0 1
Dandy-Walker syndrome; Global developmental delay; Hydrocephalus; Cerebellar vermis hypoplasia 0 1 0 0 0 1
Dandy-Walker syndrome; Talipes equinovarus; Micrognathia; Pleural effusion; Hydrocephalus; Flexed deformity 0 1 0 0 0 1
Early infantile epileptic encephalopathy 21 0 1 0 0 0 1
Exaggerated startle response; Severe microlissencephaly 0 1 0 0 0 1
Failure to thrive; Spastic paraplegia 0 1 0 0 0 1
Global developmental delay; Abnormal facial shape 0 1 0 0 0 1
Global developmental delay; Abnormal facial shape; Abnormal glycosylation (CDG IIa) 0 1 0 0 0 1
Global developmental delay; Abnormal facial shape; Brain atrophy 0 1 0 0 0 1
Global developmental delay; Abnormal facial shape; Happy demeanor 1 0 0 0 0 1
Global developmental delay; Abnormal facial shape; Microcephaly; Truncal obesity 0 1 0 0 0 1
Global developmental delay; Brain atrophy; Intractable seizure 0 1 0 0 0 1
Global developmental delay; Cerebellar atrophy; Primary microcephaly 0 1 0 0 0 1
Global developmental delay; Cerebral calcification; Primary microcephaly 0 1 0 0 0 1
Global developmental delay; Delayed speech and language development; Attention deficit hyperactivity disorder 0 1 0 0 0 1
Global developmental delay; Failure to thrive; Microcephaly; Seizure disorder 0 1 0 0 0 1
Global developmental delay; Failure to thrive; Spastic tetraplegia; Optic atrophy; Muscular hypotonia of the trunk; Death in infancy; High CSF lactic acid; Neurodegeration 0 1 0 0 0 1
Global developmental delay; Hydrocephalus; Cerebellar atrophy; Bilateral squint 0 1 0 0 0 1
Global developmental delay; Hypoplasia of the corpus callosum; Microcephaly; CNS hypomyelination; Brain atrophy 0 1 0 0 0 1
Global developmental delay; Intellectual disability; Attention deficit hyperactivity disorder 0 1 0 0 0 1
Global developmental delay; Light complexion; Early onset focal segmental glomerulosclerosis 0 1 0 0 0 1
Global developmental delay; Microcephaly; Intellectual disability; Iron deposition in globus pallidus; Muscular hypotonia 0 1 0 0 0 1
Global developmental delay; Neurodegeneration 0 1 0 0 0 1
Global developmental delay; Optic atrophy; Intractable seizure 0 1 0 0 0 1
Global developmental delay; Primary microcephaly 0 1 0 0 0 1
Global developmental delay; Seizures; Brain atrophy 0 1 0 0 0 1
Global developmental delay; Seizures; Brain malformation 0 1 0 0 0 1
Global developmental delay; Seizures; Chronic kidney disease 0 1 0 0 0 1
Global developmental delay; Seizures; Corpus callosum abnormalities; Colobomatous microphthalmia 0 1 0 0 0 1
Global developmental delay; Seizures; Hearing impairment; Hypermetropia; Strabismus; Muscular hypotonia 0 1 0 0 0 1
Global developmental delay; Seizures; Hydrocephalus 0 1 0 0 0 1
Global developmental delay; Seizures; Microcephaly; Brain atrophy 0 1 0 0 0 1
Global developmental delay; Seizures; Primary microcephaly 0 1 0 0 0 1
Global developmental delay; Seizures; Ventral septal defect; Delayed reflexes; Dysmorphism; Muscular hypotonia 0 1 0 0 0 1
Hemiparesis; Focal epilepsy; Hydrocephalus 0 1 0 0 0 1
Hereditary spastic paraplegia 0 1 0 0 0 1
Holoprosencephaly sequence; Global developmental delay; Seizures; Proptosis; Microcephaly; Diabetes insipidus; Lumbosacral myelomeningocele 0 1 0 0 0 1
Hypogonadotropic hypogonadism 7 with or without anosmia; Leukodystrophy 0 1 0 0 0 1
Infertility; Cerebello-oculo-renal syndrome (nephronophthisis, oculomotor apraxia and cerebellar abnormalities) 0 1 0 0 0 1
Insulin-like growth factor I deficiency 1 0 0 0 0 1
Intellectual disability, profound; Seizure disorder 0 1 0 0 0 1
Intellectual disability; Attention deficit hyperactivity disorder; Muscular hypotonia 0 1 0 0 0 1
Intellectual disability; Hyphidrosis 0 1 0 0 0 1
Intellectual disability; Primary microcephaly 0 1 0 0 0 1
Joubert syndrome 0 1 0 0 0 1
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke 0 1 0 0 0 1
Lissencephaly; Global developmental delay; Seizures; Primary microcephaly 0 1 0 0 0 1
Macrocephalus; Dolichocephaly; Intellectual disability; Mild obesity 0 1 0 0 0 1
Mental retardation, autosomal recessive 36 0 1 0 0 0 1
Microcephalic osteodysplastic primordial dwarfism type 2 1 0 0 0 0 1
Mitochondrial myopathy 0 1 0 0 0 1
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 0 1 0 0 0 1
Nemaline myopathy 0 1 0 0 0 1
Neonatal death; Abnormal facial shape; Cortical dysplasia; Severe brain malformation 0 1 0 0 0 1
Neonatal death; Fetal akinesia sequence; Cerebral ischemia 0 1 0 0 0 1
Neonatal death; Hydranencephaly; Severe brain malformation; Severe cerebellar hypoplasia 0 1 0 0 0 1
Neonatal death; Severe hydrocephalus 0 1 0 0 0 1
Neonatal death; Severe primary microcephaly 0 1 0 0 0 1
Neurodegeneration with brain iron accumulation 0 1 0 0 0 1
Neurodegeneration; Brain iron accummulation 0 1 0 0 0 1
Neurodegenerative illness progressing to crippling dystonia and death with relentless cerebral atrophy 0 1 0 0 0 1
Orofacial-digital syndrome III; Short-rib thoracic dysplasia 1 with or without polydactyly 0 1 0 0 0 1
Pectus excavatum; Scoliosis; Coarse facial features; Cutis laxa; Gastroesophageal reflux; Chronic lung disease; Hyperactive airways; Bilateral undescended testicles; Muscular hypotonia 0 1 0 0 0 1
Polycystic kidney dysplasia 1 0 0 0 0 1
Primordial dwarfism 0 1 0 0 0 1
Ptosis; Sacral agenesis; History of neonatal hypotonia 0 1 0 0 0 1
Pulmonic stenosis; Intellectual disability; Noonan-like facies 0 1 0 0 0 1
Regression of motor development with severe dystonia and corresponding basal ganglia lesions 0 1 0 0 0 1
Seckel syndrome 2 1 0 0 0 0 1
Seizures; Microcephaly; Intellectual disability 0 1 0 0 0 1
Severe cystic degeneration of the brain; Infantile epilepsy 0 1 0 0 0 1
Spastic paraplegia 0 1 0 0 0 1
Three M syndrome 1 1 0 0 0 0 1
Ulnar-mammary syndrome 1 0 0 0 0 1
Waddling gait; Marked Hypotonia 0 1 0 0 0 1

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