GenTIGSA Gene Database on Rare Genetic Disorders

Lists of Rare Genetic Disorders  

Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Intellectual Disability(Chorioretinal dysplasia-microcephaly-intellectual disability syndrome)      Explore Disorder's Alias
An Autosomal dominant mode(s) within the Multisystemic disorders category
Reported Pathogenic variants
Candidate Gene Information
S.No. Name/GeneID Description Cytogentic Band Gene Location on genomic DNA Gene Length Exons Details Gene Cross-References
1 KIF11/3832 kinesin family member 11 10q23.33 Chr10, NC_000010.11
(92593130..92655395)
62266 nt 22 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

Variant Information    
Disorder Cross-References:      Orphanet          OMIM          GARD          GTR          MedGen          MalaCards          EMBL-EBI OLS    Monarch Initiative          NORD     

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Clinical Symptoms & Disabilities