GenTIGSA Gene Database on Rare Genetic Disorders

Lists of Rare Genetic Disorders  

Lissencephaly 7 With Cerebellar Hypoplasia(LIS7)      Explore Disorder's Alias
An Autosomal recessive mode(s) within the Neurodevelopmental 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 CDK5/1020 cyclin dependent kinase 5 7q36.1 Chr7, NC_000007.14
(151053815..151057897, complement)
4083 nt 12 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

Variant Information             Highlighted rows indicate variants are reported from India
Disorder Cross-References:      OMIM          GARD          GTR          MedGen          MalaCards          EMBL-EBI OLS    Monarch Initiative          NORD     

Patient care services
Clinical Symptoms & Disabilities