GenTIGSA Gene Database on Rare Genetic Disorders

Lists of Rare Genetic Disorders  

Intellectual Developmental Disorder 62(Mental retardation, autosomal dominant 62)      Explore Disorder's Alias
An Autosomal dominant 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 DLG4/1742 discs large MAGUK scaffold protein 4 17p13.1 Chr17, NC_000017.11
(7187187..7220050, complement)
32864 nt 25 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