/intellectual disability, autosomal dominant 9

intellectual disability, autosomal dominant 9

Rare Disease

MONDO:0013656

Also Known As

KIF1A autosomal dominant non-syndromic intellectual disabilityMRD9NESCAV syndromeautosomal dominant intellectual disability 9autosomal dominant mental retardation 9autosomal dominant non-syndromic intellectual disability caused by mutation in KIF1Aintellectual disability, autosomal dominant 9intellectual disability, autosomal dominant type 9mental retardation, autosomal dominant type 9autosomal dominant non-syndromic intellectual disability 9mental retardation, autosomal dominant 9

Definition

An autosomal dominant condition caused by mutation(s) in the KIF1A gene, encoding kinesin-like protein KIF1A. It is characterized by microcephaly, intellectual disability, and delayed psychomotor development. The condition is progressive, occurs in early infancy, and is of variable severity.