Intellectual disability, autosomal dominant 9
Intellectual disability, 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.
Also known as autosomal dominant non-syndromic intellectual disability caused by mutation in KIF1A, intellectual disability, autosomal dominant 9, intellectual disability, autosomal dominant type 9, KIF1A autosomal dominant non-syndromic intellectual disability, mental retardation, autosomal dominant type 9, MRD9, NESCAV syndrome — per MONDO