Intellectual Developmental Disorder, Autosomal Dominant 9

**Semantic type:** Disease or Syndrome

**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.

**Synonyms:** - MRD9 - Mental Retardation, Autosomal Dominant 9 - NESCAV Syndrome