Mondo Description 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.

Uniprot Description A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period.

Disease Ontology Description An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of KIF1A on chromosome 2q37.3.