Intellectual disability, autosomal dominant 9

MONDO:0013656

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: KIF1A autosomal dominant non-syndromic intellectual disability, MRD9, NESCAV syndrome, autosomal dominant non-syndromic intellectual disability caused by mutation in KIF1A, intellectual disability, autosomal dominant 9, intellectual disability, autosomal dominant type 9, mental retardation, autosomal dominant type 9, autosomal dominant non-syndromic intellectual disability 9

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↑ Intellectual disability, autosomal dominant (23) ↑ KIF1A related neurological disorder (0)

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