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Intellectual disability, autosomal dominant 9
rareAn 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.
- Identifiers
- MONDO:0013656 OMIM:614255Orphanet:662367
- Causal genes
- KIF1A
- Also known as
- autosomal dominant non-syndromic intellectual disability caused by mutation in KIF1A · intellectual disability, autosomal dominant type 9 · KIF1A autosomal dominant non-syndromic intellectual disability · mental retardation, autosomal dominant 9 · mental retardation, autosomal dominant type 9
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