intellectual disability, autosomal dominant 9
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.
MONDO:0100172
intellectual disability, autosomal dominant
is_a
MONDO:0700055
KIF1A related neurological disorder
is_a
KIF1A autosomal dominant non-syndromic intellectual disability
exact
MRD9
exact
NESCAV syndrome
exact
autosomal dominant non-syndromic intellectual disability caused by mutation in KIF1A
exact
intellectual disability, autosomal dominant 9
exact
intellectual disability, autosomal dominant type 9
exact
mental retardation, autosomal dominant 9
related
mental retardation, autosomal dominant type 9
exact
SPAC144.14