Term Name: NESCAV syndrome
Synonyms: autosomal dominant intellectual disability 9, autosomal dominant mental retardation 9, autosomal dominant non-syndromic intellectual disability 9, MRD9, NESCAVS, neurodegeneration and spasticity with or without cerebellar atrophy or cortical visual impairment
Definition: An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the KIF1A gene on chromosome 2q37.3.
Ontology: Human Disease [DOID:0070039]   ( DOID:0070039 )

Relationships
is a type of: autosomal dominant intellectual developmental disorder