Term Name: | NESCAV syndrome |
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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 ) |