NESCAV syndrome (DOID:0070039)
Alliance: disease page
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
Alt IDs: OMIM:614255, NCI:C133742, UMLS_CUI:C3280283
Definition: An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the KIF1A gene on chromosome 2q37.3.