autosomal recessive spinocerebellar ataxia 18 (DOID:0080042)
Alliance: disease page
Synonyms: SCAR18
Alt IDs: OMIM:616204
Definition: An autosomal recessive cerebellar ataxia that is characterized by delayed psychomotor development, severely impaired gait due to cerebellar ataxia, ocular movement abnormalities, and intellectual disability and that has_material_basis_in homozygous mutation in the GRID2 gene on chromosome 4q22.