Human genes for autosomal recessive spinocerebellar ataxia 18
Autosomal recessive spinocerebellar ataxia 18 [DOID:0080042]
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.
Synonyms: autosomal recessive spinocerebellar ataxia 18, DOID:0080042