Term Name: | autosomal recessive spinocerebellar ataxia 18 |
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Synonyms: | SCAR18 |
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. |
Ontology: | Human Disease [DOID:0080042] ( DOID:0080042 ) |