Term Name: | autosomal recessive spinocerebellar ataxia 13 |
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Synonyms: | SCAR13 |
Definition: | An autosomal recessive cerebellar ataxia that is characterized by delayed psychomotor development beginning in infancy and that has_material_basis_in homozygous mutation in the GRM1 gene on chromosome 6q24. |
Ontology: | Human Disease [DOID:0080062] ( DOID:0080062 ) |