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autosomal recessive spinocerebellar ataxia 13
Summary
- Synonym
-
- 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.
- Super Class
- autosomal recessive cerebellar ataxia
External Links
- Disease Ontology
- DOID:0080062
- Mondo Disease Ontology
- OMIM
- MGI genotype (from TogoID)
Related Genes
