Metadata | |
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ID | DOID:0080062 |
Name | autosomal recessive spinocerebellar ataxia 13 |
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. https://www.ncbi.nlm.nih.gov/pubmed/22901947 |
Xrefs | |
Synonyms |
SCAR13 [EXACT] |
Parent Relationships |