Metadata | |
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ID | DOID:0111615 |
Name | autosomal recessive spinocerebellar ataxia 24 |
Definition | An autosomal recessive cerebellar ataxia that has_material_basis_in homozygous or compound heterozygous mutation in the UBA5 gene on chromosome 3q22.1. https://www.ncbi.nlm.nih.gov/pubmed/26872069 |
Xrefs | |
Synonyms |
SCAR24 [EXACT] |
Parent Relationships |