Metadata | |
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ID | DOID:0080029 |
Name | autosomal recessive spinocerebellar ataxia 16 |
Definition | An autosomal recessive cerebellar ataxia that is characterized by truncal and limb ataxia resulting in gait instability and that has_material_basis_in homozygous or compound heterozygous mutation in the STUB1 gene on chromosome 16p13. https://www.ncbi.nlm.nih.gov/pubmed/24113144 |
Xrefs | |
Synonyms |
SCAR16 [EXACT] |
Parent Relationships |