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Metadata
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

OMIM:615768

Synonyms

SCAR16 [EXACT]

Parent Relationships

is_a autosomal recessive cerebellar ataxia

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