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Human Disease

autosomal recessive spinocerebellar ataxia 16

Term ID
DOID:0080029
Synonyms
  • SCAR16
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
References
Ontology
Human Disease   ( DOID:0080029 )
Relationships
is a type of
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Genes Involved
Zebrafish Models