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

• OMIM:615768

Ontology

Human Disease   ( DOID:0080029 )