autosomal recessive spinocerebellar ataxia 17

Term ID

DOID:0080064

Synonyms

• SCAR17

Definition

An autosomal recessive cerebellar ataxia that has_material_basis_in homozygous mutation in the CWF19L1 gene on chromosome 10q24. https://www.ncbi.nlm.nih.gov/pubmed/26197978

References

• OMIM:616127

Ontology

Human Disease   ( DOID:0080064 )