autosomal recessive spinocerebellar ataxia 24

Term ID

DOID:0111615

Synonyms

• SCAR24

Definition

An autosomal recessive cerebellar ataxia that has_material_basis_in homozygous or compound heterozygous mutation in the UBA5 gene on chromosome 3q22.1. https://www.ncbi.nlm.nih.gov/pubmed/26872069

References

• OMIM:617133

Ontology

Human Disease   ( DOID:0111615 )