autosomal recessive spinocerebellar ataxia 22

Term ID

DOID:0111614

Synonyms

• SCAR22

Definition

An autosomal recessive cerebellar ataxia that has_material_basis_in homozygous or compound heterozygous mutation in the VWA3B gene on chromosome 2q11.2. https://www.ncbi.nlm.nih.gov/pubmed/26157035

References

• OMIM:616948

Ontology

Human Disease   ( DOID:0111614 )