spinocerebellar ataxia 46

Term ID

DOID:0080288

Synonyms

Definition

An autosomal dominant cerebellar ataxia that has_material_basis_in heterozygous mutation in the PLD3 gene on chromosome 19q13. https://pubmed.ncbi.nlm.nih.gov/29053796/

References

• MIM:617770

Ontology

Human Disease   ( DOID:0080288 )