cerebellar ataxia type 47

Term ID

DOID:0111743

Synonyms

• SCA47

Definition

An autosomal dominant cerebellar ataxia characterized by adult onset of slowly progressive cerebellar ataxia or in some cases earlier onset of ataxia accompanied by delayed motor development and short stature that has_material_basis_in heterozygous mutation in the PUM1 gene on chromosome 1p35.2. https://www.ncbi.nlm.nih.gov/pubmed/29474920

References

• OMIM:617931

Ontology

Human Disease   ( DOID:0111743 )