autosomal recessive spinocerebellar ataxia 27

Term ID

DOID:0111616

Synonyms

• SCAR27

Definition

An autosomal recessive cerebellar ataxia characterized by adult onset of progressive gait difficulties and other cerebellar signs that has_material_basis_in homozygous or compound heterozygous mutation in the GDAP2 gene on chromosome 1p12. https://www.ncbi.nlm.nih.gov/pubmed/30084953

References

• OMIM:618369

Ontology

Human Disease   ( DOID:0111616 )