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Metadata
ID DOID:0111616
Name autosomal recessive spinocerebellar ataxia 27
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
Xrefs

OMIM:618369

Synonyms

SCAR27 [EXACT]

Parent Relationships

is_a autosomal recessive cerebellar ataxia

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