Metadata | |
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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 | |
Synonyms |
SCAR27 [EXACT] |
Parent Relationships |