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Metadata
ID DOID:0050977
Name spinocerebellar ataxia type 28
Definition An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia, dysarthria, hyperreflexia, ophthalmoparesis, nystagmus and ptosis, and has_material_basis_in mutation in the AFG3L2 gene.
https://rarediseases.info.nih.gov/diseases/9951/spinocerebellar-ataxia-28
Xrefs

OMIM:610246

Parent Relationships

is_a autosomal dominant cerebellar ataxia

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