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Spinocerebellar Ataxia Type 28

Disease ID: disease_node_15988

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DbxrefMIM:610246
SubclassofDOID_1441
Data SourceDOID
Doid Labelspinocerebellar ataxia type 28
Doid DescriptionAn autosomal domit cerebellar ataxia that is characterized by progressive ataxia, dysarthria, hyperreflexia, ophthalmoparesis, nystagmus and ptosis, and has_material_basis_in mutation in the AFG3L2 gene.
Has SymptomSYMP_0000369
Disease Node Iddisease_node_15988
Doid IdDOID_0050977
LabelSpinocerebellar Ataxia Type 28