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Metadata
DOID DOID:0050986
Name spinocerebellar ataxia type 40
Definition An autosomal dominant cerebellar ataxia that is characterized by progressive gait abnormalutes, dysarthria, tremor and hyporeflexia, has_material_basis_in muation in the CCDC88C gene.
https://www.omim.org/entry/616053
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OMIM:616053

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is_a autosomal dominant cerebellar ataxia

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