Term Name: | spinocerebellar ataxia type 34 |
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Synonyms: | |
Definition: | An autosomal dominant cerebellar ataxia that is characterized by papulosquamous, ichthyosiform plaques at birth and progressive ataxia, dysarthria, nystagmus and hyporeflexia, has_material_basis_in mutation in the ELOVL4 gene. |
Ontology: | Human Disease [DOID:0050981] ( DOID:0050981 ) |