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ID | DOID:0050981 |
Name | spinocerebellar ataxia type 34 |
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. https://rarediseases.info.nih.gov/diseases/59/spinocerebellar-ataxia-34 |
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