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DOID 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
Xrefs

OMIM:133190

Relationships

is_a autosomal dominant cerebellar ataxia

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