spinocerebellar ataxia type 34

Term ID

DOID:0050981

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. https://rarediseases.info.nih.gov/diseases/59/spinocerebellar-ataxia-34

References

• MIM:133190

Ontology

Human Disease   ( DOID:0050981 )