obsolete infantile onset spinocerebellar ataxia
An autosomal recessive cerebellar ataxia that is characterized by progressive ataxia, hypotonia, hyporeflexia, athetosis and sensory impairment, has_material_basis_in mutation in the TWNK gene that affects mitochondrial function. [ http://purl.obolibrary.org/obo/ECO_0007637 ]
Term info
obsolete infantile onset spinocerebellar ataxia
disease_ontology
DOID:0050556