Terminology Service for NFDI4Health

obsolete infantile onset spinocerebellar ataxia

Go to external page http://purl.obolibrary.org/obo/DOID_0050556


This term is obsolete


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

Label

obsolete infantile onset spinocerebellar ataxia

has obo namespace

disease_ontology

id

DOID:0050556

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