obsolete infantile onset spinocerebellar ataxia

Term ID

DOID:0050556

Synonyms

• OHAHA SYNDROME

Definition

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. https://ghr.nlm.nih.gov/condition/infantile-onset-spinocerebellar-ataxia

References

Obsolete

true

Secondary ID:

Merged into

mitochondrial DNA depletion syndrome 7

Ontology

  ( DOID:0050556 )