PhenomeGene — Human Disease Gene Website SeriesPOLG2

Clinical Characteristics

Neurological symptoms: These can include developmental delays, seizures, ataxia (lack of muscle control), neuropathy, and cognitive impairment.

Muscle weakness and wasting: Patients may experience progressive external ophthalmoplegia (PEO), which is weakness of the eye muscles, as well as muscle weakness and wasting in the limbs and trunk.