Mondo Description Any coenzyme Q10 deficiency in which the cause of the disease is a mutation in the COQ2 gene.

Uniprot Description An autosomal recessive disorder with variable manifestations consistent with 5 major phenotypes. The phenotypes include an encephalomyopathic form with seizures and ataxia; a multisystem infantile form with encephalopathy, cardiomyopathy and renal failure; a predominantly cerebellar form with ataxia and cerebellar atrophy; Leigh syndrome with growth retardation; and an isolated myopathic form.

Disease Ontology Description A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of COQ2 on chromosome 4q21.22-q21.23.