Mondo Description Any coenzyme Q10 deficiency in which the cause of the disease is a mutation in the PDSS2 gene.

Uniprot Description A fatal encephalomyopathic form of coenzyme Q10 deficiency with nephrotic syndrome. Coenzyme Q10 deficiency is 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 PDSS2 on chromosome 6q21.