Mondo Description Any coenzyme Q10 deficiency in which the cause of the disease is a mutation in the COQ7 gene.

Uniprot Description An autosomal recessive disorder resulting from mitochondrial dysfunction and characterized by decreased levels of coenzyme Q10. Patients manifest neonatal lung hypoplasia, contractures, early infantile hypertension and cardiac hypertrophy, secondary to prenatal kidney dysplasia, with neonatal and infantile renal dysfunction. Clinical features also include progressive peripheral neuropathy, muscular hypotonia and atrophy, and mild psychomotor delay with hearing and visual impairment.

Disease Ontology Description A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of COQ7 on chromosome 16p12.3.