Term Name: | primary coenzyme Q10 deficiency 1 |
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Synonyms: | coenzyme Q deficiency 1, CoQ deficiency 1, CoQ10 deficiency, primary, 1, COQ10D1, ubiquinone deficiency 1 |
Definition: | A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the COQ2 gene on chromosome 4q21.22-q21.23. |
Ontology: | Human Disease [DOID:0070238] ( DOID:0070238 ) |