Term Name: | primary coenzyme Q10 deficiency 8 |
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Synonyms: | coenzyme Q10 deficiency, primary, 8, COQ10D8 |
Definition: | A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the COQ7 gene on chromosome 16p12.3. |
Ontology: | Human Disease [DOID:0070245] ( DOID:0070245 ) |