Term Name: | primary coenzyme Q10 deficiency 7 |
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Synonyms: | coenzyme Q10 deficiency, primary, 7, COQ10D7, COQ4-related neonatal encephalomyopathy, neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome |
Definition: | A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the COQ4 gene on chromosome 9q34.11. |
Ontology: | Human Disease [DOID:0070244] ( DOID:0070244 ) |