Term Name: | primary coenzyme Q10 deficiency 6 |
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Synonyms: | coenzyme Q10 deficiency, primary, 6, COQ10D6, familial steroid-resistant nephrotic syndrome with sensorineural deafness |
Definition: | A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the COQ6 gene on chromosome 14q24.3. |
Ontology: | Human Disease [DOID:0070243] ( DOID:0070243 ) |