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primary coenzyme Q10 deficiency 6
Summary
- Synonym
-
- COQ10D6
- coenzyme Q10 deficiency, primary, 6
- 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.
- Super Class
- coenzyme Q10 deficiency disease
External Links
- Disease Ontology
- DOID:0070243
- Mondo Disease Ontology
- ORDO
- OMIM
