Term Name: | primary coenzyme Q10 deficiency 3 |
---|---|
Synonyms: | coenzyme Q10 deficiency, primary, 3, COQ10D3 |
Definition: | A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the PDSS2 gene on chromosome 6q21. |
Ontology: | Human Disease [DOID:0070240] ( DOID:0070240 ) |