Term Name: | primary coenzyme Q10 deficiency 2 |
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Synonyms: | coenzyme Q10 deficiency, primary, 2, COQ10D2, deafness-encephaloneuropathy-obesity-valvulopathy syndrome, hearing loss-encephaloneuropathy-obesity-valvulopathy syndrome |
Definition: | A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the PDSS1 gene on chromosome 10p12.1. |
Ontology: | Human Disease [DOID:0070239] ( DOID:0070239 ) |