Coenzyme Q10 deficiency, primary, 3

Definition

Any coenzyme Q10 deficiency in which the cause of the disease is a mutation in the PDSS2 gene.

Also known as coenzyme Q10 deficiency caused by mutation in PDSS2, coenzyme Q10 deficiency, primary, 3, coenzyme Q10 deficiency, primary, type 3, PDSS2 coenzyme Q10 deficiency — per MONDO

Also identified as

• DOID 0070240 per MONDO
• OMIM 614652 per MONDO
• UMLS C3553358 per MONDO