Mitochondrial complex III deficiency nuclear type 2

Definition

Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the TTC19 gene.

Also known as MC3DN2, mitochondrial complex III deficiency caused by mutation in TTC19, mitochondrial complex III deficiency nuclear type 2, TTC19 mitochondrial complex III deficiency — per MONDO

Also identified as

• DOID 0060351 per MONDO
• OMIM 615157 per MONDO
• UMLS C3554605 per MONDO