Multiple mitochondrial dysfunctions syndrome 2

Definition

Any fatal multiple mitochondrial dysfunctions syndrome in which the cause of the disease is a mutation in the BOLA3 gene.

Also known as BOLA3 deficiency, BOLA3 fatal multiple mitochondrial dysfunctions syndrome, fatal multiple mitochondrial dysfunctions syndrome caused by mutation in BOLA3, multiple mitochondrial dysfunctions syndrome 2, multiple mitochondrial dysfunctions syndrome type 2 — per MONDO

Also identified as

• DOID 0080134 per MONDO
• OMIM 614299 per MONDO
• Orphanet 401874 per MONDO
• UMLS C3280378 per MONDO