Multiple mitochondrial dysfunctions syndrome 3

Definition

Any fatal multiple mitochondrial dysfunctions syndrome in which the cause of the disease is a mutation in the IBA57 gene.

Also known as fatal multiple mitochondrial dysfunctions syndrome caused by mutation in IBA57, IBA57 deficiency, IBA57 fatal multiple mitochondrial dysfunctions syndrome, multiple mitochondrial dysfunctions syndrome 3, multiple mitochondrial dysfunctions syndrome type 3 — per MONDO

Also identified as

• DOID 0080135 per MONDO
• OMIM 615330 per MONDO
• Orphanet 363424 per MONDO
• UMLS C3809165 per MONDO