Multiple mitochondrial dysfunctions syndrome 4

Definition

Any fatal multiple mitochondrial dysfunctions syndrome in which the cause of the disease is a mutation in the ISCA2 gene.

Also known as fatal multiple mitochondrial dysfunctions syndrome caused by mutation in ISCA2, ISCA2 fatal multiple mitochondrial dysfunctions syndrome, multiple mitochondrial dysfunctions syndrome 4, multiple mitochondrial dysfunctions syndrome type 4 — per MONDO

Also identified as

• DOID 0080136 per MONDO
• OMIM 616370 per MONDO
• Orphanet 457406 per MONDO
• UMLS C4225348 per MONDO