Multiple mitochondrial dysfunctions syndrome 1

Definition

Any fatal multiple mitochondrial dysfunctions syndrome in which the cause of the disease is a mutation in the NFU1 gene.

Also known as fatal multiple mitochondrial dysfunctions syndrome caused by mutation in NFU1, multiple mitochondrial dysfunctions syndrome 1, multiple mitochondrial dysfunctions syndrome type 1, NFU1 deficiency, NFU1 fatal multiple mitochondrial dysfunctions syndrome — per MONDO

Also identified as

• DOID 0080133 per MONDO
• OMIM 605711 per MONDO
• Orphanet 401869 per MONDO
• UMLS C3276432 per MONDO