Mitochondrial DNA depletion syndrome 13

Definition

Any mitochondrial DNA depletion syndrome in which the cause of the disease is a mutation in the FBXL4 gene.

Also known as FBXL4 mitochondrial DNA depletion syndrome, mitochondrial DNA depletion syndrome caused by mutation in FBXL4, mitochondrial DNA depletion syndrome type 13, mtDNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies — per MONDO

Also identified as

• DOID 0080131 per MONDO
• NCIT C172095 per MONDO
• OMIM 615471 per MONDO
• Orphanet 369897 per MONDO
• SCTID 765403009 per MONDO
• UMLS C3809592 per MONDO