Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)

Definition

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

Also known as mitochondrial DNA depletion syndrome 15 (hepatocerebral type), mitochondrial DNA depletion syndrome caused by mutation in TFAM, TFAM mitochondrial DNA depletion syndrome — per MONDO

Also identified as

• DOID 0080337 per MONDO
• OMIM 617156 per MONDO
• UMLS C4310690 per MONDO