mitochondrial DNA depletion syndrome 16 (DOID:0070446)
Alliance: disease page
Synonyms: mitochondrial DNA depletion syndrome 16 (hepatic type)
Alt IDs: OMIM:618528
Definition: A mitochondrial DNA depletion syndrome characterized by infantile onset of fulminant hepatic liver failure that has_material_basis_in homozygous mutation in the POLG2 gene on chromosome 17q23.3.