mitochondrial DNA depletion syndrome 6 (DOID:0080125)
Alliance: disease page
Synonyms: MPV17-related hepatocerebral mitochondrial DNA depletion syndrome; Navajo neurohepatopathy
Alt IDs: OMIM:256810, MESH:C538344, ORDO:255229
Definition: A mitochondrial DNA depletion syndrome that is characterized by infantile onset of progressive liver failure, often leading to death in the first year of life, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the mitochondrial inner membrane protein MPV17 gene on chromosome 2p23.