Human genes for mitochondrial DNA depletion syndrome 6
Mitochondrial DNA depletion syndrome 6 [DOID:0080125]
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.
Synonyms: mitochondrial DNA depletion syndrome 6, DOID:0080125, MPV17-related hepatocerebral mitochondrial DNA depletion syndrome, Navajo neurohepatopathy, MPV17related hepatocerebral mitochondrial DNA depletion syndrome ...