Term Name: mitochondrial DNA depletion syndrome 6
Synonyms: MPV17-related hepatocerebral mitochondrial DNA depletion syndrome, Navajo neurohepatopathy
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.
Ontology: Human Disease [DOID:0080125]   ( DOID:0080125 )

Relationships
is a type of: autosomal recessive disease mitochondrial DNA depletion syndrome