Term Name: | mitochondrial DNA depletion syndrome 6 |
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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 ) |