Human genes for mitochondrial DNA depletion syndrome 3
Mitochondrial DNA depletion syndrome 3 [DOID:0080121]
A mitochondrial DNA depletion syndrome that is characterized by onset in infancy of progressive liver failure and neurologic abnormalities, hypoglycemia, and increased lactate in body fluids, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the deoxyguanosine kinase gene on chromosome 2p13.
Synonyms: mitochondrial DNA depletion syndrome 3, DOID:0080121, deoxyguanosine kinase deficiency, deoxyguanosine kinase deficiencies