Term Name: | mitochondrial DNA depletion syndrome 17 |
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Synonyms: | |
Definition: | A mitochondrial DNA depletion syndrome characterized by childhood onset of encephalopathy, stroke-like episodes, lactic acidosis, hypocitrullinemia, and multiple mitochondrial oxidative phosphorylation deficiencies that has_material_basis_in homozygous mutation in the MRM2 gene on chromosome 7p22.3. Phenotype is similar to MELAS syndrome. |
Ontology: | Human Disease [DOID:0070448] ( DOID:0070448 ) |