Version: 8.0.0
Date: Tue Jan 28 2025
mitochondrial DNA depletion syndrome 17
DOID:0070448
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

mitochondrial DNA depletion syndrome 17

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.
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