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Human Disease

mitochondrial DNA depletion syndrome 17

Term ID
DOID:0070448
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. https://pubmed.ncbi.nlm.nih.gov/28973171/
References
Ontology
Human Disease   ( DOID:0070448 )
Relationships
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Genes Involved
Zebrafish Models