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

• OMIM:618567

Ontology

Human Disease   ( DOID:0070448 )