Term Name: mitochondrial DNA depletion syndrome 17
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 )

Relationships
is a type of: autosomal recessive disease mitochondrial DNA depletion syndrome