| Term Name: | mitochondrial DNA depletion syndrome 18 |
|---|---|
| Synonyms: | |
| Definition: | A mitochondrial DNA depletion syndrome characterized by early onset progressive weakness, atrophy of the distal limb muscles, and multiple mitochondrial oxidative phosphorylation deficiencies that has_material_basis_in homozygous mutation in the SLC25A21 gene on chromosome 14q11.3. |
| Ontology: | Human Disease [DOID:0070449] ( DOID:0070449 ) |