Term Name: | mitochondrial DNA depletion syndrome 18 |
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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 ) |