mitochondrial DNA depletion syndrome 18 (DOID:0070449)
Alliance: disease page
Alt IDs: OMIM:618811
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.