mitochondrial DNA depletion syndrome 5 (DOID:0080124)
Alliance: disease page
Synonyms: succinate-CoA ligase deficiency
Alt IDs: OMIM:612073, MESH:C567624, MESH:C580473
Definition: A mitochondrial DNA depletion syndrome that is characterized by infantile onset of hypotonia, progressive neurologic deterioration, a hyperkinetic-dystonic movement disorder, external ophthalmoplegia, deafness, and variable renal tubular dysfunction, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the beta subunit of the succinate-CoA ligase gene on chromosome 13q14.