Term Name:	mitochondrial DNA depletion syndrome 5
Synonyms:	succinate-CoA ligase deficiency
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.
Ontology:	Human Disease [DOID:0080124]   ( DOID:0080124 )