Human genes for mitochondrial DNA depletion syndrome 5
Mitochondrial DNA depletion syndrome 5 [DOID:0080124]
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.
Synonyms: mitochondrial DNA depletion syndrome 5, DOID:0080124, succinate-CoA ligase deficiency, succinateCoA ligase deficiency, succinate-CoA ligase deficiencies