mitochondrial DNA depletion syndrome 9 (DOID:0080128)
Alliance: disease page
Synonyms: fatal infantile lactic acidosis
Alt IDs: OMIM:245400, MESH:C580473, ORDO:17
Definition: A mitochondrial DNA depletion syndrome that is characterized by infantile onset of hypotonia, lactic acidosis, severe psychomotor retardation, progressive neurologic deterioration, and excretion of methylmalonic acid, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the alpha subunit of the succinate-CoA ligase gene on chromosome 2p11.