Human genes for mitochondrial DNA depletion syndrome 9
Mitochondrial DNA depletion syndrome 9 [DOID:0080128]
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.
Synonyms: mitochondrial DNA depletion syndrome 9, DOID:0080128, fatal infantile lactic acidosis, fatal infantile lactic acidosises