Term Name: | mitochondrial DNA depletion syndrome 9 |
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Synonyms: | fatal infantile lactic acidosis |
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. |
Ontology: | Human Disease [DOID:0080128] ( DOID:0080128 ) |