Term Name: mitochondrial DNA depletion syndrome 9
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 )

Relationships
is a type of: autosomal recessive disease mitochondrial DNA depletion syndrome