|OBO ID: DOID:0080128|
|Term Name:||mitochondrial DNA depletion syndrome 9||Search Ontology:|
|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. (5)|
|Ontology:||Human Disease (DOID:0080128)|
|is a type of:||
OTHER mitochondrial DNA depletion syndrome 9 PAGES
ZEBRAFISH MODELS No data available
PHENOTYPE No data available
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