|OBO ID: DOID:0111493|
|Term Name:||combined oxidative phosphorylation deficiency 12||Search Ontology:|
|Definition:||A combined oxidative phosphorylation deficiency characterized by infantile onset of hypotonia and delayed psychomotor development or developmental regression that has_material_basis_in homozygous or compound heterozygous mutation in EARS2 on chromosome 16p12.2. (2)|
|Ontology:||Human Disease (DOID:0111493)|
|is a type of:||
OTHER combined oxidative phosphorylation deficiency 12 PAGES
ZEBRAFISH MODELS No data available
PHENOTYPE No data available
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