|OBO ID: DOID:0111477|
|Term Name:||combined oxidative phosphorylation deficiency 14||Search Ontology:|
|Definition:||A combined oxidative phosphorylation deficiency characterized by neonatal onset of global developmental delay, refractory seizures, and lactic acidosis that has_material_basis_in homozygous or compound heterozygous mutation in FARS2 on chromosome 6p25.1. (2)|
|Ontology:||Human Disease (DOID:0111477)|
|is a type of:||
OTHER combined oxidative phosphorylation deficiency 14 PAGES
ZEBRAFISH MODELS No data available
PHENOTYPE No data available
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