|OBO ID: DOID:0111484|
|Term Name:||combined oxidative phosphorylation deficiency 18||Search Ontology:|
|Definition:||A combined oxidative phosphorylation deficiency characterized by intrauterine growth retardation, hypotonia, visual impairment, speech delay, and lactic acidosis that has_material_basis_in homozygous or compound heterozygous mutation in SFXN4 on chromosome 10q26.11. https://www.ncbi.nlm.nih.gov/pubmed/24119684|
|Ontology:||Human Disease (DOID:0111484)|
|is a type of:||
OTHER combined oxidative phosphorylation deficiency 18 PAGES
ZEBRAFISH MODELS No data available
PHENOTYPE No data available
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