OBO ID: DOID:0111484 |
Term Name: | combined oxidative phosphorylation deficiency 18 | Search Ontology: | |
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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 the SFXN4 gene on chromosome 10q26.11. https://www.ncbi.nlm.nih.gov/pubmed/24119684 | ||
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Ontology: | Human Disease ( DOID:0111484 ) |
OTHER combined oxidative phosphorylation deficiency 18 PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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