OBO ID: DOID:0111485 |
Term Name: | combined oxidative phosphorylation deficiency 24 | Search Ontology: | |
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Definition: | A combined oxidative phosphorylation deficiency typically characterized by delayed neurodevelopment, refractory seizures, hypotonia, and hearing impairment that has_material_basis_in homozygous or compound heterozygous mutation in the NARS2 gene on chromosome 11q14.1. (3) | ||
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Ontology: | Human Disease ( DOID:0111485 ) |
OTHER combined oxidative phosphorylation deficiency 24 PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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