combined oxidative phosphorylation deficiency 24 Disease Ontology Browser

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combined oxidative phosphorylation deficiency 24 (DOID:0111485)
Alliance: disease page
Synonyms: COXPD24
Alt IDs: OMIM:616239, ORDO:444458
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.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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