OBO ID: DOID:0111485
Term Name: combined oxidative phosphorylation deficiency 24 Search Ontology:
Synonyms:
  • COXPD24
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 NARS2 on chromosome 11q14.1. (3)
References:
Ontology: Human Disease   (DOID:0111485)
OTHER combined oxidative phosphorylation deficiency 24 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
NARS2 Combined oxidative phosphorylation deficiency 24 616239
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None