Search Ontology:
Human Disease

combined oxidative phosphorylation deficiency 24

Term ID
DOID:0111485
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 the NARS2 gene on chromosome 11q14.1. (3)
References
Ontology
Human Disease   ( DOID:0111485 )
Relationships
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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