|OBO ID: DOID:0111485|
|Term Name:||combined oxidative phosphorylation deficiency 24||Search Ontology:|
|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)|
|Ontology:||Human Disease (DOID:0111485)|
|is a type of:||
OTHER combined oxidative phosphorylation deficiency 24 PAGES
ZEBRAFISH MODELS No data available
PHENOTYPE No data available
Your Input Welcome
Thank you for submitting comments. Your input has been emailed to ZFIN curators who may contact you if additional information is required.
Oops. Something went wrong. Please try again later.