|OBO ID: DOID:0111500|
|Term Name:||combined oxidative phosphorylation deficiency 23||Search Ontology:|
|Definition:||A combined oxidative phosphorylation deficiency characterized by early childhood onset of hypertrophic cardiomyopathy and/or neurologic symptoms, including hypotonia and delayed psychomotor development that has_material_basis_in homozygous or compound heterozygous mutation in GTPBP3 on chromosome 19p13.11. https://www.ncbi.nlm.nih.gov/pubmed/25434004|
|Ontology:||Human Disease (DOID:0111500)|
|is a type of:||
OTHER combined oxidative phosphorylation deficiency 23 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.