OBO ID: DOID:0111493 |
Term Name: | combined oxidative phosphorylation deficiency 12 | Search Ontology: | |
---|---|---|---|
Synonyms: |
|
||
Definition: | A combined oxidative phosphorylation deficiency characterized by infantile onset of hypotonia and delayed psychomotor development or developmental regression that has_material_basis_in homozygous or compound heterozygous mutation in the EARS2 gene on chromosome 16p12.2. (2) | ||
References: |
|
||
Ontology: | Human Disease ( DOID:0111493 ) |
OTHER combined oxidative phosphorylation deficiency 12 PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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.