OBO ID: DOID:0112212 |
Term Name: | developmental and epileptic encephalopathy 76 | Search Ontology: | |
---|---|---|---|
Synonyms: |
|
||
Definition: | A developmental and epileptic encephalopathy characterized by early-onset, usually refractory, seizures, severely delayed global development, hypotonia, peripheral spasticity, and abnormalities on brain imaging that has_material_basis_in homozygous or compound heterozygous mutation in the ACTL6B gene on chromosome 7q22.1. https://pubmed.ncbi.nlm.nih.gov/31031012/ | ||
References: | |||
Ontology: | Human Disease ( DOID:0112212 ) |
OTHER developmental and epileptic encephalopathy 76 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.