|OBO ID: DOID:0112212|
|Term Name:||developmental and epileptic encephalopathy 76||Search Ontology:|
|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 ACTL6B on chromosome 7q22.1. https://pubmed.ncbi.nlm.nih.gov/31031012/|
|Ontology:||Human Disease (DOID:0112212)|
|is a type of:||
OTHER developmental and epileptic encephalopathy 76 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.