|OBO ID: DOID:0112207|
|Term Name:||developmental and epileptic encephalopathy 71||Search Ontology:|
|Definition:||A developmental and epileptic encephalopathy characterized by early neonatal refractory seizures, respiratory failure, structural brain abnormalities and cerebral edema, with death within weeks after birth that has_material_basis_in homozygous or compound heterozygous mutation in GLS on chromosome 2q32.2. https://pubmed.ncbi.nlm.nih.gov/30575854/|
|Ontology:||Human Disease (DOID:0112207)|
|is a type of:||
OTHER developmental and epileptic encephalopathy 71 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.