|OBO ID: DOID:0112216|
|Term Name:||developmental and epileptic encephalopathy 80||Search Ontology:|
|Definition:||A developmental and epileptic encephalopathy characterized by onset in the first year of life of refractory seizures, severe global developmental delay, and defective synthesis of glycosylphosphatidylinositol that has_material_basis_in homozygous or compound heterozygous mutation in PIGB on chromosome 15q21.3. https://pubmed.ncbi.nlm.nih.gov/31256876/|
|Ontology:||Human Disease (DOID:0112216)|
|is a type of:||
OTHER developmental and epileptic encephalopathy 80 PAGES
ZEBRAFISH MODELS No data available
PHENOTYPE No data available
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