OBO ID: DOID:0112216 |
Term Name: | developmental and epileptic encephalopathy 80 | Search Ontology: | |
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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 the PIGB gene on chromosome 15q21.3. https://pubmed.ncbi.nlm.nih.gov/31256876/ | ||
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Ontology: | Human Disease ( DOID:0112216 ) |
OTHER developmental and epileptic encephalopathy 80 PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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