Term Name: | developmental and epileptic encephalopathy 80 |
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Synonyms: | DEE80, early infantile epileptic encephalopathy 80, glycosylphosphatidylinositol biosynthesis defect 20, GPIBD20 |
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. |
Ontology: | Human Disease [DOID:0112216] ( DOID:0112216 ) |