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developmental and epileptic encephalopathy 80 (DOID:0112216)
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Synonyms: DEE80; early infantile epileptic encephalopathy 80; glycosylphosphatidylinositol biosynthesis defect 20; GPIBD20
Alt IDs: OMIM:618580
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.

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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12/10/2024
MGI 6.24 		The Jackson Laboratory