Term Name: | developmental and epileptic encephalopathy 100 |
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Synonyms: | DEE100, early infantile epileptic encephalopathy 100 |
Definition: | A developmental and epileptic encephalopathy characterized by onset of variable types of seizures in the first months or years of life preceded by global developmental delay that has_material_basis_in heterozygous mutation in the FBXO28 gene on chromosome 1q42. |
Ontology: | Human Disease [DOID:0070386] ( DOID:0070386 ) |