Term Name: | developmental and epileptic encephalopathy 26 |
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Synonyms: | DEE26, early infantile epileptic encephalopathy 26 |
Definition: | A developmental and epileptic encephalopathy characterized by onset in the first years of life of seizures, developmental delay, intellectual disability, poor speech, and behavioral abnormalities that has_material_basis_in heterozygous mutation in the KCNB1 gene on chromosome 20q13. |
Ontology: | Human Disease [DOID:0080461] ( DOID:0080461 ) |