Term Name: | developmental and epileptic encephalopathy 11 |
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Synonyms: | DEE11, early infantile epileptic encephalopathy 11 |
Definition: | A developmental and epileptic encephalopathy characterized by infantile onset of refractory seizures, delayed neurologic development, and persistent neurologic abnormalities that has_material_basis_in heterozygous mutation in the SCN2A gene on chromosome 2q24. |
Ontology: | Human Disease [DOID:0080421] ( DOID:0080421 ) |