Term Name: | developmental and epileptic encephalopathy 58 |
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Synonyms: | DEE58, early infantile epileptic encephalopathy 58 |
Definition: | A developmental and epileptic encephalopathy characterized by onset in the first days or months of life of infantile spasms and refractory seizures, global developmental delay, and impaired intellectual development that has_material_basis_in heterozygous mutation in the NTRK2 gene on chromosome 9q21. |
Ontology: | Human Disease [DOID:0080285] ( DOID:0080285 ) |