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| Term | developmental and epileptic encephalopathy 58 | ID (Ontology) | DOID:0080285 (Human Disease) |
| 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. | ||
| Also Known As | "DEE58" ; "early infantile epileptic encephalopathy 58" | ||
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| DO.org | |||
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electroclinical syndrome |__developmental and epileptic encephalopathy__ autosomal genetic disease | |__autosomal dominant disease__________________| developmental and epileptic encephalopathy 58 |
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autosomal dominant disease developmental and epileptic encephalopathy |
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| MIM:617830 | |||