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Human Disease
developmental and epileptic encephalopathy 58
- Term ID
- DOID:0080285
- Synonyms
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- 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. https://www.ncbi.nlm.nih.gov/pubmed/29100083
- References
- Ontology
- Human Disease ( DOID:0080285 )
- is a type of
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