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ID	DOID:0080285
Name	developmental and 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
Xrefs	MIM:617830
Synonyms	DEE58 [EXACT] early infantile epileptic encephalopathy 58 [EXACT]
Parent Relationships	is_a developmental and epileptic encephalopathy is_a autosomal dominant disease