developmental and epileptic encephalopathy 58 (DOID:0080285)
Alliance: disease page
Synonyms: DEE58; early infantile epileptic encephalopathy 58
Alt IDs: OMIM:617830
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.