Term Name: developmental and epileptic encephalopathy 58
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 )

Relationships
is a type of: autosomal dominant disease developmental and epileptic encephalopathy