Namespace | disease_ontology | Obsolete | false |
description | A developmental and epileptic encephalopathy characterized by onset around 5 months of age of infantile spasms, hypsarrhythmia on EEG, and severely delayed psychomotor development with impaired or absent walking and language skills that has_material_basis_in heterozygous mutation in the NEUROD2 gene on chromosome 17q12. |