Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition A rare genetic developmental and epileptic encephalopathy (DEE) characterized by developmental delay, generalized epilepsy consisting of eyelid myoclonia with absences and myoclonic-atonic seizures, intellectual disability and autism spectrum disorder (ASD). Disease data Classification Disease Synonyms SYNGAP1-related DEE SYNGAP1-related DEE ORPHA code 544254 OMIM code - ICD10 code G40.4 ICD11 code - *Soruce Extended description of the disease Pobierz sekcję do PDF No additional description. Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl