Description of the disease * EnglishPolish Pobierz sekcję do PDF Definicja A rare, genetic, syndromic neurodevelopmental disorder characterized by moderate to mostly severe intellectual disability, speech impairment with normal or mildly delayed motor development and early-onset seizures often accompanied by developmental regression. Autistic behavior and stereotypic movements are common. Disease data Klasyfikacja Disease Synonimy CDFE syndrome CDFES CNTNAP2-related DEE Cortical dysplasia-focal epilepsy syndrome Kod ORPHA 163681 Kod OMIM 610042 Kod ICD10 Q04.8 Kod ICD11 - *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