Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome is a rare, syndromic intellectual disability syndrome characterized by cortical blindness, different types of seizures, intellectual disability with limited or absent speech, and dysmorphic facial features. Brain imaging typically shows mild pontine hypoplasia, hypoplasia of the corpus callosum and atrophy in the occipital region. Disease data Classification Malformation syndrome Synonyms Epilepsy-cortical blindness-intellectual disability-facial dysmorphism syndrome Zespół padaczka ślepota korowa-niepełnosprawność intelektualna-dysmorfia twarzy ORPHA code 411986 OMIM code 615859 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