Description of the disease * EnglishPolish Pobierz sekcję do PDF Definicja A rare, genetic, syndromic intellectual disability characterized by global developmental delay, early-onset seizures, cerebellar atrophy, osteopenia, nystagmus and dysmorphic facial features, including bitemporal narrowing, prominent forehead, anteverted nares. Dysarthria, dysmetria, ataxic gait, spasticity and dysmorphic features have also been associated. Disease data Klasyfikacja Malformation syndrome Synonimy GPAA1-related biosynthesis defect GPAA1-related biosynthesis defect Kod ORPHA 529665 Kod OMIM 617810 Kod ICD10 - 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