Description of the disease * EnglishPolish Pobierz sekcję do PDF Definicja Xp22.13p22.2 duplication syndrome is a rare syndromic intellectual disability characterized by developmental delay and intellectual disability, learning and behavioral problems, short stature, thin and sparse hair, mild dysmorphic features, tapering fingers and later onset of scoliosis, obesity and cardiovascular problems (cardiomegaly and cardiomyopathy). Females have normal intelligence. Disease data Klasyfikacja Malformation syndrome Synonimy Dup(X)(p22) Dup(X)(p22) Dup(X)(p22.13p22.2) Duplikacja Xp22 Dup(X)(p22.13p22.2) Duplication Xp22 Kod ORPHA 284180 Kod OMIM - Kod ICD10 Q99.8 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