Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition A rare partial autosomal trisomy/tetrasomy characterized by obesity, global developmental delay and intellectual disability, facial dysmorphism (synophrys, high-arched eyebrows, large posteriorly rotated ears, upturned nose, long smooth philtrum, overbite and high palate), large hands and limb hypotonia. Additional features include seizures and behavioral abnormalities. Disease data Classification Malformation syndrome Synonyms Dup(11)p(15.4) Dup(11)p(15.4) Trisomia 11p15.4 Trisomy 11p15.4 ORPHA code 300305 OMIM code - ICD10 code Q92.3 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