Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition A lysosomal storage disease with multisystemic involvement leading to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive coarse facial features, short stature, cardio-respiratory involvement and skeletal abnormalities. It manifests as a continuum varying from a severe form with neurodegeneration to an attenuated form without neuronal involvement. Disease data Classification Disease Synonyms Hunter syndrome MPS2 MPSII Mukopolisacharydoza typu II Niedobór 2-sulfatazy idorunianu Zespół Huntera Iduronate 2-sulfatase deficiency MPS2 MPSII Mucopolysaccharidosis type II ORPHA code 580 OMIM code 309900 ICD10 code E76.1 ICD11 code 5C56.31 *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