Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition A rare, severe form of mucolipidosis characterized by growth retardation, skeletal abnormalities (dysostosis multiplex, craniosynostosis, contractures of the joints and osteopenia), facial dysmorphism, stiff skin, obstructive airway, cardiomegaly and severe global developmental delay. Disease data Classification Disease Synonyms I-cell disease Niedobór N-acetyloglukozamino-1-fosfotransferazy Choroba "I-cell" Mucolipidosis type II alpha/beta N-acetylglucosamine 1-phosphotransferase deficiency ORPHA code 576 OMIM code 252500 ICD10 code E77.0 ICD11 code 5C56.20 *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