Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition Fucosidosis is an extremely rare lysosomal storage disorder characterized by a highly variable phenotype with common manifestations including neurologic deterioration, coarse facial features, growth retardation, and recurrent sinopulmonary infections, as well as seizures, visceromegaly, angiokeratoma and dysostosis. Disease data Classification Disease Synonyms Niedobór alfa-L-fukozydazy Alpha-L-fucosidase deficiency ORPHA code 349 OMIM code 230000 ICD10 code E77.1 ICD11 code 5C56.21 *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