Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition Galactosialidosis is a lysosomal storage disease characterized by coarse facial features, macular ''cherry red spot'', and dysostosis multiplex. Clinical presentation can be heterogenous ranging from a severe, early-onset, rapidly progressive infantile form to late onset, slowly progressive juvenile/adult form. Disease data Classification Disease Synonyms Goldberg syndrome Niedobór neuraminidazy z niedoborem beta-galaktozydazy Zespół Goldberga Neuraminidase deficiency with beta-galactosidase deficiency ORPHA code 351 OMIM code 256540 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