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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.
ORPHA:351Classification level: Disorder
A summary on this disease is available in Español (2017) Nederlands (2017) Italiano (2003) Français (2015)
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