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Up to: Eye disorder · Lysosomal storage disease with skeletal involvement · Oligosaccharidosis

Galactosialidosis

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.

2 trials tagged with this condition →

This condition has no sub-types.