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Up to: Lysosomal storage disease with skeletal involvement · Oligosaccharidosis

Fucosidosis

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.

2 trials tagged with this condition →

This condition has no sub-types.