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.
MONDO:0019251
oligosaccharidosis
is_a
MONDO:0800088
lysosomal storage disease with skeletal involvement
is_a
Alpha-L-fucosidase deficiency
exact
fucosidosis
exact
lysosomal storage disease caused by defective alpha-L-fucosidase with accumulation of fucose in the tissues
related