Mannosidosis meaning

An inherited lysosomal storage disease (alpha-mannosidosis) characterized by the accumulation of mannose-containing oligosaccharides in the tissues, resulting in symptoms of varying severity that include intellectual disability, enlarged liver and spleen, facial dysmorphism, skeletal abnormalities, immune deficiency, and hearing loss.

An inherited lysosomal storage disease (beta-mannosidosis) characterized by the accumulation of mannose-containing disaccharides in the tissues, resulting in intellectual disability, hearing loss, and often angiokeratomas.