ABSTRACT
Severe mental and motor retardation with deterioration and early death; coarse features; hepatosplenomegaly; dysostosis multiplex; cataracts and corneal opacities; deafness, deficient immune function, storage of mannosylglycoproteins, urinary excretion of mannosyl-oligosaccharides and defective activity of α-mannosidase, and mutations in the MAN2B1 gene.
