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Medical Term:


Pronunciation: man'o-si-do'sis


Congenital deficiency of a-mannosidase; associated with coarse facial features, enlarged tongue, mental retardation, kyphosis, radiographic skeletal abnormalities, and vacuolated lymphocytes, with accumulation of mannose in tissues; autosomal recessive inheritance, caused by mutation in the a-mannosidase gene (MANB) on chromosome 19p.

© Copyright 2017 Wolters Kluwer. All Rights Reserved. Review Date: Sep 19, 2016.