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mannosidosis

Pronunciation: man'o-si-do'sis

Definition: 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.

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© Copyright 2018 Wolters Kluwer. All Rights Reserved. Review date: Sep 19, 2016.

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