label: Mosaic Variegated Aneuploidy Syndrome 1
label_lc: mosaic variegated aneuploidy syndrome 1
description: "An autosomal recessive genetic disorder caused by mutation(s) in the BUB1B gene, encoding mitotic checkpoint serine/threonine-protein kinase B. The condition is characterized by a predisposition to mitotic non-disjunction, resulting in a high percentage of aneuploid cells. The phenotype is variable and there is a predisposition to cancer."