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mosaic variegated aneuploidy syndrome 1

Disease Summary
Associated Targets (4)
Tbio

3

Tchem

1


Mondo Description Any mosaic variegated aneuploidy syndrome in which the cause of the disease is a mutation in the BUB1B gene.
Uniprot Description A severe developmental disorder characterized by mosaic aneuploidies, predominantly trisomies and monosomies, involving multiple different chromosomes and tissues. Affected individuals typically present with severe intrauterine growth retardation and microcephaly. Eye anomalies, mild dysmorphism, variable developmental delay, and a broad spectrum of additional congenital abnormalities and medical conditions may also occur. The risk of malignancy is high, with rhabdomyosarcoma, Wilms tumor and leukemia reported in several cases.
Mondo Term and Equivalent IDs
MONDO:0009759:  mosaic variegated aneuploidy syndrome 1
UMLS:CN031748: