Mosaic Variegated Aneuploidy Syndrome 1

**Semantic type:** Disease or Syndrome

**Definition:** A mosaic variegated aneuploidy syndrome caused by mutations in the BUB1B gene. Clinical manifestations include growth retardation and an increased risk of developing malignant neoplasms, usually acute lymphoblastic leukemia, rhabdomyosarcoma, and Wilms tumor.

**Synonyms:** - MVA1