Mosaic Variegated Aneuploidy Syndrome 1 (MVA1)

Mosaic Variegated Aneuploidy Syndrome 1, also known as mva syndrome, is related to mosaic variegated aneuploidy syndrome 2 and mosaic variegated aneuploidy syndrome, and has symptoms including myoclonic seizures An important gene associated with Mosaic Variegated Aneuploidy Syndrome 1 is BUB1B (BUB1 Mitotic Checkpoint Serine/Threonine Kinase B), and among its related pathways/superpathways are Signal Transduction and Signaling by Rho GTPases. Affiliated tissues include eye and bone marrow, and related phenotypes are microcephaly and intrauterine growth retardation