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Mosaic variegated aneuploidy syndrome

Disease definition

Mosaic variegated aneuploidy (MVA) syndrome is a chromosomal anomaly characterized by multiple mosaic aneuploidies that leads to a variety of phenotypic abnormalities and cancer predisposition.


Classification level: Disorder
  • Synonym(s):
    • Warburton-Anyane-Yeboa syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant or Autosomal recessive 
  • Age of onset: Neonatal, Antenatal
  • ICD-10: Q99.8
  • ICD-11: LD7Y
  • OMIM: 257300  614114  617598  620153  620189
  • UMLS: -
  • MeSH: C536987
  • GARD: 3007
  • MedDRA: -
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