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WAGR syndrome

Disease definition

A rare genetic disorder characterized by the association of total or partial aniridia, genitourinary anomalies (ranging from sexual ambiguity to ectopia testis), variable degrees of intellectual disability, and an increased risk of developing Wilms tumor. Glaucoma or cataract are also possible, and a minority of patients develop kidney failure. Other varaible findings may include obesity and duplicated halluces.


Classification level: Disorder
  • Synonym(s):
    • Del(11)(p13)
    • Deletion 11p13
    • Monosomy 11p13
    • Wilms tumor-aniridia-genitourinary anomalies-intellectual disability syndrome
  • Prevalence: -
  • Inheritance: Autosomal dominant 
  • Age of onset: Neonatal
  • ICD-10: C64
  • OMIM: 194072  612469
  • UMLS: C0206115  C2931803
  • MeSH: C538295  D017624
  • GARD: 5528
  • MedDRA: -

Detailed information

Article for general public


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