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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.

ORPHA:893

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

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The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.