WAGR syndrome
MONDO:0008681Mondo
Findings
No curated finding names WAGR syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
WAGR syndrome (Wilms tumor - aniridia - genitourinary anomalies - intellectual disability mental retardation) is a rare genetic disorder characterized by an unusual complex of congenital developmental abnormalities with intellectual disability, and an increased risk of developing Wilms tumor.
Definition from the Mondo Disease Ontology (MONDO:0008681), read 2026-09-29. CC BY 4.0.
Features
22 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Aplasia/Hypoplasia of the irisHPOHP:0008053
- Very frequent (80% to 99% of cases)
- CataractHPOHP:0000518
- Frequent (30% to 79% of cases)
- CryptorchidismHPOHP:0000028
- Frequent (30% to 79% of cases)
- Displacement of the urethral meatusHPOHP:0100627
- Frequent (30% to 79% of cases)
- Everted lower lip vermilionHPOHP:0000232
- Frequent (30% to 79% of cases)
- Hearing abnormalityHPOHP:0000364
- Frequent (30% to 79% of cases)
- Intellectual disabilityHPO · MondoHP:0001249
- Frequent (30% to 79% of cases)
- MicrocephalyHPOHP:0000252
- Frequent (30% to 79% of cases)
- MicrognathiaHPOHP:0000347
- Frequent (30% to 79% of cases)
- NystagmusHPOHP:0000639
- Frequent (30% to 79% of cases)
- PtosisHPOHP:0000508
- Frequent (30% to 79% of cases)
- Short statureHPOHP:0004322
- Frequent (30% to 79% of cases)
Show the remaining 10
- Visual impairmentHPOHP:0000505
- Frequent (30% to 79% of cases)
- Ambiguous genitaliaHPOHP:0000062
- Occasional (5% to 29% of cases)
- Dysfunction of lateral corticospinal tractsHPOHP:0007299
- Occasional (5% to 29% of cases)
- GlaucomaHPOHP:0000501
- Occasional (5% to 29% of cases)
- ObesityHPOHP:0001513
- Occasional (5% to 29% of cases)
- ScoliosisHPOHP:0002650
- Occasional (5% to 29% of cases)
Where it sits
Other names
11 names
Resolves to: WAGR syndrome
- Also called
- 11p partial monosomy syndromechromosome 11p13 deletion syndromeDel(11)(p13)deletion 11p13monosomy 11p13WAGR 11p13 deletion syndromeWAGR Syndrome/11p Deletion SyndromeWilms tumor-aniridia-genitourinary anomalies-intellectual disability syndromeWilms tumor-aniridia-genitourinary anomalies-mental retardation syndromeWilms tumor, aniridia, genitourinary anomalies and developmental delay syndromeWilms tumor, aniridia, genitourinary anomalies and mental retardation syndrome, autosomal dominant, somatic mutation