aniridia - intellectual disability syndrome
Findings
No curated finding names aniridia - intellectual disability syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Aniridia-intellectual disability syndrome is an extremely rare autosomal dominant developmental defect of the eye described in several members of one family that is characterized by the association of moderate intellectual disability with aniridia, lens dislocation, optic nerve hypoplasia and cataracts. There have been no further descriptions in the literature since 1974.
Definition from the Mondo Disease Ontology (MONDO:0015199), read 2026-09-29. CC BY 4.0.
Features
5 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.
- AniridiaHPOHP:0000526
- Very frequent (80% to 99% of cases)
- CataractHPOHP:0000518
- Very frequent (80% to 99% of cases)
- Ectopia lentisHPOHP:0001083
- Very frequent (80% to 99% of cases)
- Moderate intellectual disabilityHPOHP:0002342
- Very frequent (80% to 99% of cases)
- Optic nerve hypoplasiaHPOHP:0000609
- Very frequent (80% to 99% of cases)
Where it sits
- A kind of
Other names
1 name
Resolves to: aniridia - intellectual disability syndrome
- Also called
- Walker-Dyson syndrome