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aniridia - intellectual disability syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

aniridia - intellectual disability syndrome

MONDO:0015199

Also known as:Walker-Dyson syndromeaniridia associated with intellectual disability and other eye abnormalitiesaniridia associated with mental retardation and other eye abnormalities

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Overview

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.

Clinical Trials1 registered · 1 recruiting

Diagnosis

Biomarker and diagnostic research for aniridia - intellectual disability syndrome has been reported in the published literature.

Prognosis

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

1 clinical trial registered, 1 recruiting. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.

146 publications have been identified in PubMed for aniridia - intellectual disability syndrome. Research spans Review / Meta-Analysis (64%), Basic Science / Preclinical (16%), and Epidemiology / Natural History (8%).

Research Type	Count	% of Total
Research summaries	94	64%

Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 2:59 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:1068

GARD

Genetic and Rare Diseases Info Center

GARD:5530

Questions for Your Care Team

→Are any of the 1 active clinical trial a good fit for my situation?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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aniridia - intellectual disability syndrome

Overview

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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