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cataract-ataxia-deafness syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

cataract-ataxia-deafness syndrome

MONDO:0008928

Also known as:Begeer syndromecataract ataxia deafnesscataract-ataxia-deafness-retardation syndrome

Overview

Cataract-ataxia-deafness syndrome is characterized by mild intellectual deficit, congenital cataract, progressive sensorineural deafness and ataxia. It has been described in two sisters. The inheritance is likely to be autosomal recessive.

GeneticsAutosomal recessive

OnsetLATE

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include: Mild intellectual disability, Short stature, Polyneuropathy, and Developmental cataract and 4 more.

Organ System	Phenotype Count	Example Features
Brain and nerves	3	Mild intellectual disability, Polyneuropathy, Ataxia
Growth and development

Diagnosis

Biomarker and diagnostic research for cataract-ataxia-deafness 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.

No clinical trials have been registered for cataract-ataxia-deafness syndrome.

208 publications have been identified in PubMed for cataract-ataxia-deafness syndrome. Research spans Review / Meta-Analysis (59%), Basic Science / Preclinical (13%), and Case Report / Case Series (11%).

Research Type	Count	% of Total
Research summaries	122	59%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 9:41 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:212710

Orphanet

European rare disease database

Orphanet:1368

GARD

Genetic and Rare Diseases Info Center

GARD:1141

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→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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cataract-ataxia-deafness syndrome

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

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Recent Publications

cataract-ataxia-deafness syndrome

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications