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

Rare Disease

ataxia - deafness - intellectual disability syndrome

MONDO:0008838

Also known as:Reardon-Baraitser syndromeataxia-hearing loss-intellectual disability syndromeAdr syndrome

Overview

This syndrome is characterized by progressive ataxia beginning during childhood, deafness and intellectual deficit.

GeneticsAutosomal recessive

Clinical Presentation

Features include: Progressive sensorineural hearing impairment, Ataxia, and Intellectual disability.

Organ System	Phenotype Count	Example Features
Brain and nerves	2	Ataxia, Intellectual disability
Ears	1	Progressive sensorineural hearing impairment

Explore clinical features

Diagnosis

Biomarker and diagnostic research for ataxia - deafness - 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.

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

131 publications have been identified in PubMed for ataxia - deafness - intellectual disability syndrome. Research spans Review / Meta-Analysis (66%), Basic Science / Preclinical (14%), and Case Report / Case Series (8%).

Research Type	Count	% of Total
Research summaries	87	66%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 4:33 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:208850

Orphanet

European rare disease database

Orphanet:1188

GARD

Genetic and Rare Diseases Info Center

GARD:4644

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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ataxia - deafness - intellectual disability syndrome

Overview

Clinical Presentation

Explore clinical features

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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