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autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome

MONDO:0018446

Find Clinical TrialsTrials

Overview

OnsetCHILDHOOD, INFANTILE, ADULT

Clinical Trials1 registered · 1 recruiting

ResearchLimited published research (1 article)

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.

1 publication has been identified in PubMed for autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome. Research spans Case Report / Case Series (100%).

Recent Publications

Colona VL (2025). [PMID: 41457191](https://pubmed.ncbi.nlm.nih.gov/41457191/). *Neurol Sci*. [Case Report / Case Series]

Data assembled from 4 of 12 sources · Last updated Sep 21, 2026, 2:32 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:404481

GARD

Genetic and Rare Diseases Info Center

GARD:21719

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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autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome

Overview

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

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Questions for Your Care Team

Questions for Your Care Team