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Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for intellectual disability-hyperkinetic movement-truncal ataxia syndrome.
106 publications have been identified in PubMed for intellectual disability-hyperkinetic movement-truncal ataxia syndrome. Kisho has analyzed 60 by research type. Research spans Case Report / Case Series (42%), Basic Science / Preclinical (23%), and Review / Meta-Analysis (22%).
Research Type | Count | % of Total |
|---|---|---|
Patient case studies | 25 |
Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 8:44 AM UTC
European rare disease database
Genetic and Rare Diseases Info Center
Laboratory research | 14 | 23% |
Research summaries | 13 | 22% |
Disease patterns and progression | 6 | 10% |
Clinical study results | 1 | 2% |
New treatment approaches | 1 | 2% |
Samanta D (2026). [PMID: 41864145](https://pubmed.ncbi.nlm.nih.gov/41864145/). *Brain Dev*. [Review / Meta-Analysis]
Abu-El-Haija A (2026). [PMID: 41821366](https://pubmed.ncbi.nlm.nih.gov/41821366/). *Am J Med Genet A*. [Case Report / Case Series]
Shokouhian E (2026). [PMID: 39847269](https://pubmed.ncbi.nlm.nih.gov/39847269/). *J Appl Genet*. [Review / Meta-Analysis]
Zhang E (2025). [PMID: 40496977](https://pubmed.ncbi.nlm.nih.gov/40496977/). *Hum Mutat*. [Case Report / Case Series]
Hommersom MP (2025). [PMID: 39460936](https://pubmed.ncbi.nlm.nih.gov/39460936/). *Brain*. [Basic Science / Preclinical]
Matsell E (2025). [PMID: 39662833](https://pubmed.ncbi.nlm.nih.gov/39662833/). *J Biol Chem*. [Basic Science / Preclinical]
Sheth U (2025). [PMID: 40075459](https://pubmed.ncbi.nlm.nih.gov/40075459/). *Mol Neurodegener*. [Epidemiology / Natural History]
Andrade DM (2025). [PMID: 40956029](https://pubmed.ncbi.nlm.nih.gov/40956029/). *Epilepsia*. [Case Report / Case Series]
Ito S (2025). [PMID: 40702043](https://pubmed.ncbi.nlm.nih.gov/40702043/). *Sci Rep*. [Basic Science / Preclinical]
Zhou D (2025). [PMID: 40427560](https://pubmed.ncbi.nlm.nih.gov/40427560/). *Biomolecules*. [Review / Meta-Analysis]