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Biomarker and diagnostic research for X-linked intellectual disability-hypotonia-movement disorder syndrome has been reported in the published literature.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for X-linked intellectual disability-hypotonia-movement disorder syndrome.
202 publications have been identified in PubMed for X-linked intellectual disability-hypotonia-movement disorder syndrome. Kisho has analyzed 131 by research type. Research spans Case Report / Case Series (33%), Basic Science / Preclinical (30%), and Review / Meta-Analysis (20%).
Research Type | Count | % of Total |
|---|---|---|
Patient case studies | 43 |
Data assembled from 3 of 12 sources · Last updated Sep 18, 2026, 8:35 PM UTC
European rare disease database
Genetic and Rare Diseases Info Center
Common questions about X-linked intellectual disability-hypotonia-movement disorder syndrome
Laboratory research | 39 | 30% |
Research summaries | 26 | 20% |
Disease patterns and progression | 15 | 11% |
New treatment approaches | 4 | 3% |
Testing and diagnosis research | 2 | 2% |
Clinical study results | 2 | 2% |
Alexander JL (2026). [PMID: 41346295](https://pubmed.ncbi.nlm.nih.gov/41346295/). *Blood Adv*. [Basic Science / Preclinical]
Duan H (2026). [PMID: 42244324](https://pubmed.ncbi.nlm.nih.gov/42244324/). *Zhong Nan Da Xue Xue Bao Yi Xue Ban*. [Review / Meta-Analysis]
Zhao Y (2026). [PMID: 41705901](https://pubmed.ncbi.nlm.nih.gov/41705901/). *Prenat Diagn*. [Review / Meta-Analysis]
Quesnel K (2026). [PMID: 41724591](https://pubmed.ncbi.nlm.nih.gov/41724591/). *Autism Res*. [Basic Science / Preclinical]
VanSickle EA (2026). [PMID: 41410504](https://pubmed.ncbi.nlm.nih.gov/41410504/). *Am J Med Genet A*. [Review / Meta-Analysis]
Miller JS (2026). [PMID: 41260060](https://pubmed.ncbi.nlm.nih.gov/41260060/). *Pediatr Neurol*. [Epidemiology / Natural History]
Dutta D (2026). [PMID: 41741118](https://pubmed.ncbi.nlm.nih.gov/41741118/). *BMJ Case Rep*. [Case Report / Case Series]
Nunes IS (2026). [PMID: 41087597](https://pubmed.ncbi.nlm.nih.gov/41087597/). *J Hum Genet*. [Case Report / Case Series]
Sidorina A (2026). [PMID: 41429203](https://pubmed.ncbi.nlm.nih.gov/41429203/). *J Lipid Res*. [Diagnostic / Biomarker]
Boelaert K (2026). [PMID: 41508830](https://pubmed.ncbi.nlm.nih.gov/41508830/). *J Clin Endocrinol Metab*. [Review / Meta-Analysis]