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Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome.
200 publications have been identified in PubMed for severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome. Kisho has analyzed 13 by research type. Research spans Review / Meta-Analysis (54%), Case Report / Case Series (31%), and Clinical Trial Publication (8%).
Research Type | Count | % of Total |
|---|---|---|
Research summaries | 7 |
Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 11:34 PM UTC
European rare disease database
Genetic and Rare Diseases Info Center
Patient case studies | 4 | 31% |
Clinical study results | 1 | 8% |
Laboratory research | 1 | 8% |
Sanghera AS (2026). [PMID: 38261705](https://pubmed.ncbi.nlm.nih.gov/38261705/). *Unknown Journal*. [Basic Science / Preclinical]
Verbinnen I (2025). [PMID: 39978342](https://pubmed.ncbi.nlm.nih.gov/39978342/). *Am J Hum Genet*. [Clinical Trial Publication]
Hingar S (2025). [PMID: 40409799](https://pubmed.ncbi.nlm.nih.gov/40409799/). *Adv Genet*. [Review / Meta-Analysis]
Okamoto N (2025). [PMID: 40546132](https://pubmed.ncbi.nlm.nih.gov/40546132/). *Am J Med Genet A*. [Case Report / Case Series]
Chakraborty S (2025). [PMID: 40131620](https://pubmed.ncbi.nlm.nih.gov/40131620/). *Indian J Pediatr*. [Case Report / Case Series]
Vasquez A (2025). [PMID: 40836583](https://pubmed.ncbi.nlm.nih.gov/40836583/). *Dev Med Child Neurol*. [Review / Meta-Analysis]
Godler DE (2025). [PMID: 39804213](https://pubmed.ncbi.nlm.nih.gov/39804213/). *Curr Opin Psychiatry*. [Review / Meta-Analysis]
Guillouet C (2025). [PMID: 40081376](https://pubmed.ncbi.nlm.nih.gov/40081376/). *Am J Hum Genet*. [Case Report / Case Series]
Vos N (2024). [PMID: 38605127](https://pubmed.ncbi.nlm.nih.gov/38605127/). *Eur J Hum Genet*. [Case Report / Case Series]
Furia F (2024). [PMID: 38988293](https://pubmed.ncbi.nlm.nih.gov/38988293/). *Clin Genet*. [Review / Meta-Analysis]