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Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for blepharophimosis - intellectual disability syndrome.
13 publications have been identified in PubMed for blepharophimosis - intellectual disability syndrome. Research spans Case Report / Case Series (54%), Basic Science / Preclinical (23%), and Review / Meta-Analysis (15%).
Research Type | Count | % of Total |
|---|---|---|
Patient case studies | 7 | 54% |
Data assembled from 3 of 12 sources · Last updated Sep 19, 2026, 9:41 PM UTC
European rare disease database
Genetic and Rare Diseases Info Center
Laboratory research |
3 |
23% |
Research summaries | 2 | 15% |
Disease patterns and progression | 1 | 8% |
Cherkaoui I (2026). [PMID: 41666144](https://pubmed.ncbi.nlm.nih.gov/41666144/). *Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation*. [Case Report / Case Series]
Zhong X (2025). [PMID: 40263164](https://pubmed.ncbi.nlm.nih.gov/40263164/). *Reproductive sciences (Thousand Oaks, Calif.)*. [Case Report / Case Series]
Rasmussen NB (2025). [PMID: 40441421](https://pubmed.ncbi.nlm.nih.gov/40441421/). *European journal of medical genetics*. [Case Report / Case Series]
Maglione V (2025). [PMID: 40277451](https://pubmed.ncbi.nlm.nih.gov/40277451/). *American journal of medical genetics. Part A*. [Review / Meta-Analysis]
Ura H (2025). [PMID: 39986017](https://pubmed.ncbi.nlm.nih.gov/39986017/). *Stem cell research*. [Basic Science / Preclinical]
Colson C (2025). [PMID: 39837771](https://pubmed.ncbi.nlm.nih.gov/39837771/). *Clinical genetics*. [Review / Meta-Analysis]
Galli J (2025). [PMID: 39918173](https://pubmed.ncbi.nlm.nih.gov/39918173/). *American journal of medical genetics. Part A*. [Case Report / Case Series]
Bergamasco MI (2025). [PMID: 40083716](https://pubmed.ncbi.nlm.nih.gov/40083716/). *iScience*. [Basic Science / Preclinical]
Hayashi Y (2025). [PMID: 41432782](https://pubmed.ncbi.nlm.nih.gov/41432782/). *Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery*. [Case Report / Case Series]
Ura H (2025). [PMID: 39986018](https://pubmed.ncbi.nlm.nih.gov/39986018/). *Stem cell research*. [Basic Science / Preclinical]