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Biomarker and diagnostic research for intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome has been reported in the published literature.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome.
201 publications have been identified in PubMed for intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome. Kisho has analyzed 110 by research type. Research spans Review / Meta-Analysis (34%), Case Report / Case Series (22%), and Basic Science / Preclinical (22%).
Research Type | Count | % of Total |
|---|---|---|
Research summaries | 37 |
Data assembled from 3 of 12 sources · Last updated Sep 21, 2026, 4:54 AM UTC
European rare disease database
Genetic and Rare Diseases Info Center
Patient case studies | 24 | 22% |
Laboratory research | 24 | 22% |
Disease patterns and progression | 15 | 14% |
Testing and diagnosis research | 6 | 5% |
New treatment approaches | 3 | 3% |
Clinical study results | 1 | 1% |
Pichon E (2026). [PMID: 41025404](https://pubmed.ncbi.nlm.nih.gov/41025404/). *Movement disorders clinical practice*. [Review / Meta-Analysis]
Hindermann M (2026). [PMID: 41729076](https://pubmed.ncbi.nlm.nih.gov/41729076/). *JCI Insight*. [Basic Science / Preclinical]
Anderson EN (2026). [PMID: 41468891](https://pubmed.ncbi.nlm.nih.gov/41468891/). *American journal of human genetics*. [Basic Science / Preclinical]
Maripuri DP (2025). [PMID: 40167301](https://pubmed.ncbi.nlm.nih.gov/40167301/). *American journal of medical genetics. Part A*. [Basic Science / Preclinical]
Godler DE (2025). [PMID: 39804213](https://pubmed.ncbi.nlm.nih.gov/39804213/). *Current opinion in psychiatry*. [Review / Meta-Analysis]
Al Ojaimi M (2025). [PMID: 40301961](https://pubmed.ncbi.nlm.nih.gov/40301961/). *Human genomics*. [Review / Meta-Analysis]
Ünsel-Bolat G (2025). [PMID: 41409304](https://pubmed.ncbi.nlm.nih.gov/41409304/). *Molecular syndromology*. [Review / Meta-Analysis]
Le Collen L (2025). [PMID: 39734048](https://pubmed.ncbi.nlm.nih.gov/39734048/). *Annales d'endocrinologie*. [Case Report / Case Series]
De Falco A (2025). [PMID: 39629746](https://pubmed.ncbi.nlm.nih.gov/39629746/). *American journal of medical genetics. Part A*. [Review / Meta-Analysis]
Brunklaus A (2025). [PMID: 39891606](https://pubmed.ncbi.nlm.nih.gov/39891606/). *Epilepsia open*. [Diagnostic / Biomarker]