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Biomarker and diagnostic research for corpus callosum agenesis-macrocephaly-hypertelorism syndrome has been reported in the published literature.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for corpus callosum agenesis-macrocephaly-hypertelorism syndrome.
203 publications have been identified in PubMed for corpus callosum agenesis-macrocephaly-hypertelorism syndrome. Kisho has analyzed 80 by research type. Research spans Case Report / Case Series (29%), Basic Science / Preclinical (24%), and Review / Meta-Analysis (23%).
Research Type | Count | % of Total |
|---|---|---|
Patient case studies | 23 | 29% |
Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 5:41 PM UTC
European rare disease database
Genetic and Rare Diseases Info Center
Laboratory research |
19 |
24% |
Research summaries | 18 | 23% |
Disease patterns and progression | 10 | 13% |
Testing and diagnosis research | 7 | 9% |
New treatment approaches | 2 | 3% |
Clinical study results | 1 | 1% |
Blihar D (2026). [PMID: 41192505](https://pubmed.ncbi.nlm.nih.gov/41192505/). *World Neurosurg*. [Review / Meta-Analysis]
Okamoto N (2026). [PMID: 41622991](https://pubmed.ncbi.nlm.nih.gov/41622991/). *Am J Med Genet A*. [Case Report / Case Series]
LeFebre NM (2026). [PMID: 41494597](https://pubmed.ncbi.nlm.nih.gov/41494597/). *Neuropsychologia*. [Case Report / Case Series]
Tian TY (2026). [PMID: 30252263](https://pubmed.ncbi.nlm.nih.gov/30252263/). *Unknown Journal*. [Epidemiology / Natural History]
Miremberg H (2026). [PMID: 41353713](https://pubmed.ncbi.nlm.nih.gov/41353713/). *Prenat Diagn*. [Epidemiology / Natural History]
Chizhova KA (2026). [PMID: 41668579](https://pubmed.ncbi.nlm.nih.gov/41668579/). *Zh Vopr Neirokhir Im N N Burdenko*. [Review / Meta-Analysis]
Serpieri V (2026). [PMID: 41720098](https://pubmed.ncbi.nlm.nih.gov/41720098/). *Am J Hum Genet*. [Basic Science / Preclinical]
Dieterich M (2026). [PMID: 41262047](https://pubmed.ncbi.nlm.nih.gov/41262047/). *Curr Opin Neurol*. [Review / Meta-Analysis]
Oelmeier K (2026). [PMID: 41994461](https://pubmed.ncbi.nlm.nih.gov/41994461/). *Front Med (Lausanne)*. [Case Report / Case Series]
Romeo M (2025). [PMID: 40565916](https://pubmed.ncbi.nlm.nih.gov/40565916/). *J Clin Med*. [Epidemiology / Natural History]