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partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome

MONDO:0018430

Overview

A rare, hereditary, cerebral malformation with epilepsy syndrome characterized by severe global developmental delay with no ability to walk and no verbal language, intractable epilepsy, partial agenesis of the corpus callosum and cerebellar vermis hypoplasia with posterior fossa cysts.

ResearchLimited published research (4 articles)

Diagnosis

Biomarker and diagnostic research for partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome has been reported in the published literature.

Prognosis

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome.

4 publications have been identified in PubMed for partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome. Research spans Review / Meta-Analysis (50%), Diagnostic / Biomarker (25%), and Case Report / Case Series (25%).

Recent Publications

Ocampo-Navia MI (2025). [PMID: 40445443](https://pubmed.ncbi.nlm.nih.gov/40445443/). *Childs Nerv Syst*. [Review / Meta-Analysis]
Li W (2025). [PMID: 41258163](https://pubmed.ncbi.nlm.nih.gov/41258163/). *Hum Genomics*. [Diagnostic / Biomarker]
Pogledic I (2024). [PMID: 39054600](https://pubmed.ncbi.nlm.nih.gov/39054600/). *Brain*. [Review / Meta-Analysis]
Alhashimi I (2024). [PMID: 39435230](https://pubmed.ncbi.nlm.nih.gov/39435230/). *Cureus*. [Case Report / Case Series]

Data assembled from 3 of 12 sources · Last updated Sep 18, 2026, 8:36 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:401959

GARD

Genetic and Rare Diseases Info Center

GARD:21707

Questions for Your Care Team

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partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome

Overview

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team