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isolated cerebellar vermis hypoplasia - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

isolated cerebellar vermis hypoplasia

MONDO:0016053

Overview

Isolated cerebellar vermis hypoplasia is a rare, non-syndromic cerebellar malformation characterized by an underdeveloped cerebellar vermis. Patients may present a variable phenotype ranging from normal neurodevelopment to motor and/or language delay, variable degrees of cognitive impairment, hypotonia, equilibrium disturbances, static/dynamic ataxia, oculomotor abnormalities, epilepsy and/or clumsiness. Behavioral disorders such as attention deficit hyperactivity disorder and generalized anxiety have also been reported. Brain MRI may reveal diffuse or selective (mostly posterior) vermian cerebellar hypoplasia and EEG may show focal paroxysms.

ResearchLimited published research (8 articles)

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 isolated cerebellar vermis hypoplasia.

8 publications have been identified in PubMed for isolated cerebellar vermis hypoplasia. Research spans Review / Meta-Analysis (63%) and Case Report / Case Series (38%).

Recent Publications

Bremond-Gignac D (2026). [PMID: 41455383](https://pubmed.ncbi.nlm.nih.gov/41455383/). *J Fr Ophtalmol*. [Review / Meta-Analysis]
Ito M (2026). [PMID: 41809274](https://pubmed.ncbi.nlm.nih.gov/41809274/). *Cureus*. [Case Report / Case Series]
Corrêa DG (2025). [PMID: 41423717](https://pubmed.ncbi.nlm.nih.gov/41423717/). *J Clin Ultrasound*. [Review / Meta-Analysis]
Arechvo A (2025). [PMID: 40101304](https://pubmed.ncbi.nlm.nih.gov/40101304/). *Pediatr Neurol*. [Review / Meta-Analysis]
Cutillo G (2025). [PMID: 40100516](https://pubmed.ncbi.nlm.nih.gov/40100516/). *Cerebellum*. [Review / Meta-Analysis]
Parisi N (2025). [PMID: 40785453](https://pubmed.ncbi.nlm.nih.gov/40785453/). *Ultrasound Obstet Gynecol*. [Review / Meta-Analysis]

Data assembled from 3 of 12 sources · Last updated Sep 19, 2026, 4:25 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:199630

GARD

Genetic and Rare Diseases Info Center

GARD:20337

Questions for Your Care Team

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isolated cerebellar vermis hypoplasia

Overview

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team