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

Rare Disease

isolated bilateral hemispheric cerebellar hypoplasia

MONDO:0017113

Overview

Isolated bilateral hemispheric cerebellar hypoplasia is a rare cerebellar malformation characterized by hypoplasia of both cerebellar hemispheres with no other cerebellar/cerebral anomaly or other associated clinical feature. Affected patients present with mild hypotonia with motor delay, mild cognitive impairment, language delay, visuospatial and verbal memory deficits, dysdiadochokinesis, intentional tremor, and possible presence of emotional fragility and mild depression.

ResearchLimited published research (3 articles)

Diagnosis

Biomarker and diagnostic research for isolated bilateral hemispheric cerebellar hypoplasia has been reported in the published literature.

Prognosis

Estimated prevalence: Unknown (Unknown prevalence).

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 bilateral hemispheric cerebellar hypoplasia.

3 publications have been identified in PubMed for isolated bilateral hemispheric cerebellar hypoplasia. Research spans Diagnostic / Biomarker (33%), Review / Meta-Analysis (33%), and Epidemiology / Natural History (33%).

Recent Publications

Guo C (2025). [PMID: 40533793](https://pubmed.ncbi.nlm.nih.gov/40533793/). *Eur J Med Res*. [Diagnostic / Biomarker]
Muehlbacher T (2025). [PMID: 39885037](https://pubmed.ncbi.nlm.nih.gov/39885037/). *Cerebellum*. [Review / Meta-Analysis]
Pasca L (2025). [PMID: 39406511](https://pubmed.ncbi.nlm.nih.gov/39406511/). *AJNR Am J Neuroradiol*. [Epidemiology / Natural History]

Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 11:13 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:269221

GARD

Genetic and Rare Diseases Info Center

GARD:20996

Questions for Your Care Team

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isolated bilateral hemispheric cerebellar hypoplasia

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