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hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome

MONDO:0018655

Overview

ResearchLimited published research (6 articles)

Diagnosis

Biomarker and diagnostic research for hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum 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 hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome.

6 publications have been identified in PubMed for hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome. Research spans Case Report / Case Series (67%), Diagnostic / Biomarker (17%), and Epidemiology / Natural History (17%).

Recent Publications

Zhou M (2026). [PMID: 41716259](https://pubmed.ncbi.nlm.nih.gov/41716259/). *Front Genet*. [Case Report / Case Series]
Paucar M (2025). [PMID: 39831730](https://pubmed.ncbi.nlm.nih.gov/39831730/). *Mov Disord*. [Case Report / Case Series]
Oikarainen JH (2025). [PMID: 39080972](https://pubmed.ncbi.nlm.nih.gov/39080972/). *Dev Med Child Neurol*. [Diagnostic / Biomarker]
Kaur N (2025). [PMID: 39470296](https://pubmed.ncbi.nlm.nih.gov/39470296/). *Am J Med Genet A*. [Epidemiology / Natural History]
Marsili L (2025). [PMID: 40498034](https://pubmed.ncbi.nlm.nih.gov/40498034/). *Mov Disord Clin Pract*. [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:447893

GARD

Genetic and Rare Diseases Info Center

GARD:17773

Questions for Your Care Team

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hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum 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