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bilateral polymicrogyria - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

bilateral polymicrogyria

MONDO:0017091

Overview

Bilateral polymicrogyria is a rare cerebral malformation due to abnormal neuronal migration defined as a cerebral cortex with many excessively small convolutions. It presents with developmental delay, intellectual disability, seizures and various neurological impairments and may be isolated or comprise a clinical feature of many genetic syndromes. It may also be associated with perinatal cytomegalovirus infection.

ResearchLimited published research (6 articles)

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 bilateral polymicrogyria.

6 publications have been identified in PubMed for bilateral polymicrogyria. Research spans Case Report / Case Series (67%), Epidemiology / Natural History (17%), and Gene Therapy / Novel Therapeutics (17%).

Recent Publications

Javed K (2025). [PMID: 41347281](https://pubmed.ncbi.nlm.nih.gov/41347281/). *Annals of human genetics*. [Epidemiology / Natural History]
Laflamme N (2025). [PMID: 39268972](https://pubmed.ncbi.nlm.nih.gov/39268972/). *American journal of medical genetics. Part A*. [Case Report / Case Series]
Carmant LS (2025). [PMID: 40524352](https://pubmed.ncbi.nlm.nih.gov/40524352/). *Prenatal diagnosis*. [Case Report / Case Series]
Qi W (2024). [PMID: 38942087](https://pubmed.ncbi.nlm.nih.gov/38942087/). *Biochemical pharmacology*. [Gene Therapy / Novel Therapeutics]
Mok KM (2024). [PMID: 39395260](https://pubmed.ncbi.nlm.nih.gov/39395260/). *Pediatric neurology*. [Case Report / Case Series]

Data assembled from 3 of 12 sources · Last updated Sep 17, 2026, 8:44 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:268940

GARD

Genetic and Rare Diseases Info Center

GARD:17269

Questions for Your Care Team

→Are there specialists or centers of excellence for this condition in my area?
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bilateral polymicrogyria

Overview

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Subtypes

Related Diseases

Questions for Your Care Team

Questions for Your Care Team