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

Rare Disease

bilateral generalized polymicrogyria

MONDO:0013907

Also known as:microcephaly, short stature, and polymicrogyria with seizuresMSSPPMGYS

Overview

Bilateral generalized polymicrogyria is a rare neurological disorder that affects the cerebral cortex (the outer surface of the brain). This is the most widespread form of polymicrogyria and typically affects the entire surface of the brain. Signs and symptoms include severe intellectual disability, problems with movement, and seizures that are difficult or impossible to treat. While the exact cause of bilateral generalized polymicrogyria is not fully understood, it is thought to be due to improper brain development during embryonic growth. Most cases appear to follow an autosomal recessive pattern of inheritance. Treatment is based on the signs and symptoms present in each person.

Diagnosis

Biomarker and diagnostic research for bilateral generalized polymicrogyria has been reported in the published literature.

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 generalized polymicrogyria.

140 publications have been identified in PubMed for bilateral generalized polymicrogyria. Kisho has analyzed 77 by research type. Research spans Review / Meta-Analysis (38%), Epidemiology / Natural History (19%), and Basic Science / Preclinical (18%).

Research Type	Count	% of Total
Research summaries	29	38%

Data assembled from 3 of 12 sources · Last updated Sep 19, 2026, 11:54 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:208447

GARD

Genetic and Rare Diseases Info Center

GARD:10786

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bilateral generalized polymicrogyria

Overview

Diagnosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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