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microcephaly-polymicrogyria-corpus callosum agenesis syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

microcephaly-polymicrogyria-corpus callosum agenesis syndrome

MONDO:0015745

Overview

Microcephaly-polymicrogyria-corpus callosum agenesis syndrome is a rare, genetic, central nervous system malformation syndrome characterized by marked prenatal-onset microcephaly, severe motor delay with hypotonia, bilateral polymicrogyria, corpus callosum agenesis, ventricular dilation, small cerebellum and early lethality.

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include common findings: Agenesis of corpus callosum, Cerebellar hypoplasia, Respiratory distress, and Enlarged brain ventricles (ventriculomegaly) and others.

Organ System	Phenotype Count	Example Features
Lungs and breathing	1	Respiratory distress

Diagnosis

Biomarker and diagnostic research for microcephaly-polymicrogyria-corpus callosum agenesis syndrome has been reported in the published literature.

Prognosis

Phenotype severity distribution: 7 common features.

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 microcephaly-polymicrogyria-corpus callosum agenesis syndrome.

174 publications have been identified in PubMed for microcephaly-polymicrogyria-corpus callosum agenesis syndrome. Kisho has analyzed 126 by research type. Research spans Case Report / Case Series (41%), Review / Meta-Analysis (21%), and Basic Science / Preclinical (18%).

Research Type	Count	% of Total
Patient case studies	52	41%

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 4:50 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:171703

GARD

Genetic and Rare Diseases Info Center

GARD:20125

Questions for Your Care Team

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Kisho

microcephaly-polymicrogyria-corpus callosum agenesis syndrome

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

microcephaly-polymicrogyria-corpus callosum agenesis syndrome

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications