Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

polymicrogyria with optic nerve hypoplasia - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

polymicrogyria with optic nerve hypoplasia

MONDO:0013172

Also known as:CDCBM8cortical dysplasia, Complex, with Other brain malformations 8

Overview

A rare genetic syndrome with central nervous system malformations characterized by severe developmental delay, neonatal hypotonia, seizures, optic nerve hypoplasia and distinct central nervous system malformations including extensive bilateral polymicrogyria, dysplastic or absent corpus callosum and malformed brainstem with loss of demarcation of the pontomedullary junction.

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 very common findings: Optic nerve hypoplasia, Nervous system problems (abnormality of the nervous system), Seizure, and Hyporeflexia and others; and common findings: Agenesis of corpus callosum and Bilateral tonic-clonic seizure. 14 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	7	Nervous system problems (abnormality of the nervous system), Seizure, Hyporeflexia

Diagnosis

Biomarker and diagnostic research for polymicrogyria with optic nerve hypoplasia has been reported in the published literature.

Prognosis

Phenotype severity distribution: 9 very common features, 2 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 polymicrogyria with optic nerve hypoplasia.

19 publications have been identified in PubMed for polymicrogyria with optic nerve hypoplasia. Research spans Case Report / Case Series (21%), Epidemiology / Natural History (21%), and Review / Meta-Analysis (16%).

Research Type	Count	% of Total
Patient case studies	4	21%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 7:50 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:613180

Orphanet

European rare disease database

Orphanet:250972

GARD

Genetic and Rare Diseases Info Center

GARD:20687

Questions for Your Care Team

→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

← Back to All Diseases

Kisho

polymicrogyria with optic nerve hypoplasia

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

polymicrogyria with optic nerve hypoplasia

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications