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subependymal nodular heterotopia - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

subependymal nodular heterotopia

MONDO:0015094

Overview

ResearchLimited published research (5 articles)

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: Seizure, Occipital encephalocele, Polymicrogyria, and Abnormality of neuronal migration and others; and sometimes findings: Abnormal forehead morphology, Partial agenesis of the corpus callosum, Prominent glabella, and Visual hallucination and others.

Organ System	Phenotype Count	Example Features
Brain and nerves	7	Seizure, Focal aware seizure, Focal-onset seizure

Prognosis

Phenotype severity distribution: 12 common features.

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 subependymal nodular heterotopia.

5 publications have been identified in PubMed for subependymal nodular heterotopia. Research spans Case Report / Case Series (80%) and Review / Meta-Analysis (20%).

Recent Publications

Song J (2026). [PMID: 42067951](https://pubmed.ncbi.nlm.nih.gov/42067951/). *Acta Epileptol*. [Review / Meta-Analysis]
V P (2025). [PMID: 39726909](https://pubmed.ncbi.nlm.nih.gov/39726909/). *Radiol Case Rep*. [Case Report / Case Series]
Brambila-Tapia AJL (2025). [PMID: 40869917](https://pubmed.ncbi.nlm.nih.gov/40869917/). *Genes (Basel)*. [Case Report / Case Series]
Dhakal N (2025). [PMID: 39897746](https://pubmed.ncbi.nlm.nih.gov/39897746/). *Radiol Case Rep*. [Case Report / Case Series]
Fernandes A (2024). [PMID: 39776704](https://pubmed.ncbi.nlm.nih.gov/39776704/). *Cureus*. [Case Report / Case Series]

Data assembled from 4 of 12 sources · Last updated Sep 18, 2026, 2:55 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:101030

GARD

Genetic and Rare Diseases Info Center

GARD:5050

Questions for Your Care Team

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subependymal nodular heterotopia

Overview

Clinical Presentation

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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