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sub-cortical nodular heterotopia - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

sub-cortical nodular heterotopia

MONDO:0015093

Overview

ResearchLimited published research (3 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 very common findings: Seizure, Abnormality of neuronal migration, Abnormal cerebral cortex morphology, and Subcortical heterotopia; and common findings: Spasticity, Muscle weakness, Specific learning disability, and Overactive reflexes (hyperreflexia) and others. 15 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	5	Seizure, Abnormal cerebral cortex morphology, Spasticity

Prognosis

Phenotype severity distribution: 4 very common features, 8 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 sub-cortical nodular heterotopia.

3 publications have been identified in PubMed for sub-cortical nodular heterotopia. Research spans Case Report / Case Series (100%).

Recent Publications

Hoogwijs I (2026). [PMID: 41468712](https://pubmed.ncbi.nlm.nih.gov/41468712/). *Eur J Paediatr Neurol*. [Case Report / Case Series]
Dhakal N (2025). [PMID: 39897746](https://pubmed.ncbi.nlm.nih.gov/39897746/). *Radiol Case Rep*. [Case Report / Case Series]
V P (2025). [PMID: 39726909](https://pubmed.ncbi.nlm.nih.gov/39726909/). *Radiol Case Rep*. [Case Report / Case Series]

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 5:49 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:101029

GARD

Genetic and Rare Diseases Info Center

GARD:19775

Questions for Your Care Team

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sub-cortical 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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