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periventricular nodular heterotopia 7 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

periventricular nodular heterotopia 7

MONDO:0014966

Also known as:NEDD4L periventricular nodular heterotopiaPVNH7periventricular nodular heterotopia 7; PVNH7

Overview

Any periventricular nodular heterotopia in which the cause of the disease is a mutation in the NEDD4L gene.

GeneticsAutosomal dominant · NEDD4L (chr 18)

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 always present findings: Global developmental delay, Gray matter heterotopia, and Periventricular nodular heterotopia; and common findings: Cleft palate, 2-3 toe syndactyly, Axial hypotonia, and Cryptorchidism. 53 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	9	Seizure, Ataxia, Intellectual disability

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

NEDD4L encodes NEDD4 like E3 ubiquitin protein ligase (975 aa). E3 ubiquitin-protein ligase that mediates the polyubiquitination of lysine and cysteine residues on target proteins and is thereby implicated in the regulation of various signaling pathways including autophagy, innate immunity or DNA repair. Highest expression in Brain Cerebellar Hemisphere (26.6 TPM) and Prostate (26.4 TPM).

Periventricular nodular heterotopia 7 is caused by mutations in the NEDD4L gene on chromosome 18.

NEDD4L is classified as a druggable target (Enzyme category) with score 5.8.

Diagnosis

Genetic testing for NEDD4L is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for periventricular nodular heterotopia 7 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 3 always present features, 4 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 periventricular nodular heterotopia 7.

11 publications have been identified in PubMed for periventricular nodular heterotopia 7. Research spans Diagnostic / Biomarker (27%), Case Report / Case Series (27%), and Epidemiology / Natural History (27%).

Research Type	Count	% of Total
Testing and diagnosis research	3	27%

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 1:09 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:617201

GARD

Genetic and Rare Diseases Info Center

GARD:16210

Questions for Your Care Team

→Should I pursue genetic testing for NEDD4L, and what would the results mean for my family?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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Kisho

periventricular nodular heterotopia 7

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

Latest News & Developments

Gene variants in periventricular nodular heterotopia.

periventricular nodular heterotopia 7

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

Latest News & Developments

Gene variants in periventricular nodular heterotopia.