periventricular nodular heterotopia
Findings
No curated finding names periventricular nodular heterotopia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Periventricular nodular heterotopia (PNH) is a brain malformation, due to abnormal neuronal migration, in which a subset of neurons fails to migrate into the developing cerebral cortex and remains as nodules that line the ventricular surface. Classical PNH is a rare X-linked dominant disorder far more frequent in females who present normal intelligence to borderline intellectual deficit, epilepsy of variable severity and extra-central nervous system signs, especially cardiovascular defects or coagulopathy. The disorder is generally associated with prenatal lethality in males.
Definition from the Mondo Disease Ontology (MONDO:0020341), read 2026-09-29. CC BY 4.0.
Features
16 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal bleedingHPOHP:0001892
- Very frequent (80% to 99% of cases)
- Gastroesophageal refluxHPOHP:0002020
- Very frequent (80% to 99% of cases)
- HerniaHPOHP:0100790
- Very frequent (80% to 99% of cases)
- Pyloric stenosisHPOHP:0002021
- Very frequent (80% to 99% of cases)
- ScoliosisHPOHP:0002650
- Very frequent (80% to 99% of cases)
- Abnormal heart valve morphologyHPOHP:0001654
- Frequent (30% to 79% of cases)
- Abnormal nervous system morphology
Show the remaining 4
- Thin skinHPOHP:0000963
- Frequent (30% to 79% of cases)
- Aortic aneurysmHPOHP:0004942
- Occasional (5% to 29% of cases)
- Patellar dislocationHPOHP:0002999
- Occasional (5% to 29% of cases)
- Shoulder dislocationHPOHP:0003834
- Occasional (5% to 29% of cases)
Genes
7 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- ARF1HGNC:652
- Definitive · ClinGen · Autosomal dominant · 2024
- Supportive · Orphanet · Autosomal dominant · 2021
- FLNAHGNC:3754
- Definitive · ClinGen · X-linked · 2020
- Strong · PanelApp Australia · X-linked · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
- MAP1BHGNC:6836
- Strong · ClinGen · Autosomal dominant · 2024
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
- ARFGEF2HGNC:15853
- · Orphanet · Autosomal dominant · 2021
Where it sits
- A kind of
- Narrower terms (8)
- chromosome 5Q14.3 deletion syndrome, distal
- heterotopia, periventricular, associated with chromosome 5P anomalies
- heterotopia, periventricular, X-linked dominant
- periventricular heterotopia with microcephaly, autosomal recessive
- periventricular nodular heterotopia 6
- periventricular nodular heterotopia 7
- periventricular nodular heterotopia 8
- periventricular nodular heterotopia 9