periventricular nodular heterotopia 8
MONDO:0032588Mondo
Findings
No curated finding names periventricular nodular heterotopia 8 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
8 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.
- Global developmental delayHPOHP:0001263
- 2 of 2 reported patients
- Periventricular nodular heterotopiaHPOHP:0032388
- 2 of 3 reported patients
- SeizureHPOHP:0001250
- 2 of 3 reported patients
- Cerebellar vermis atrophyHPOHP:0006855
- 1 of 2 reported patients
- Delayed CNS myelinationHPOHP:0002188
- 1 of 2 reported patients
- Delayed speech and language developmentHPOHP:0000750
- 1 of 2 reported patients
- Reduced cerebral white matter volumeHPOHP:0034295
- 1 of 2 reported patients
- SpasticityHPOHP:0001257
- 1 of 2 reported patients
Genes
1 gene
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
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · G2P · Autosomal dominant · 2025
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · Ambry Genetics · Autosomal dominant · 2023
Where it sits
- A kind of