periventricular nodular heterotopia 6
Findings
No curated finding names periventricular nodular heterotopia 6 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any periventricular nodular heterotopia in which the cause of the disease is a mutation in the ERMARD gene.
Definition from the Mondo Disease Ontology (MONDO:0014240), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Infantile onset
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.
- Delayed speech and language developmentHPOHP:0000750
- 1 of 1 reported patient
- Focal motor seizureHPOHP:0011153
- 1 of 1 reported patient
- HypsarrhythmiaHPOHP:0002521
- 1 of 1 reported patient
- Infantile spasmsHPOHP:0012469
- 1 of 1 reported patient
- Mild global developmental delayHPOHP:0011342
- 1 of 1 reported patient
- Periventricular nodular heterotopiaHPOHP:0032388
- 1 of 1 reported patient
- SeizureHPOHP:0001250
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.
- ERMARDHGNC:21056
- Limited · Ambry Genetics · Autosomal dominant · 2019
- Limited · Ambry Genetics · Autosomal dominant · 2025
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2020
- Limited · G2P · Autosomal dominant · 2010
- Limited · PanelApp Australia · Autosomal dominant · 2025
Where it sits
- A kind of
Other names
3 names
Resolves to: periventricular nodular heterotopia 6
- Also called
- ERMARD periventricular nodular heterotopiaperiventricular nodular heterotopia caused by mutation in ERMARDperiventricular nodular heterotopia type 6