periventricular nodular heterotopia 7
Findings
No curated finding names periventricular nodular heterotopia 7 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 NEDD4L gene.
Definition from the Mondo Disease Ontology (MONDO:0014966), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Congenital onset · Infantile onset · Neonatal onset
HPO, annotations 2026-09-02
Features
53 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
- 7 of 7 reported patients
- Gray matter heterotopiaHPOHP:0002282
- 7 of 7 reported patients
- Periventricular nodular heterotopiaHPOHP:0032388
- 7 of 7 reported patients
- 2-3 toe syndactylyHPOHP:0004691
- 5 of 7 reported patients
- Axial hypotoniaHPOHP:0008936
- 4 of 7 reported patients
- Cleft palateHPOHP:0000175
- 4 of 7 reported patients
- CryptorchidismHPOHP:0000028
Show the remaining 41
- 4-5 finger cutaneous syndactylyHPOHP:0010705
- 1 of 7 reported patients
- Anteverted naresHPOHP:0000463
- 1 of 7 reported patients
- AtaxiaHPOHP:0001251
- 1 of 7 reported patients
- Cerebral visual impairmentHPOHP:0100704
- 1 of 7 reported patients
- Choroid plexus cystHPOHP:0002190
- 1 of 7 reported patients
- Contracture of the proximal interphalangeal joint of the 2nd fingerHPOHP:0009540
- 1 of 7 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.
- NEDD4LHGNC:7728
- Definitive · ClinGen · Autosomal dominant · 2021
- Strong · Ambry Genetics · Autosomal dominant · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · G2P · Autosomal dominant · 2018
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
- A kind of
Other names
5 names
Resolves to: periventricular nodular heterotopia 7
- Also called
- NEDD4L periventricular nodular heterotopiaperiventricular nodular heterotopia 7; PVNH7periventricular nodular heterotopia caused by mutation in NEDD4Lperiventricular nodular heterotopia type 7PVNH7