exudative vitreoretinopathy 2, X-linked
Findings
No curated finding names exudative vitreoretinopathy 2, X-linked yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any exudative vitreoretinopathy in which the cause of the disease is a mutation in the NDP gene.
Definition from the Mondo Disease Ontology (MONDO:0010588), read 2026-09-29. CC BY 4.0.
- Inheritance
- X-linked recessive inheritance
- Onset and course
- Infantile onset · Childhood onset
HPO, annotations 2026-09-02
Features
11 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.
- Reduced visual acuityHPOHP:0007663
- 4 of 4 reported patients
- Avascular peripheral retinaHPOHP:0007685
- 3 of 4 reported patients
- Retinal detachmentHPOHP:0000541
- 3 of 4 reported patients
- High myopiaHPOHP:0011003
- 1 of 4 reported patients
- Retinal foldHPOHP:0008052
- 1 of 4 reported patients
- Retinal neovascularizationHPOHP:0030666
- 1 of 4 reported patients
- Retinal vascular tortuosityHPOHP:0012841
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.
- NDPHGNC:7678
- Definitive · G2P · X-linked · 2017
- Strong · Labcorp Genetics (formerly Invitae) · X-linked · 2022
Where it sits
Other names
3 names
Resolves to: exudative vitreoretinopathy 2, X-linked
- Also called
- exudative vitreoretinopathy 2, X-linked, X-linked recessive, X-linked dominantexudative vitreoretinopathy caused by mutation in NDPNDP exudative vitreoretinopathy