congenital stationary night blindness 1H
Findings
No curated finding names congenital stationary night blindness 1H yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any congenital stationary night blindness in which the cause of the disease is a mutation in the GNB3 gene.
Definition from the Mondo Disease Ontology (MONDO:0014872), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Adult onset · Childhood onset
HPO, annotations 2026-09-02
Features
5 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.
- NyctalopiaHPOHP:0000662
- 3 of 4 reported patients · Childhood onset
- HypermetropiaHPOHP:0000540
- 2 of 4 reported patients
- PhotophobiaHPOHP:0000613
- 2 of 4 reported patients
- Mild myopiaHPOHP:0025573
- 1 of 4 reported patients
- NystagmusHPOHP:0000639
- 0 of 4 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.
- GNB3HGNC:4400
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2018
- Limited · Laboratory for Molecular Medicine · Autosomal recessive · 2020
- Limited · G2P · Autosomal recessive · 2016
Where it sits
Other names
5 names
Resolves to: congenital stationary night blindness 1H
- Also called
- congenital stationary night blindness caused by mutation in GNB3congenital stationary night blindness type 1HCSNB1HGNB3 congenital stationary night blindnessnight blindness, congenital stationary, type 1H