congenital stationary night blindness 1A
Findings
No curated finding names congenital stationary night blindness 1A yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A congenital stationary night blindness caused by variants in the X-linked NYX gene.
Definition from the Mondo Disease Ontology (MONDO:0010690), read 2026-09-29. CC BY 4.0.
- Inheritance
- X-linked recessive inheritance
- Onset and course
- Childhood onset
HPO, annotations 2026-09-02
Features
2 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.
- Early-onset non-progressive night blindnessHPOHP:0007642
- 5 of 5 reported patients
- High myopiaHPOHP:0011003
- 4 of 5 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.
- NYXHGNC:8082
- Definitive · G2P · X-linked · 2015
- Strong · Labcorp Genetics (formerly Invitae) · X-linked · 2022
- Strong · PanelApp Australia · X-linked · 2025
Where it sits
Other names
9 names
Resolves to: congenital stationary night blindness 1A
- Also called
- congenital stationary night blindness caused by mutation in NYXcongenital stationary night blindness type 1ACSNB1Ahemeralopia-myopiamyopia-night blindnessnight blindness, congenital stationary (complete), 1A, X-linked, X-linked recessivenight blindness, congenital stationary, type 1ANYX congenital stationary night blindnessNYX-related congenital stationary night blindness