nystagmus 6, congenital, X-linked
MONDO:0010435Mondo
Findings
No curated finding names nystagmus 6, congenital, X-linked yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- X-linked recessive inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
6 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
- 6 of 6 reported patients
- AstigmatismHPOHP:0000483
- 5 of 6 reported patients
- Horizontal nystagmusHPOHP:0000666
- 5 of 6 reported patients
- Retinal pigment epithelial mottlingHPOHP:0007814
- 4 of 6 reported patients
- Fundus hypopigmentationHPOHP:0007894
- 0 of 6 reported patients
- AmblyopiaHPOHP:0000646
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.
- GPR143HGNC:20145
- Strong · Labcorp Genetics (formerly Invitae) · X-linked · 2021
Where it sits
Other names
1 name
Resolves to: nystagmus 6, congenital, X-linked
- Also called
- nystagmus 6, congenital, X-linked, X-linked recessive