enhanced S-cone syndrome 2
MONDO:0700386Mondo
Findings
No curated finding names enhanced S-cone syndrome 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
An enhanced S-cone syndrome caused by a variation in the NRL gene.
Definition from the Mondo Disease Ontology (MONDO:0700386), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Juvenile onset · Childhood onset
HPO, annotations 2026-09-02
Features
19 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.
- Abnormal electroretinogramHPOHP:0000512
- 1 of 1 reported patient
- AmblyopiaHPOHP:0000646
- 1 of 1 reported patient
- Attenuation of retinal blood vesselsHPOHP:0007843
- 2 of 2 reported patients
- Constriction of peripheral visual fieldHPOHP:0001133
- 5 of 5 reported patients
- Cystoid macular degenerationHPOHP:0008028
- 1 of 1 reported patient
- HypermetropiaHPOHP:0000540
- 3 of 3 reported patients
- Mild myopiaHPO
Show the remaining 7
- Retinal degenerationHPOHP:0000546
- 1 of 1 reported patient
- Retinal thinning on OCTHPOHP:0030329
- 1 of 1 reported patient
- RetinitisHPOHP:0032118
- 2 of 2 reported patients
- EsodeviationHPOHP:0020045
- 2 of 3 reported patients
- NystagmusHPOHP:0000639
- 2 of 3 reported patients
- ExodeviationHPOHP:0020049
- 1 of 3 reported patients
Where it sits
- A kind of