Senior-Loken syndrome 6
MONDO:0012433Mondo
Findings
No curated finding names Senior-Loken syndrome 6 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any Senior-Loken syndrome in which the cause of the disease is a mutation in the CEP290 gene.
Definition from the Mondo Disease Ontology (MONDO:0012433), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- 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.
- Reduced visual acuityHPOHP:0007663
- 2 of 2 reported patients · Childhood onset
- Rod-cone dystrophyHPOHP:0000510
- 2 of 2 reported patients
- Stage 5 chronic kidney diseaseHPOHP:0003774
- 2 of 2 reported patients · Juvenile onset
- Visual impairmentHPOHP:0000505
- 2 of 2 reported patients · Childhood onset
- Aplasia/Hypoplasia of the cerebellar vermisHPOHP:0006817
- 0 of 2 reported patients
Where it sits
Other names
3 names
Resolves to: Senior-Loken syndrome 6
- Also called
- CEP290 Senior-Loken syndromeSenior-Loken syndrome caused by mutation in CEP290Senior-Loken syndrome type 6