Senior-Loken syndrome 7
MONDO:0013326Mondo
Findings
No curated finding names Senior-Loken syndrome 7 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 SDCCAG8 gene.
Definition from the Mondo Disease Ontology (MONDO:0013326), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
3 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.
- NephronophthisisHPOHP:0000090
- 20 of 20 reported patients
- Mild intellectual disabilityHPOHP:0001256
- 6 of 19 reported patients
- Retinal degenerationHPOHP:0000546
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.
- SDCCAG8HGNC:10671
- Definitive · G2P · Autosomal recessive · 2017
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Moderate · Ambry Genetics · Autosomal recessive · 2020
Where it sits
Other names
3 names
Resolves to: Senior-Loken syndrome 7
- Also called
- SDCCAG8 Senior-Loken syndromeSenior-Loken syndrome caused by mutation in SDCCAG8Senior-Loken syndrome type 7