Senior-Loken syndrome 4
MONDO:0011756Mondo
Findings
No curated finding names Senior-Loken syndrome 4 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 NPHP4 gene.
Definition from the Mondo Disease Ontology (MONDO:0011756), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
1 feature
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.
- Rod-cone dystrophyHPOHP:0000510
- 7 of 21 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.
- NPHP4HGNC:19104
- Definitive · G2P · Autosomal recessive · 2017
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
Where it sits
- A kind of
Other names
3 names
Resolves to: Senior-Loken syndrome 4
- Also called
- NPHP4 Senior-Loken syndromeSenior-Loken syndrome caused by mutation in NPHP4Senior-Loken syndrome type 4