cone-rod dystrophy 15
MONDO:0013348Mondo
Findings
No curated finding names cone-rod dystrophy 15 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any cone-rod dystrophy in which the cause of the disease is a mutation in the CDHR1 gene.
Definition from the Mondo Disease Ontology (MONDO:0013348), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
8 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.
- Progressive visual lossHPOHP:0000529
- 6 of 6 reported patients
- NyctalopiaHPOHP:0000662
- Occasional (5% to 29% of cases)
- PhotophobiaHPOHP:0000613
- Occasional (5% to 29% of cases)
- Attenuation of retinal blood vesselsHPOHP:0007843
- Color vision defectHPOHP:0000551
- Constriction of peripheral visual fieldHPOHP:0001133
- Retinal pigment epithelial atrophyHPOHP:0007722
- Rod-cone dystrophyHPO
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.
- CDHR1HGNC:14550
- Definitive · Ambry Genetics · Autosomal recessive · 2023
- Definitive · G2P · Autosomal recessive · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
Where it sits
Other names
4 names
Resolves to: cone-rod dystrophy 15
- Also called
- CDHR1 cone-rod dystrophycone-rod dystrophy caused by mutation in CDHR1cone-rod dystrophy type 15CORD15