X-linked cone-rod dystrophy 3
MONDO:0010335Mondo
Findings
No curated finding names X-linked cone-rod dystrophy 3 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- X-linked recessive inheritance
HPO, annotations 2026-09-02
Features
6 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 light- and dark-adapted electroretinogramHPOHP:0008323
- Abnormal macular pigmentationHPOHP:0008002
- Central scotomaHPOHP:0000603
- Color vision defectHPOHP:0000551
- MyopiaHPOHP:0000545
- Visual impairmentHPOHP:0000505
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.
- CACNA1FHGNC:1393
- Strong · Labcorp Genetics (formerly Invitae) · X-linked · 2021
Where it sits
Other names
4 names
Resolves to: X-linked cone-rod dystrophy 3
- Also called
- cone-rod dystrophy, X-linked, 3, X-linked recessivecone-rod dystrophy, X-linked, type 3CORDX3X-linked cone-rod dystrophy type 3