cone dystrophy 4
MONDO:0013129Mondo
Findings
No curated finding names cone dystrophy 4 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any cone dystrophy in which the cause of the disease is a mutation in the PDE6C gene.
Definition from the Mondo Disease Ontology (MONDO:0013129), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Childhood onset
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.
- DyschromatopsiaHPOHP:0007641
- 7 of 7 reported patients
- NystagmusHPOHP:0000639
- 7 of 7 reported patients
- Reduced visual acuityHPOHP:0007663
- 7 of 7 reported patients
- Undetectable light-adapted electroretinogramHPOHP:0030465
- 5 of 6 reported patients
- Absent foveal reflexHPOHP:0030825
- 5 of 7 reported patients
- PhotophobiaHPOHP:0000613
- 5 of 7 reported patients
- Cone/cone-rod dystrophyHPOHP:0000548
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.
- PDE6CHGNC:8787
- Definitive · G2P · Autosomal recessive · 2017
- Strong · Ambry Genetics · Autosomal recessive · 2018
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- Narrower terms (1)
Other names
3 names
Resolves to: cone dystrophy 4
- Also called
- cone dystrophy caused by mutation in PDE6Ccone dystrophy type 4PDE6C cone dystrophy