achromatopsia 6
MONDO:0012398Mondo
Findings
No curated finding names achromatopsia 6 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant 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.
- Abnormal light-adapted flicker electroretinogramHPOHP:0030473
- 3 of 3 reported patients
- DyschromatopsiaHPOHP:0007641
- 3 of 3 reported patients
- High myopiaHPOHP:0011003
- 3 of 3 reported patients
- PhotophobiaHPOHP:0000613
- 3 of 3 reported patients
- Reduced visual acuityHPOHP:0007663
- 3 of 3 reported patients
- NystagmusHPOHP:0000639
- 2 of 3 reported patients
- NyctalopiaHPOHP:0000662
- 0 of 2 reported patients
- Cone dystrophyHPOHP:0008020
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.
- PDE6HHGNC:8790
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Strong · G2P · Autosomal recessive · 2018
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Limited · Ambry Genetics · Autosomal recessive · 2024
Where it sits
Other names
4 names
Resolves to: achromatopsia 6
- Also called
- ACHM6RCD3Aretinal cone dystrophy 3Aretinal cone dystrophy type 3A