achromatopsia 3
MONDO:0009875Mondo
Findings
No curated finding names achromatopsia 3 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any achromatopsia in which the cause of the disease is a mutation in the CNGB3 gene.
Definition from the Mondo Disease Ontology (MONDO:0009875), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
5 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.
- Moderately reduced visual acuityHPOHP:0030515
- 3 of 3 reported patients
- NystagmusHPOHP:0000639
- 3 of 3 reported patients
- PhotophobiaHPOHP:0000613
- 3 of 3 reported patients
- AchromatopsiaHPOHP:0011516
- 2 of 3 reported patients
- DyschromatopsiaHPOHP:0007641
- 1 of 3 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.
- CNGB3HGNC:2153
- Definitive · G2P · Autosomal recessive · 2021
- Definitive · Natera · Autosomal recessive · 2022
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
Where it sits
Other names
4 names
Resolves to: achromatopsia 3
- Also called
- ACHM3achromatopsia caused by mutation in CNGB3achromatopsia type 3CNGB3 achromatopsia