cone-rod dystrophy 22
MONDO:0030440Mondo
Findings
No curated finding names cone-rod dystrophy 22 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Juvenile onset · Young adult onset
HPO, annotations 2026-09-02
Features
10 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.
- Reduced visual acuityHPOHP:0007663
- 4 of 4 reported patients
- Hypoautofluorescent retinal lesionHPOHP:0025159
- 2 of 4 reported patients
- PhotophobiaHPOHP:0000613
- 2 of 4 reported patients
- Absent foveal reflexHPOHP:0030825
- 1 of 4 reported patients
- Attenuation of retinal blood vesselsHPOHP:0007843
- 1 of 4 reported patients
- Bull's eye maculopathyHPOHP:0011504
- 1 of 4 reported patients
- Hyperautofluorescent macular lesionHPOHP:0030631
- 1 of 4 reported patients
- Perifoveal ring of hyperautofluorescenceHPOHP:0030629
- 1 of 4 reported patients
- Retinal pigment epithelial atrophyHPOHP:0007722
- 1 of 4 reported patients
- Undetectable pattern electroretinogramHPOHP:0030844
- 1 of 4 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.
- TLCD3BHGNC:25295
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
1 name
Resolves to: cone-rod dystrophy 22
- Also called
- CORD22