cone-rod dystrophy 24
MONDO:0957240Mondo
Findings
No curated finding names cone-rod dystrophy 24 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Middle age onset · Childhood onset
HPO, annotations 2026-09-02
Features
13 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.
- Attenuation of retinal blood vesselsHPOHP:0007843
- 1 of 1 reported patient
- Macular degenerationHPOHP:0000608
- 1 of 1 reported patient
- Macular drusenHPOHP:0030499
- 1 of 1 reported patient
- Pigmentary retinopathyHPOHP:0000580
- 1 of 1 reported patient
- ScotomaHPOHP:0000575
- 1 of 1 reported patient
- Cone/cone-rod dystrophyHPOHP:0000548
- 2 of 3 reported patients
- NyctalopiaHPOHP:0000662
- 2 of 3 reported patients
- PhotophobiaHPOHP:0000613
- 2 of 3 reported patients
- Color vision defectHPOHP:0000551
- 1 of 2 reported patients
- Macular atrophyHPOHP:0007401
- 1 of 2 reported patients
- MyopiaHPOHP:0000545
- 1 of 2 reported patients
- Pericentral scotomaHPOHP:0007761
- 1 of 2 reported patients
Show the remaining 1
- Reduced visual acuityHPOHP:0007663
- 1 of 2 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.
- UNC119HGNC:12565
- Moderate · PanelApp Australia · Autosomal dominant · 2025
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2023
Where it sits
- A kind of