cone-rod dystrophy and hearing loss 1
MONDO:0020778Mondo
Findings
No curated finding names cone-rod dystrophy and hearing loss 1 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
- Young adult onset · 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.
- Macular degenerationHPOHP:0000608
- 3 of 3 reported patients
- Sensorineural hearing impairmentHPOHP:0000407
- 2 of 2 reported patients
- Visual impairmentHPOHP:0000505
- 3 of 3 reported patients
- DyschromatopsiaHPOHP:0007641
- 1 of 3 reported patients
- HemeralopiaHPOHP:0012047
- 1 of 3 reported patients · Young adult onset
- NystagmusHPOHP:0000639
- 1 of 3 reported patients · Adult onset
- PhotophobiaHPOHP:0000613
- 1 of 3 reported patients · Adult onset
- Retinal atrophyHPOHP:0001105
- 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.
- CEP78HGNC:25740
- Strong · Ambry Genetics · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
Where it sits
- A kind of