cone-rod dystrophy 12
MONDO:0012983Mondo
Findings
No curated finding names cone-rod dystrophy 12 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any cone-rod dystrophy in which the cause of the disease is a mutation in the PROM1 gene.
Definition from the Mondo Disease Ontology (MONDO:0012983), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance · Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
7 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- and dark-adapted electroretinogramHPOHP:0008323
- Bull's eye maculopathyHPOHP:0011504
- Central scotomaHPOHP:0000603
- Color vision defectHPOHP:0000551
- Cone/cone-rod dystrophyHPOHP:0000548
- NyctalopiaHPOHP:0000662
- Reduced visual acuityHPOHP:0007663
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.
- PROM1HGNC:9454
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
Where it sits
Other names
4 names
Resolves to: cone-rod dystrophy 12
- Also called
- cone-rod dystrophy caused by mutation in PROM1cone-rod dystrophy type 12CORD12PROM1 cone-rod dystrophy