cone-rod dystrophy 21
MONDO:0014669Mondo
Findings
No curated finding names cone-rod dystrophy 21 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 DRAM2 gene.
Definition from the Mondo Disease Ontology (MONDO:0014669), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Young adult onset
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.
- NyctalopiaHPOHP:0000662
- Occasional (5% to 29% of cases)
- PhotophobiaHPOHP:0000613
- Occasional (5% to 29% of cases)
- Macular atrophyHPOHP:0007401
- Reduced visual acuityHPOHP:0007663
- Retinal dystrophyHPOHP:0000556
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.
- DRAM2HGNC:28769
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · G2P · Autosomal recessive · 2017
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
3 names
Resolves to: cone-rod dystrophy 21
- Also called
- cone-rod dystrophy caused by mutation in DRAM2cone-rod dystrophy type 21DRAM2 cone-rod dystrophy