cone-rod synaptic disorder, congenital nonprogressive
MONDO:0012490Mondo
Findings
No curated finding names cone-rod synaptic disorder, congenital nonprogressive yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
4 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.
- Early-onset non-progressive night blindnessHPOHP:0007642
- ERG: Reduced dark-adapted b-wave amplitudeHPOHP:0007984
- NystagmusHPOHP:0000639
- Visual impairmentHPOHP:0000505
Genes
2 genes
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.