cone-rod synaptic disorder syndrome, congenital nonprogressive
MONDO:0033543Mondo
Findings
No curated finding names cone-rod synaptic disorder syndrome, 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
11 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.
- Optic disc pallorHPOHP:0000543
- 7 of 7 reported patients
- PhotophobiaHPOHP:0000613
- 7 of 7 reported patients
- Reduced visual acuityHPOHP:0007663
- 6 of 6 reported patients
- Retinal thinning on OCTHPOHP:0030329
- 4 of 4 reported patients
- Autistic behaviorHPOHP:0000729
- 5 of 6 reported patients
- HyperglycemiaHPOHP:0003074
- 3 of 4 reported patients
- NystagmusHPOHP:0000639
- 5 of 7 reported patients
- Delayed speech and language developmentHPOHP:0000750
- 4 of 6 reported patients
- AtaxiaHPOHP:0001251
- 2 of 6 reported patients
- AnxietyHPOHP:0000739
- 1 of 6 reported patients
- Global developmental delayHPOHP:0001263
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.
- RIMS2HGNC:17283
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Strong · G2P · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2024
Where it sits
- A kind of