Leber congenital amaurosis 12
MONDO:0012525Mondo
Findings
No curated finding names Leber congenital amaurosis 12 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any Leber congenital amaurosis in which the cause of the disease is a mutation in the RD3 gene.
Definition from the Mondo Disease Ontology (MONDO:0012525), read 2026-09-29. CC BY 4.0.
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.
- RD3HGNC:19689
- Definitive · G2P · Autosomal recessive · 2017
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2018
Where it sits
Other names
4 names
Resolves to: Leber congenital amaurosis 12
- Also called
- LCA12Leber congenital amaurosis caused by mutation in RD3Leber congenital amaurosis type 12RD3 Leber congenital amaurosis