Leber congenital amaurosis 14
MONDO:0013231Mondo
Findings
No curated finding names Leber congenital amaurosis 14 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 LRAT gene.
Definition from the Mondo Disease Ontology (MONDO:0013231), 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.
- LRATHGNC:6685
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · G2P · Autosomal recessive · 2015
- Moderate · Ambry Genetics · Autosomal recessive · 2020
Where it sits
- A kind of
Other names
5 names
Resolves to: Leber congenital amaurosis 14
- Also called
- LCA14Leber congenital amaurosis caused by mutation in LRATLeber congenital amaurosis type 14LRAT Leber congenital amaurosisretinal dystrophy, early-onset severe