Leber congenital amaurosis 4
MONDO:0011458Mondo
Findings
No curated finding names Leber congenital amaurosis 4 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 AIPL1 gene.
Definition from the Mondo Disease Ontology (MONDO:0011458), 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.
- AIPL1HGNC:359
- Definitive · G2P · Autosomal recessive · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
Where it sits
Other names
4 names
Resolves to: Leber congenital amaurosis 4
- Also called
- AIPL1 Leber congenital amaurosisLCA4Leber congenital amaurosis caused by mutation in AIPL1Leber congenital amaurosis type 4