Leber congenital amaurosis 16
Findings
No curated finding names Leber congenital amaurosis 16 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 KCNJ13 gene.
Definition from the Mondo Disease Ontology (MONDO:0013613), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset · Neonatal onset
HPO, annotations 2026-09-02
Features
6 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.
- CataractHPOHP:0000518
- 3 of 3 reported patients · Young adult onset
- NystagmusHPOHP:0000639
- 3 of 3 reported patients · Congenital onset
- Reduced visual acuityHPOHP:0007663
- 3 of 3 reported patients
- NyctalopiaHPOHP:0000662
- 2 of 3 reported patients
- StrabismusHPOHP:0000486
- 1 of 3 reported patients
- Visual field defectHPOHP:0001123
- 1 of 3 reported patients
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.
- KCNJ13HGNC:6259
- Definitive · G2P · Autosomal recessive · 2017
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
4 names
Resolves to: Leber congenital amaurosis 16
- Also called
- KCNJ13 Leber congenital amaurosisLCA16Leber congenital amaurosis caused by mutation in KCNJ13Leber congenital amaurosis type 16