Leber congenital amaurosis 19
MONDO:0032794Mondo
Findings
No curated finding names Leber congenital amaurosis 19 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
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.
- Optic disc pallorHPOHP:0000543
- 2 of 2 reported patients
- NystagmusHPOHP:0000639
- 1 of 2 reported patients
- Attenuation of retinal blood vesselsHPOHP:0007843
- Decreased light- and dark-adapted electroretinogram amplitudeHPOHP:0000654
- Retinal degenerationHPOHP:0000546
- Visual impairmentHPOHP:0000505
- Childhood onset
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.
- USP45HGNC:20080
- Strong · G2P · Autosomal recessive · 2018
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2019
Where it sits
- A kind of