Leber congenital amaurosis 7
Findings
No curated finding names Leber congenital amaurosis 7 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 CRX gene.
Definition from the Mondo Disease Ontology (MONDO:0013449), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
3 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.
- NystagmusHPOHP:0000639
- 2 of 2 reported patients
- Undetectable electroretinogramHPOHP:0000550
- 2 of 2 reported patients
- Visual impairmentHPOHP:0000505
- 2 of 2 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.
- CRXHGNC:2383
- Definitive · Ambry Genetics · Semidominant · 2018
- Definitive · G2P · Autosomal dominant · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Limited · Ambry Genetics · Autosomal recessive · 2024
Where it sits
Other names
4 names
Resolves to: Leber congenital amaurosis 7
- Also called
- CRX Leber congenital amaurosisLCA7Leber congenital amaurosis caused by mutation in CRXLeber congenital amaurosis type 7