ocular dysgenesis caused by defects in PAX6 regulation
MONDO:0700246Mondo
Findings
No curated finding names ocular dysgenesis caused by defects in PAX6 regulation yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any eye disorder in which the cause of the disease is a variant in the PAX6 gene itself or a variant within another locus that results in defective regulation of the PAX6 gene.
Definition from the Mondo Disease Ontology (MONDO:0700246), 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.
- ELP4HGNC:1171
- Moderate · ClinGen · Autosomal dominant · 2023
Where it sits
- A kind of