brittle cornea syndrome 1
MONDO:0024543Mondo
Findings
No curated finding names brittle cornea syndrome 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any brittle cornea syndrome in which the cause of the disease is a mutation in the ZNF469 gene.
Definition from the Mondo Disease Ontology (MONDO:0024543), read 2026-09-29. CC BY 4.0.
Features
1 feature
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.
- Decreased corneal thicknessHPOHP:0100689
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.
- HGNC:23216HGNC:23216
- Definitive · G2P · Autosomal recessive · 2017
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
2 names
Resolves to: brittle cornea syndrome 1
- Also called
- brittle cornea syndrome caused by mutation in ZNF469ZNF469 brittle cornea syndrome