cataract 23
MONDO:0012489Mondo
Findings
No curated finding names cataract 23 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CRYBA4 gene.
Definition from the Mondo Disease Ontology (MONDO:0012489), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
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.
- MicrocorneaHPOHP:0000482
- 2 of 2 reported patients
- Nuclear cataractHPOHP:0100018
- 2 of 2 reported patients · Congenital onset
- Lamellar cataractHPOHP:0007971
- 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.
- CRYBA4HGNC:2396
- Definitive · G2P · Autosomal dominant · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Moderate · Ambry Genetics · Autosomal dominant · 2018
- Limited · Ambry Genetics · Autosomal recessive · 2024
Where it sits
- A kind of
Other names
4 names
Resolves to: cataract 23
- Also called
- cataract type 23CRYBA4 early-onset non-syndromic cataractCTRCT23early-onset non-syndromic cataract caused by mutation in CRYBA4