cataract 22 multiple types
MONDO:0012336Mondo
Findings
No curated finding names cataract 22 multiple types 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 CRYBB3 gene.
Definition from the Mondo Disease Ontology (MONDO:0012336), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
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.
- CRYBB3HGNC:2400
- Definitive · G2P · Autosomal recessive · 2015
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Moderate · Ambry Genetics · Semidominant · 2018
- Moderate · Ambry Genetics · Autosomal recessive · 2024
- Moderate · G2P · Autosomal dominant · 2024
Where it sits
- A kind of
Other names
4 names
Resolves to: cataract 22 multiple types
- Also called
- cataract 22CRYBB3 early-onset non-syndromic cataractCTRCT22early-onset non-syndromic cataract caused by mutation in CRYBB3