cataract 46 juvenile-onset
Findings
No curated finding names cataract 46 juvenile-onset 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 LEMD2 gene.
Definition from the Mondo Disease Ontology (MONDO:0008925), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive 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.
- Juvenile cataractHPOHP:0001118
- 19 of 19 reported patients
- ArrhythmiaHPOHP:0011675
- 14 of 19 reported patients
- Sudden cardiac deathHPOHP:0001645
- 5 of 19 reported patients · Adult 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.
- LEMD2HGNC:21244
- Strong · G2P · Autosomal recessive · 2017
- Moderate · PanelApp Australia · Autosomal recessive · 2025
- Limited · Ambry Genetics · Autosomal recessive · 2023
- Limited · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
Where it sits
- A kind of
Other names
3 names
Resolves to: cataract 46 juvenile-onset
- Also called
- CTRCT46early-onset non-syndromic cataract caused by mutation in LEMD2LEMD2 early-onset non-syndromic cataract