ectopia lentis 2, isolated, autosomal recessive
MONDO:0009152Mondo
Findings
No curated finding names ectopia lentis 2, isolated, autosomal recessive yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
An isolated ectopia lentis that has material basis in homozygous or compound heterozygous mutation in the ADAMTSL4 gene on chromosome 1q21.
Definition from the Mondo Disease Ontology (MONDO:0009152), 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.
- ADAMTSL4HGNC:19706
- Definitive · G2P · Autosomal recessive · 2017
- Strong · Ambry Genetics · Autosomal recessive · 2018
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
Other names
2 names
Resolves to: ectopia lentis 2, isolated, autosomal recessive
- Also called
- ECTOL2ectopia lentis, isolated, autosomal recessive