ectopia lentis et pupillae
MONDO:0009153Mondo
Findings
No curated finding names ectopia lentis et pupillae yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
7 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.
- Ectopia pupillaeHPOHP:0009918
- 10 of 10 reported patients
- Ectopia lentisHPOHP:0001083
- 5 of 10 reported patients
- Iris transillumination defectHPOHP:0012805
- 5 of 10 reported patients
- High myopiaHPOHP:0011003
- 2 of 10 reported patients
- Persistent pupillary membraneHPOHP:0009917
- 2 of 10 reported patients
- Retinal detachmentHPOHP:0000541
- 1 of 10 reported patients
- CataractHPOHP:0000518
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
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · Laboratory for Molecular Medicine · Autosomal recessive · 2020