microphthalmia, isolated, with coloboma 3
Findings
No curated finding names microphthalmia, isolated, with coloboma 3 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any microphthalmia, isolated, with coloboma in which the cause of the disease is a mutation in the VSX2 gene.
Definition from the Mondo Disease Ontology (MONDO:0012408), 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.
- CataractHPOHP:0000518
- Congenital onset
- Iris colobomaHPOHP:0000612
- MicrophthalmiaHPOHP:0000568
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.
- VSX2HGNC:1975
- Definitive · G2P · Autosomal recessive · 2017
- Definitive · Natera · Autosomal recessive · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
Other names
4 names
Resolves to: microphthalmia, isolated, with coloboma 3
- Also called
- microphthalmia with coloboma 3microphthalmia, isolated, with coloboma caused by mutation in VSX2microphthalmia, isolated, with coloboma type 3VSX2 microphthalmia, isolated, with coloboma