isolated microphthalmia 2
Findings
No curated finding names isolated microphthalmia 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any isolated microphthalmia in which the cause of the disease is a mutation in the VSX2 gene.
Definition from the Mondo Disease Ontology (MONDO:0012409), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
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.
- MicrophthalmiaHPOHP:0000568
- 6 of 6 reported patients
- Opacification of the corneal stromaHPOHP:0007759
- 6 of 6 reported patients
- Intellectual disabilityHPOHP:0001249
- 0 of 6 reported patients
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
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- Narrower terms (1)
Other names
5 names
Resolves to: isolated microphthalmia 2
- Also called
- isolated microphthalmia caused by mutation in VSX2isolated microphthalmia type 2MCOP2microphthalmia, isolated type 2VSX2 isolated microphthalmia