isolated microphthalmia 3
MONDO:0012604Mondo
Findings
No curated finding names isolated microphthalmia 3 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 RAX gene.
Definition from the Mondo Disease Ontology (MONDO:0012604), 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.
- RAXHGNC:18662
- Definitive · G2P · Autosomal recessive · 2017
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2019
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
Other names
5 names
Resolves to: isolated microphthalmia 3
- Also called
- isolated microphthalmia caused by mutation in RAXisolated microphthalmia type 3MCOP3microphthalmia, isolated type 3RAX isolated microphthalmia