microphthalmia, isolated, with coloboma 9
Findings
No curated finding names microphthalmia, isolated, with coloboma 9 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 TENM3 gene.
Definition from the Mondo Disease Ontology (MONDO:0014059), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
6 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.
- Iris colobomaHPOHP:0000612
- 2 of 2 reported patients
- MicrocorneaHPOHP:0000482
- 2 of 2 reported patients
- MicrophthalmiaHPOHP:0000568
- 2 of 2 reported patients
- Reduced visual acuityHPOHP:0007663
- 2 of 2 reported patients
- Visual impairmentHPOHP:0000505
- 2 of 2 reported patients
- Macular pseudocolobomaHPOHP:0001116
- 1 of 2 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.
- TENM3HGNC:29944
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Strong · G2P · Autosomal recessive · 2018
- Moderate · Ambry Genetics · Autosomal recessive · 2019
Where it sits
Other names
4 names
Resolves to: microphthalmia, isolated, with coloboma 9
- Also called
- microphthalmia, isolated, with coloboma caused by mutation in TENM3microphthalmia, isolated, with coloboma type 9microphthalmia, syndromic 15TENM3 microphthalmia, isolated, with coloboma