microphthalmia/coloboma 11
MONDO:0958239Mondo
Findings
No curated finding names microphthalmia/coloboma 11 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
15 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.
- Chorioretinal colobomaHPOHP:0000567
- 8 of 11 reported patients
- Iris colobomaHPOHP:0000612
- 16 of 28 reported patients
- Optic disc hypoplasiaHPOHP:0007766
- 7 of 14 reported patients
- Reduced visual acuityHPOHP:0007663
- 6 of 12 reported patients
- Retinal colobomaHPOHP:0000480
- 8 of 17 reported patients
- Optic disc colobomaHPOHP:0000588
- 4 of 11 reported patients
- Cortical cataractHPOHP:0100019
- 1 of 3 reported patients
- High myopiaHPOHP:0011003
- 5 of 15 reported patients
- NystagmusHPOHP:0000639
- 9 of 28 reported patients
- High hypermetropiaHPOHP:0008499
- 3 of 11 reported patients
- MicrophthalmiaHPOHP:0000568
- 2 of 11 reported patients
- Retinal detachmentHPOHP:0000541
- 1 of 8 reported patients
Show the remaining 3
- StrabismusHPOHP:0000486
- 2 of 25 reported patients
- Hypoplasia of the foveaHPOHP:0007750
- 1 of 14 reported patients
- PhotophobiaHPOHP:0000613
- 1 of 17 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.
- FZD5HGNC:4043
- Strong · G2P · Autosomal dominant · 2025
- Strong · PanelApp Australia · Autosomal dominant · 2025