microphthalmia, isolated, with coloboma 6
MONDO:0013376Mondo
Findings
No curated finding names microphthalmia, isolated, with coloboma 6 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance · Digenic inheritance
HPO, annotations 2026-09-02
Features
7 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.
- Bilateral microphthalmosHPOHP:0007633
- Very frequent (80% to 99% of cases)
- ColobomaHPOHP:0000589
- Very frequent (80% to 99% of cases)
- Abnormal temporal bone morphologyHPOHP:0009911
- 1 of 2 reported patients
- Hypoplasia of the foveaHPOHP:0007750
- NystagmusHPOHP:0000639
- Optic disc hypoplasiaHPOHP:0007766
- Visual impairmentHPOHP:0000505
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.
- GDF3HGNC:4218
- Limited · G2P · Autosomal dominant · 2025
Where it sits
Other names
3 names
Resolves to: microphthalmia, isolated, with coloboma 6
- Also called
- microphthalmia with coloboma 6microphthalmia with coloboma 6, digenicmicrophthalmia, isolated, with coloboma type 6