isolated microphthalmia 7
Findings
No curated finding names isolated microphthalmia 7 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 GDF3 gene.
Definition from the Mondo Disease Ontology (MONDO:0013377), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
1 feature
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
- 2 of 3 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.
- GDF3HGNC:4218
- Limited · G2P · Autosomal dominant · 2017
Where it sits
Other names
5 names
Resolves to: isolated microphthalmia 7
- Also called
- GDF3 isolated microphthalmiaisolated microphthalmia caused by mutation in GDF3isolated microphthalmia type 7MCOP7microphthalmia, isolated type 7