isolated microphthalmia 4
Findings
No curated finding names isolated microphthalmia 4 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 GDF6 gene.
Definition from the Mondo Disease Ontology (MONDO:0013130), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
4 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.
- MicrophthalmiaHPOHP:0000568
- Very frequent (80% to 99% of cases)
- ColobomaHPOHP:0000589
- 1 of 3 reported patients
- Postaxial polydactylyHPOHP:0100259
- 1 of 3 reported patients
- Absent testisHPOHP:0010469
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.
- GDF6HGNC:4221
- Limited · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2017
Where it sits
Other names
5 names
Resolves to: isolated microphthalmia 4
- Also called
- GDF6 isolated microphthalmiaisolated microphthalmia caused by mutation in GDF6isolated microphthalmia type 4MCOP4microphthalmia, isolated type 4