microphthalmia, isolated, with coloboma 10
Findings
No curated finding names microphthalmia, isolated, with coloboma 10 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 RBP4 gene.
Definition from the Mondo Disease Ontology (MONDO:0014635), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
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
- 8 of 15 reported patients
- MicrophthalmiaHPOHP:0000568
- 8 of 15 reported patients
- AnophthalmiaHPOHP:0000528
- 4 of 15 reported patients
- Chorioretinal colobomaHPOHP:0000567
- 2 of 15 reported patients
- MicrocoriaHPOHP:0025492
- 1 of 15 reported patients
- Optic pitHPOHP:0034567
- 1 of 15 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.
- RBP4HGNC:9922
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2018
Where it sits
Other names
3 names
Resolves to: microphthalmia, isolated, with coloboma 10
- Also called
- microphthalmia, isolated, with coloboma caused by mutation in RBP4microphthalmia, isolated, with coloboma type 10RBP4 microphthalmia, isolated, with coloboma