microphthalmia, isolated, with coloboma 7
Findings
No curated finding names microphthalmia, isolated, with coloboma 7 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 ABCB6 gene.
Definition from the Mondo Disease Ontology (MONDO:0013783), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
2 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.
- Inferior chorioretinal colobomaHPOHP:0031613
- 8 of 8 reported patients
- Iris colobomaHPOHP:0000612
- 8 of 8 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.
- ABCB6HGNC:47
- Limited · ClinGen · Autosomal dominant · 2024
- Limited · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2020
- Limited · G2P · Autosomal dominant · 2017
- Limited · PanelApp Australia · Autosomal dominant · 2025
Where it sits
Other names
3 names
Resolves to: microphthalmia, isolated, with coloboma 7
- Also called
- ABCB6 microphthalmia, isolated, with colobomamicrophthalmia, isolated, with coloboma caused by mutation in ABCB6microphthalmia, isolated, with coloboma type 7