colobomatous macrophthalmia-microcornea syndrome
MONDO:0011239Mondo
Findings
No curated finding names colobomatous macrophthalmia-microcornea syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
8 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.
- Chorioretinal colobomaHPOHP:0000567
- 11 of 11 reported patients
- Flat corneaHPOHP:0007720
- 11 of 11 reported patients
- Increased axial length of the globeHPOHP:0007800
- 11 of 11 reported patients
- Iris colobomaHPOHP:0000612
- 11 of 11 reported patients
- MicrocorneaHPOHP:0000482
- 11 of 11 reported patients
- MyopiaHPOHP:0000545
- 11 of 11 reported patients
- Shallow anterior chamberHPOHP:0000594
- 11 of 11 reported patients
- Optic disc colobomaHPOHP:0000588
- 9 of 11 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.
- CRIM1HGNC:2359
- Supportive · Orphanet · Autosomal dominant · 2021
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2018
Where it sits
Other names
1 name
Resolves to: colobomatous macrophthalmia-microcornea syndrome
- Also called
- MACOM syndrome