coloboma, ocular, autosomal recessive
MONDO:0009002Mondo
Findings
No curated finding names coloboma, ocular, autosomal recessive yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
10 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.
- NystagmusHPOHP:0000639
- 3 of 3 reported patients
- Optic disc colobomaHPOHP:0000588
- 3 of 3 reported patients
- Reduced visual acuityHPOHP:0007663
- 3 of 3 reported patients
- Retinal colobomaHPOHP:0000480
- 3 of 3 reported patients · Congenital onset
- CataractHPOHP:0000518
- 2 of 3 reported patients
- EsotropiaHPOHP:0000565
- 2 of 3 reported patients
- Iris colobomaHPOHP:0000612
- 2 of 3 reported patients · Congenital onset
- ExotropiaHPOHP:0000577
- 1 of 3 reported patients
- HypertropiaHPOHP:0025586
- 1 of 3 reported patients
- Lens subluxationHPOHP:0001132
- 1 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.
- SALL2HGNC:10526
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2020
Where it sits
- A kind of