cataract 48
MONDO:0032735Mondo
Findings
No curated finding names cataract 48 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
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.
- CataractHPOHP:0000518
- 12 of 12 reported patients · Congenital onset
- Reduced visual acuityHPOHP:0007663
- 11 of 12 reported patients
- AmblyopiaHPOHP:0000646
- 4 of 12 reported patients
- ExotropiaHPOHP:0000577
- 4 of 12 reported patients
- MiosisHPOHP:0000616
- 2 of 12 reported patients
- Pendular nystagmusHPOHP:0012043
- 2 of 12 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.
- DNMBPHGNC:30373
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of