cataract - microcornea syndrome
MONDO:0015300Mondo
Findings
No curated finding names cataract - microcornea syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Cataract-microcornea syndrome is characterized by the association of congenital cataract and microcornea without any other systemic anomaly or dysmorphism.
Definition from the Mondo Disease Ontology (MONDO:0015300), read 2026-09-29. CC BY 4.0.
Features
7 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
- Very frequent (80% to 99% of cases)
- MicrocorneaHPOHP:0000482
- Very frequent (80% to 99% of cases)
- MyopiaHPOHP:0000545
- Frequent (30% to 79% of cases)
- Corneal dystrophyHPOHP:0001131
- Occasional (5% to 29% of cases)
- Corneal opacityHPOHP:0007957
- Occasional (5% to 29% of cases)
- Iris colobomaHPOHP:0000612
- Occasional (5% to 29% of cases)
- NystagmusHPOHP:0000639
- Occasional (5% to 29% of cases)
Genes
8 genes
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.
- CRYAAHGNC:2388
- Supportive · Orphanet · Autosomal dominant · 2021
- CRYBA4HGNC:2396
- Supportive · Orphanet · Autosomal dominant · 2021
- CRYBB1HGNC:2397
- Supportive · Orphanet · Autosomal dominant · 2021
- CRYBB2HGNC:2398
- Supportive · Orphanet · Autosomal dominant · 2021
- CRYGCHGNC:2410
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
- A kind of