keratoconus 9
MONDO:0054771Mondo
Findings
No curated finding names keratoconus 9 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Juvenile onset
HPO, annotations 2026-09-02
Features
3 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.
- Decreased corneal thicknessHPOHP:0100689
- 2 of 2 reported patients
- KeratoconusHPOHP:0000563
- 4 of 4 reported patients
- Reduced visual acuityHPOHP:0007663
- 2 of 2 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.
- TUBA3DHGNC:24071
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2018
Where it sits
- A kind of