Stickler syndrome, type I, nonsyndromic ocular
MONDO:0012287Mondo
Findings
No curated finding names Stickler syndrome, type I, nonsyndromic ocular 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
5 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.
- Rhegmatogenous retinal detachmentHPOHP:0012230
- 26 of 38 reported patients
- Hearing impairmentHPOHP:0000365
- 4 of 28 reported patients
- Midface retrusionHPOHP:0011800
- 3 of 28 reported patients
- MyopiaHPOHP:0000545
- Optically empty vitreousHPOHP:0030663
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.
- COL2A1HGNC:2200
- Definitive · G2P · Autosomal dominant · 2015
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
Where it sits
- A kind of