Conditions / Syndrome
Stickler syndrome 1
info · Syndrome
A Stickler syndrome that has_material_basis_in heterozygous mutation in the COL2A1 gene on chromosome 12q13.
Signs and symptoms
- Joint stiffness
- Arthropathy
- Arthralgia
- Vitreoretinopathy
- Myopia
- Osteoarthritis
- Sensorineural hearing impairment
- Midface retrusion
- Retinal hole
- Arthritis