Conditions / Syndrome
Stickler syndrome 2
info · Syndrome
A Stickler syndrome that has_material_basis_in heterozygous mutation in the COL11A1 gene on chromosome 1p21.
Signs and symptoms
- Metaphyseal widening
- Hypotonia
- Knee pain
- Angle closure glaucoma
- Proportionate short stature
- Recurrent fractures
- Degenerative vitreoretinopathy
- Remnants of the hyaloid vascular system
- Ankle pain
- High myopia