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Up to: Spondyloepiphyseal dysplasia · Spondyloepimetaphyseal dysplasia

COL2A1-related spondyloepiphyseal dysplasia

Any spondyloepiphyseal dysplasia in which the cause of the disease is a variant in the COL2A1 gene. This includes spondyloepiphyseal dysplasia congenita, spondyloepiphyseal dysplasia with metatarsal shortening, and spondyloepiphyseal dysplasia with metaphyseal changes.

0 trials tagged with this condition →

Stickler syndrome type 1 3 trials Sub-types →
Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis 0 trials
Spondyloepiphyseal dysplasia congenita 0 trials
Spondyloepiphyseal dysplasia with metatarsal shortening 0 trials
Spondyloepiphyseal dysplasia, Stanescu type 0 trials
Spondyloperipheral dysplasia 0 trials