The condition typically manifests around puberty with a short neck, scoliosis or thoracic kyphosis, lumbar hyperlordosis, and early-onset progressive osteoarthritis of the
[orpha.net]
With Hypoplastic Toes Spondyloepiphyseal Dysplasia With Precocious Osteoarthritis 609162 Genetic Test Registry Deafness, Autosomal Dominant 13 DFNA13 601868 Genetic Test
[ukgtn.nhs.uk]
POH 166350 Genetic Test Registry Osteoarthritis Susceptibility 5 OS5 612400 Genetic Test Registry Osteoarthritis With Mild Chondrodysplasia OSCDP 604864 Genetic Test Registry
[ukgtn.nhs.uk]