The diagnostic rate for each syndrome was 60% for osteogenesis imperfecta with COL1A1 variants (3/5), 100% for spondyloepiphyseal dysplasia congenita with a COL2A1 variant (1/1), 100% for Stickler syndrome with COL11A1, COL11A2 variants (2/3, 1/3), 33% for CHARGE syndrome with a CHD7 variant (1/3), 100% for Jervell and Lange-Nielsen syndrome with a KCNQ1 variant (1/1), 100% for auditory neuropathy with a OPA1 mutation (1/1), and 89% for Pendred syndrome with SLC26A4 variants (32/36). Here, KCNQ1 is linked to spondyloepiphyseal dysplasia congenita.