Stickler syndrome type III, otospondylomegaepiphyseal dysplasia (OSMED syndrome), Weissen–Bacher–Zweymuller syndrome, autosomal dominant non-syndromic sensorineural type 13 deafness (DFNA13), autosomal recessive non-syndromic senso-rineural type 53 deafness (DFNB53) are associated with loss-of-function mutations in the COL11A2 gene [21,65] (Table 1). Here, COL11A2 is linked to otospondylomegaepiphyseal dysplasia, autosomal dominant.