COL11A2

Synonym(s): HKE5, DFNA13, DFNB53

Locus: 6p21.3

Protein: Collagen alpha-2(XI) chain

Disorder(s):

• Otospondylomegaepiphyseal Dysplasia
• Weissenbacher-Zweymuller Syndrome
• DFNA13 Nonsyndromic Hearing Loss and Deafness
• Fibrochondrogenesis 2
• COL11A2-Related Stickler Syndrome