Branchio-oto-renal syndrome (BOR)[4][5] is an autosomal dominant genetic disorder involving the kidneys, ears, and neck.

Malformation or absence of the middle ear is also possible, individuals can have mild to profound hearing loss.

[9] The genetics of branchio-oto-renal syndrome indicate it is inherited in an autosomal dominant manner with variable clinical manifestations affecting branchial, renal, and auditory development.

The varying clinical expression of the disease between different families suggests that multiple loci may be involved.

[12][13] SINX1 is involved in many facets of embryonic development and is important in the normal formation of many organs and tissues, including the ears, and kidneys before birth.