In rare cases they may be associated with branchio-oto-renal syndrome.

Defects in this gene are a cause of Townes-Brocks syndrome (TBS) as well as branchio-oto-renal syndrome (BOR).

BRA and other causes of oligohydramnios sequence have been linked to a number of other problems, to include Down syndrome, Kallmann syndrome, branchio-oto-renal syndrome and others.

Branchio-oto-renal syndrome (BOR), also known as branciootorenal syndrome or BOR syndrome, is an autosomal dominant genetic disorder involving the kidneys, ears, and neck.

Mutations in the EYA1 gene, which is a GDNF transcription factor, lead to the renal abnormalities of BOR syndrome (branchio-oto-renal syndrome).