Clinical feature: 

Definition: BOR2 syndrome is an autosomal dominant disorder that variably involves developmental defects of ear, brachial arches, and kidney. The disease is caused by mutations in the gene SIX5.

Clinical picture: The clinical presentation is similarily variable in all forms of branchiootorenal dysplasia, and it is describe in the superordinate concept.  » » » 

Literature: 

Hoskins BE et al. (2007) Transcription factor SIX5 is mutated in patients with branchio-oto-renal syndrome.
Boucher CA et al. (1995) A novel homeodomain-encoding gene is associated with a large CpG island interrupted by the myotonic dystrophy unstable (CTG)n repeat.