Clinical feature: 

Definition: Nephronophthisis type 6 is anautosomal recessive disorder caused by mutations in the CEP290 gene.

Literature: 

Sayer JA et al. (2006) The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4.
Valente EM et al. (2006) Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome.