Joubert syndrome 34
Joubert syndrome type 34 is an autosomal recessive disorder caused by mutations in the TMEM237 gene.
Dowdle WE et. al. (2011) Disruption of a ciliary B9 protein complex causes Meckel syndrome.[^]
Bachmann-Gagescu R et. al. (2015) Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.[^]