Joubert Syndrome 17 (JBTS17)

Joubert Syndrome 17, also known as jbts17, is related to orofaciodigital syndrome vi and orofaciodigital syndrome, and has symptoms including ataxia An important gene associated with Joubert Syndrome 17 is CPLANE1 (Ciliogenesis And Planar Polarity Effector Complex Subunit 1), and among its related pathways/superpathways are Organelle biogenesis and maintenance and Signaling by Hedgehog. Affiliated tissues include eye and cerebellum, and related phenotypes are global developmental delay and molar tooth sign on mri