Joubert Syndrome 18 (JBTS18)

Joubert Syndrome 18, also known as jbts18, is related to orofaciodigital syndrome iv and total anomalous pulmonary venous return 1. An important gene associated with Joubert Syndrome 18 is TCTN3 (Tectonic Family Member 3), and among its related pathways/superpathways is Mesodermal commitment pathway. Affiliated tissues include kidney and eye, and related phenotypes are postaxial polydactyly and occipital encephalocele