Joubert Syndrome 13 (JBTS13)

Joubert Syndrome 13, also known as jbts13, is related to meckel syndrome, type 5 and arima syndrome. An important gene associated with Joubert Syndrome 13 is TCTN1 (Tectonic Family Member 1), and among its related pathways/superpathways are Loss of Nlp from mitotic centrosomes and Organelle biogenesis and maintenance. Affiliated tissues include brain and cerebellum, and related phenotypes are cerebellar vermis hypoplasia and molar tooth sign on mri