Joubert Syndrome 33 (JBTS33)

Joubert Syndrome 33, also known as jbts33, is related to cranioectodermal dysplasia and polycystic kidney disease 4 with or without polycystic liver disease. An important gene associated with Joubert Syndrome 33 is PIBF1 (Progesterone Immunomodulatory Binding Factor 1), and among its related pathways/superpathways are Ciliopathies and Joubert syndrome. Affiliated tissues include liver and kidney, and related phenotypes are global developmental delay and ataxia