Joubert Syndrome 5 (JBTS5)

Joubert Syndrome 5, also known as jbts5, is related to joubert syndrome 1 and nephronophthisis 1, and has symptoms including ataxia An important gene associated with Joubert Syndrome 5 is CEP290 (Centrosomal Protein 290), and among its related pathways/superpathways are Loss of Nlp from mitotic centrosomes and Organelle biogenesis and maintenance. Affiliated tissues include kidney and cerebellum, and related phenotypes are ataxia and hypotonia