Joubert Syndrome 2 (JBTS2)

Joubert Syndrome 2, also known as cerebellooculorenal syndrome 2, is related to arima syndrome and oculomotor apraxia, and has symptoms including ataxia An important gene associated with Joubert Syndrome 2 is TMEM216 (Transmembrane Protein 216), and among its related pathways/superpathways are Loss of Nlp from mitotic centrosomes and Organelle biogenesis and maintenance. Affiliated tissues include brain and eye, and related phenotypes are intellectual disability and hypotonia