Joubert Syndrome 2

About the Disease
Joubert Syndrome 2, also known as cerebellooculorenal syndrome 2, is related to meckel syndrome, type 2 and arima syndrome, 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, eye and cerebellum, and related phenotypes are intellectual disability and frontal bossing

Common Targets
TMEM216

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