Joubert Syndrome 3 (JBTS3)

Joubert Syndrome 3, also known as jbts3, is related to joubert syndrome with ocular defect and encephaloceles, and has symptoms including ataxia An important gene associated with Joubert Syndrome 3 is AHI1 (Abelson Helper Integration Site 1), 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 intellectual disability and ataxia