Joubert Syndrome 23 (JBTS23)

Joubert Syndrome 23, also known as jbts23, is related to short-rib thoracic dysplasia 14 with polydactyly and joubert syndrome 1. An important gene associated with Joubert Syndrome 23 is KIAA0586 (KIAA0586), and among its related pathways/superpathways are Organelle biogenesis and maintenance and Bardet-Biedl syndrome. Affiliated tissues include eye and brain, and related phenotypes are abnormality of eye movement and global developmental delay