Joubert Syndrome 10 (JBTS10)

Joubert Syndrome 10, also known as jbts10, is related to coloboma of macula and joubert syndrome 1. An important gene associated with Joubert Syndrome 10 is OFD1 (OFD1 Centriole And Centriolar Satellite Protein), and among its related pathways/superpathways are Organelle biogenesis and maintenance and Bardet-Biedl syndrome. Affiliated tissues include cerebellum and brain, and related phenotypes are macrocephaly and intellectual disability