Joubert Syndrome with Jeune Asphyxiating Thoracic Dystrophy

Joubert Syndrome with Jeune Asphyxiating Thoracic Dystrophy, also known as joubert syndrome with jatd, is related to polydactyly and retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene. An important gene associated with Joubert Syndrome with Jeune Asphyxiating Thoracic Dystrophy is IFT140 (Intraflagellar Transport 140), and among its related pathways/superpathways are Ciliopathies and Joubert syndrome. Affiliated tissues include eye and bone, and related phenotypes are failure to thrive and frontal bossing