Joubert Syndrome with Ocular Defect (JS-O)

Joubert Syndrome with Ocular Defect, also known as joubert syndrome with retinopathy, is related to joubert syndrome 2 and joubert syndrome 5, and has symptoms including ataxia An important gene associated with Joubert Syndrome with Ocular Defect 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 eye and brain, and related phenotypes are intellectual disability and ataxia