Joubert Syndrome with Renal Defect (JS-R)

Joubert Syndrome with Renal Defect, also known as js-r, is related to joubert syndrome 4 and polydactyly, and has symptoms including ataxia An important gene associated with Joubert Syndrome with Renal Defect is NPHP1 (Nephrocystin 1), and among its related pathways/superpathways are Ciliopathies and Joubert syndrome. Affiliated tissues include kidney and eye, and related phenotypes are intellectual disability and ataxia