Joubert Syndrome 21 (JBTS21)

Joubert Syndrome 21, also known as jbts21, is related to cerebellar malformation and joubert syndrome 10, and has symptoms including apnea, cerebellar ataxia and dyspnea. An important gene associated with Joubert Syndrome 21 is CSPP1 (Centrosome And Spindle Pole Associated Protein 1), and among its related pathways/superpathways are Loss of Nlp from mitotic centrosomes and Organelle biogenesis and maintenance. Affiliated tissues include liver and kidney, and related phenotypes are retinopathy and anophthalmia