Joubert Syndrome 20 (JBTS20)

Joubert Syndrome 20, also known as jbts20, is related to meckel syndrome, type 11 and retinitis pigmentosa 69. An important gene associated with Joubert Syndrome 20 is TMEM231 (Transmembrane Protein 231), and among its related pathways/superpathways are Loss of Nlp from mitotic centrosomes and Organelle biogenesis and maintenance. Affiliated tissues include cerebellum and brain, and related phenotypes are respiratory insufficiency and global developmental delay