Joubert Syndrome 24 (JBTS24)

Joubert Syndrome 24, also known as jbts24, is related to orofaciodigital syndrome v and meckel syndrome, type 2. An important gene associated with Joubert Syndrome 24 is TCTN2 (Tectonic Family Member 2), and among its related pathways/superpathways are Signal Transduction and Loss of Nlp from mitotic centrosomes. Affiliated tissues include brain and liver, and related phenotypes are talipes equinovarus and spasticity