Joubert Syndrome 25 (JBTS25)

Joubert Syndrome 25, also known as jbts25, is related to intellectual developmental disorder, autosomal recessive 77 and cerebellar malformation. An important gene associated with Joubert Syndrome 25 is CEP104 (Centrosomal Protein 104), and among its related pathways/superpathways are Organelle biogenesis and maintenance and Ciliopathies. Affiliated tissues include liver and brain, and related phenotypes are global developmental delay and molar tooth sign on mri