Joubert's syndrome is a rare autosomal-recessive condition characterized by midbrain-hindbrain malformation and other variable clinical symptoms. Vermis hypoplasia/agenesis and abnormalities at the pontomesencephalic junction are the hallmarks of the diagnosis, yet the relationship between radiologic and clinical findings has been targeted only in a few studies. Irregular breathing during the neonatal period, developmental delay, intellectual disability, hypotonia, ocular motor abnormalities, and occasionally, retinal dystrophy and cystic kidneys are the main features of this syndrome.
Joubert's syndrome 1 is associated with defects in INPP5E gene.