Joubert syndrome is a rare autosomal recessive inherited condition with a variable phenotype.
Phenotype
A typical finding in all patients with Joubert syndrome is partial or complete absence of the vermis cerebelli[^1]. The following phenotypes may also occur[^1]:
Episodes of tachypnea and apnea during the neonatal period
"Jerky Eye Movements"
Hypotonia
Cognitive impairment
Impaired balance