Table 2

Additional features observed in individuals with Joubert syndrome

CharacteristicNMinimum prevalence (%)*
Nervous system
 Agenesis of the corpus callosum16†3.0
 Cleft palate
  Hard palate132.4
  Soft palate71.3
 Tongue tumours173.2
 Oral frenulae91.7
 Hearing loss163.0
 Laterality defects0.8
 Mental health issues47**8.8
  • *Assumes that the feature is absent when the feature is not documented to be present. Denominator=532 individuals.

  • †Includes complete (13) and partial (3) agenesis of the corpus callosum.

  • ‡Includes atrial septal defect (3), coarctation of aorta (2), bicuspid aortic valve and aortic stenosis (1) and narrowing of aortic arch (1).

  • §Includes Hashimoto's disease (1), type I diabetes mellitus (2), unknown type diabetes (1), ovarian failure (1), polycystic ovarian syndrome (1), growth hormone deficiency (3), elevated parathyroid hormone (1) and absence of pituitary bright spot, premature puberty and borderline diabetes (1).

  • ¶Includes dextrocardia (1) and situs inversus (2).

  • **Includes anxiety (6), ADHD/ADD (8), autism spectrum disorder (16), depression/bipolar disorder (5), aggression (2), obsessive compulsive disorder (2), borderline personality disorder (1), anorexia nervosa (1) and non-specified behavioural problems (6).