Additional features observed in individuals with Joubert syndrome
| Characteristic | N | Minimum prevalence (%)* |
|---|---|---|
| Nervous system | ||
| Agenesis of the corpus callosum | 16† | 3.0 |
| Heterotopia | 15 | 2.8 |
| Polymicrogyria | 7 | 1.3 |
| Ventriculomegaly | 53 | 10.0 |
| Seizures | 55 | 10.3 |
| Mouth | ||
| Cleft palate | ||
| Hard palate | 13 | 2.4 |
| Soft palate | 7 | 1.3 |
| Tongue tumours | 17 | 3.2 |
| Oral frenulae | 9 | 1.7 |
| Eye | ||
| Strabismus | 167 | 31.4 |
| Ptosis | 104 | 19.5 |
| Other | ||
| Hearing loss | 16 | 3.0 |
| G-Tube | 43 | 8.1 |
| Scoliosis | 28 | 5.3 |
| Heart | 7‡ | 1.3 |
| Endocrine | ||
| Panhypopituitarism | 5 | 0.9 |
| Hypothyroidism | 4 | 0.8 |
| Micropenis | 10 | 1.9 |
| Other | 11§ | 2.1 |
| Laterality defects | 3¶ | 0.8 |
| Mental health issues | 47** | 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).