Clinical feature | Number of patients | This study patient | |
---|---|---|---|
Clinical findings | ID or DD | 69/69 | +(severe ID and DD) |
Speech delay | 68/69 | +(no speech) | |
Hypotonia | 46/66 | +(axial hypotonia) | |
Coordination problems | 20/60 | +(stereotypic movements, wide-based gait) | |
Congenital heart defects | 12/64 | – | |
Autistic features | 16/69 | – | |
Abnormal brain MRI | 26/58 | +(lateral ventricles asymmetry, wider posterior part of the left ventricle) | |
Seizures | 10/63 | – | |
Behavioural problems | 16/51 | +(self-destructive behaviour – biting hands) | |
Strabismus | 3/24 | +(convergent strabismus – esotropia) | |
Dysmorphic features | Depressed/flat nasal bridge | 19/33 | +(flat nasal bridge) |
Broad/prominent forehead | 16/21 | +(prominent frontal eminence) | |
Bulbous nasal tip | 50/67 | + | |
Upslanting palpebral fissures | 26/65 | +(slight epicanthic folds) | |
Low seat ears | 17/33 | – | |
Bitemporal narrowing | 8/33 | – | |
Horizontal eyebrows | 7/33 | + | |
Macrosomia | 14/33 | + | |
Macroglossia | 9/33 | – |