Table 3.
Clinical feature | Current cohort (n = 28) | Witteveen et al. [1] (n = 9) | Narumi-Kishimoto [3] (n = 1) | Total (n = 38) |
---|---|---|---|---|
Intellectual disability | 16 | 7 | 1 | 24 |
Mild | 8 | 5 | – | 13 |
Moderate | 7 | 2 | 1 | 10 |
Severe | 1 | – | – | 1 |
Speech delay | 11 | 2 | 1 | 13 |
Hypotonia | 12 | 2 | – | 14 |
Feeding difficulties | 15 | N/R | – | 15 |
Short stature | 6 | 2 | – | 8 |
Epilepsy | 4 | 1 | – | 5 |
Behavioural problems | 12 | 4 | 1 | 17 |
N/R not reported, overlap between mild-moderate ID reported as mild.