Radiological findings
| Radiology | Normal | Evidence of ischaemic lesion | Hydrocephalus | PFVL | IVH | Non-specific lesion | Total |
| Ultrasound | 3 | — | 3 | 1 | 2 | 1 | 10 |
| CT scan | 1 | 10 (2) | 2 | 1 | — | 3 (2) | 17 |
| MRI | — | 4 (1) | 1 | 1 | — | — | 6 |
| Not available/not done | 22 |
Number in brackets refers to number of patients with mutation.
PFVL: periventricular leucomalacia.
IVH: intraventricular haemorrhage.