Comparison of clinical features in patients 1 and 2 and the family reported by Weedon et al22 with the axonal (type 2) form of Charcot-Marie-Tooth (CMT2) disease22
| Patient 1 (age 5 years) | Patient 2 (age 51 years) | CMT2 family22 | |
| Clinical features | |||
| ID/DD/LD | Severe ID | Severe ID | 4/13 DD or LD |
| Neuronal migration defect | Mild | Severe | Not documented |
| Delayed motor milestones | Yes | Yes, never learnt to walk | 9/13 |
| Epilepsy | No | Yes | Not reported |
| Gait abnormalities (waddling and/or broad based, frequent falls) | Yes | Cannot walk | 5/13 |
| Reduced reflexes | Yes | Not tested | 7/13 |
| Hypotonia and/or lordosis | Yes | No, hypertonia | 13/13 |
| Clubfeet | No | Yes | 7/13 |
DD, global developmental delay; ID, intellectual disability; LD, learning difficulties and/or language delay.