Patient 7. Panel A- at the age of 1.5 years. Panel B- at the age of 3.5 years. This girl is a sporadic case in the family; no other family members are affected. Panel A: The girl presented with developmental delay, she was able to sit at 12 months and to stand at 16 months of age, but she was not able to walk. Panel B: The girl presented with facial dysmorphism, demyelinating neuropathy and developmental delay.