Figure 9

Patient 8 at the age of 3.5 years. The patient is a sporadic case in the family. At the age of 3.5 years she presented with facial dysmorphism, micropthalmus, demyelinating neuropathy and developmental delay. Congenital cataract was surgically corrected after birth. She was able to sit at 12 months of age, but is not able to walk.