A 13 years old boy who was born to first-degree cousins with a family history of a similar condition. He has a severe intellectual disability, autism, motor delay, absent speech and dysmorphic facial features. On examination, his current growth parameters were weight 60.8 kg (90th -95th percentile), height 159 cm (on 75th percentile) and head circumference 43 cm (<1st percentile). Other examinations were within normal limits. Brain MRI showed dysplastic corpus callosum.