An 11 years old boy who was born at full-term via NSVD. He was found to be microcephalic at birth with a head circumference of 28 cm (<1st percentile). He developed seizures and has shown a global developmental delay affecting all domains and his estimated IQ was 50-56. Developmentally, he can only say a few words; he sat at 1 year and walked at 2 years. Parents are second-degree cousins with three other healthy children. On examination, his dysmorphic features include sloped forehead and prominent nose. His last growth parameters at 11 years of age were weight 25 kg, height 132 cm and head circumference 40 cm, all below the 3rd percentile. Brain MRI showed pachygyria, thin corpus callosum, lobar holoprosencephaly and Arnold Chiari malformation type I as well as creatine peak in MR spectroscopy. 