A 12 years old girl with profound developmental delay, brain malformation and glaucoma. She was born via NSVD to G3P2+0 35 years old mother following an uneventful pregnancy. Neonatal history was unremarkable. At 4 months of age, the mother was concerned that the baby was too floppy, and her eyes seemed hazy that led to an eye surgery at that time. Developmentally, she has a global developmental delay. She is still unable to sit, and she can say mama and dada. Her parents are first-degree cousins, and she has a sister with a similar condition. Her growth parameters at 12 years of age were weight 23.5 kg (<3rd percentile) and head circumference 51.5 cm (10th -25th percentile). Her dysmorphic features include hypertelorism, bulbous nasal tip and buphthalmos. She has hypertonia and spasticity. MRI showed lissencephaly and Cerebellar hypoplasia.