A 9 months old deceased boy who was born at full-term via C-section due to meconium-stained liquor and fetal distress. He was admitted to NICU immediately after birth where he developed convulsions and jerky movements. His seizures have been difficult to control, and he is on multiple medications. The parents are first-degree cousins once removed, and they had a daughter with a similar course that passed away at the age of 16 months. His examination was significant for dysmorphic features and sluggish pupils. Brain MRI showed diffuse brain atrophy and delayed myelination of white matter. 