| Main clinical features
|
severe neurodevelopmental disorder characterized by delayed psychomotor development, early-onset refractory seizures that are often initially febrile but later afebrile, and severe intellectual disability
dysmorphic features including prominent eyebrows, long palpebral fissures, overhanging columella, and thin upper lip; developmental delay and intellectual disability (ID), ranging from moderate to severe
seizures are common from early childhood, and initially occur in the context of febrile episodes |