Main clinical features
|
syndromic neurodevelopmental disorder characterized by delayed psychomotor development with variable intellectual disability, early-onset seizures, and characteristic dysmorphic facial features comprising coarse facies with a prominent maxilla and upper lip revealing the upper gingiva, widely-spaced teeth, and a broad nasal tip
developmental delay ranges from mild to severe, and all individuals have delayed speech, and wide-based, spastic, hemiparetic, and/or stiff-legged gait |