The main clinical features of the SET-related Intellectual developmental disorder include intellectual and developmental delay, speech delay and motor delay. Minor dysmorphic features may include facial asymmetry, high palate, dental crowding, hypertelorism, plagiocephaly, small head circumference, large ears, broad nasal bridge, thick lips, and wide mouth. A range of variable, non-specific features was observed, such as hypotonia, seizures and strabismus for which it remains unclear whether they are caused by the SET mutation.
SET