Main clinical features
|
mental retardation, wide mouth and intermittent overbreathing
severe psychomotor delay, epilepsy, and daily bouts of diurnal hyperventilation starting in infancy, mild postnatal growth retardation, postnatal microcephaly
happy disposition or unmotivated laughter episodes, muscular hypotonia, severe constipation or Hirschprung disease, single palmar creases, and supernumerary digital flexion creases
at MRI, anomalies such as hypoplastic corpus callosum and bulging caudate nuclei |