Angelman syndrome (Q46847)

Angelman syndrome is a neurogenetic disorder characterised by severe intellectual deficit and distinct facial dysmorphic (microcephaly, macrostomia, maxillary hypoplasia, prognathia), behavioural (outbursts of laughter with hand flapping, a happy demeanour, hyperactivity without aggression, short attention span, excitability and sleeping problems with decreased need to sleep, increased sensitivity to heat, attraction to and fascination with water), and neurological features (a puppet-like gait, ataxia and epileptic seizures).