Angelman syndrome

external

• Synonyms

  • UBE3A mutation
  • 15q11 mutation

• Causes

  • Ubiquitin mutation

• Effects

  • Brachycephaly
  • Hypopigmented skin
  • Drooling
  • Diastema
  • Hyperreflexia
  • Sleep disorder
  • Congenital strabismus
  • Laughter

• Parents

  • Congenital neurological disease
  • Genetic imprinting

• Description

  • "Genetic imprinting at 15q11 Maternal"