Definition of Angelman syndrome in English:

Angelman syndrome


(also Angelman's syndrome)
  • A congenital condition characterized especially by intellectual disability and uncoordinated movement, typically resulting from loss of function of a gene present on the copy of chromosome 15 inherited from the mother.

    ‘In addition, a defective E6 - AP is implicated in Angelman's syndrome.’
    • ‘Prader-Willi syndrome and Angelman syndrome are distinct disorders that are caused by the loss of the function of genes located on the long arm of chromosome 15.’
    • ‘Pat and his wife, Eva, have a 22-year-old daughter, Lisa, who has a profound disability called Angelman syndrome.’
    • ‘Disruption of UBE3A causes Angelman syndrome, a complex neurological disorder characterized by mental retardation and seizures.’
    • ‘The charity, based in the Edinburgh Hospital for Sick Children, provided support for Rankin and his wife Miranda when their youngest son, Kit, was diagnosed with Angelman syndrome.’


Angelman syndrome

/ˈaNGɡəlmən ˌsindrōm/ /ˈæŋɡəlmən ˌsɪndroʊm/


1970s named after Harold Angelman(1915–96), the British doctor who described the condition.