Rare Disease Dashboard
Rare Diseases Portal

Angelman Syndrome

Cecilie seems to have normal activities for a 4 year-old: this smiling blond, blue-eyed girl watches TV (she loves Rowan Atkinson in his role as the clumsy Mr. Bean), likes to feed the ducks at the lake close to her home near Copenhagen and says a few words (of which the most important are yes and no). But Cecilie is 12 years old and suffers fromĀ Angelman Syndrome, a complex genetic disorder that primarily affects the nervous system. Characteristic features of this condition include developmental delay, intellectual disability, speech impairment, and problems with movement and balance.

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