- Inability to walk, move or balance well (ataxia).
- Trembling movement of arms and legs.
- Frequent smiling and laughter.
- Happy, excitable personality.
- People who have Angelman syndrome may also have other signs and symptoms, including:
- Small head size, with flatness in the back of the head (microbrachycephaly).
- Crossing of the eyes (strabismus).
- Tongue thrusting.
- Walking with arms up in the air.
- Light pigmentation in hair, skin and eyes (hypopigmentation).
- Unusual movements including fine tremors, jerky limb movements, hand flapping and a wide-based, stiff-legged gait.
- Characteristic facial appearance (but not in all cases).
- A history of epilepsy and an abnormal EEG tracing.
- A happy disposition with frequent laughter.
- A deletion or inactivity on chromosome 15 by array comparative genomic hybridization (aCGH) or by BACs-on-Beads technology.
- Diagnostic criteria for the disorder were initially established in 1995 in collaboration with the Angelman syndrome Foundation (USA);these criteria have undergone revision in 2005.
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