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What is it like to have angelman syndrome? Is it a new mutation in each case?

2 doctors weighed in
Dr. Johanna Fricke
Pediatrics - Developmental & Behavioral
1 doctor agrees

In brief: Almost always NM

The challenges of angelman syndrome are seizures, microcephaly ( small head), characteristic facial features, intellectual disability with severe language impairment, unsteady gait, happy demeanor with frequent laughter, hyperactivity & more.
In a few cases there's an alteration on mom's chromosome 15. Usually it's from a genetic accident. See www.Angelman.Org.

In brief: Almost always NM

The challenges of angelman syndrome are seizures, microcephaly ( small head), characteristic facial features, intellectual disability with severe language impairment, unsteady gait, happy demeanor with frequent laughter, hyperactivity & more.
In a few cases there's an alteration on mom's chromosome 15. Usually it's from a genetic accident. See www.Angelman.Org.
Dr. Johanna Fricke
Dr. Johanna Fricke
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