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Angelman Syndrome - Coggle Diagram
Angelman Syndrome
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Symptoms
Developmental delays, including no crawling or babbling at 6 to 12 months
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Difficulty walking, moving or balancing well
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Happy, excitable personality
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May also display
Seizures, usually beginning between 2 and 3 years of age
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Small head size, with flatness in the back of the head
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Hair, skin and eyes that are light in color
Unusual behaviors, such as hand flapping and arms uplifted while walking
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Genomic Imprinting
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Imprinted genes are emerging as key regulators of metabolic processes in both infants and adults. They can influence maintenance of body temperature, food intake and adiposity by acting on multiple tissues and pathways.
Causes
Angelman Syndrome is caused by a mutation in the 15th chromosome called the ubiquitin protein ligase (UBE3A). .
Both genes are generally inherited from ach parent however there are rare cases when both genes can be inherited from the paternal
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