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Angelman syndrome is a genetic disorder that affects the nervous system and causes severe physical and intellectual disability. It's relatively rare, occurring in around 1 in 16,000 people.Typical characteristics of Angelman syndrome include: 1  delayed development (usually noticeable from 6-12 months of age).n most cases of Angelman syndrome (about 70%), the child's maternal copy of the UBE3A gene is missing, which means there's no active copy of the UBE3A gene in the child's brain.
Rarely, Angelman syndrome can also be caused by a chromosomal rearrangement called a translocation, or by a mutation or other defect in the region of DNA that controls activation of the UBE3A gene. These genetic changes can abnormally turn off (inactivate) UBE3A or other genes on the maternal copy of chromosome 15.n some people who have Angelman syndrome, the loss of a gene called OCA2 is associated with light-colored hair and fair skin. The OCA2 gene is located on the segment of chromosome 15 that is often deleted in people with this disorder.