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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.
In a small percentage of cases, a person with Angelman syndrome inherits two copies of chromosome 15 from his or her father (paternal copies) instead of one copy from each parent. This phenomenon is called paternal uniparental disomy.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.any of the characteristic features of Angelman syndrome result from the loss of function of a gene called. UBE3A. People normally inherit one copy of the UBE3A gene from each parent. Both copies of this gene are turned on (active) in many of the body's tissues.