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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.
The most common cause of Angelman syndrome is a deletion of the maternal chromosome region 15q11-q13, which includes the UBE3A gene. Importantly, mutations and deletions of the UBE3A gene are sufficient to cause Angelman syndrome, making UBE3A the single gene responsible for the core symptoms of the disorder. Two major deletion classes known as class I and class II deletions in the 15q11-q13 region both cause Angelman syndrome.