Angelman Syndrome is a rare genetic disorder caused by UBE3A gene mutations, leading to developmental delays, speech issues, ...

deep-set eyes or abnormally wide mouth. People who have the syndrome usually have a normal life expectancy. Symptoms of Angelman syndrome can sometimes be confused with other disorders that also ...

Angelman syndrome is caused by a large deletion of the region of the maternal chromosome that contains UBE3A, or by a DNA sequence change (mutation) in the UBE3A gene inherited from the mother.

We each get two copies of every gene - one copy from each of our parents. But what happens when one of these genes has been "turned off", or imprinted, and the remaining gene is defective?