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(For our list of subjects with an imprinting defect, click here.). UBE3A Mutation. Malfunction of the UBE3A gene on the maternal chromosome #15 seems to be the cause of Angelman syndrome. In the case of a UBE3A mutation, there is a mistake in the genetic code of the UBE3A gene.
1 Angelman syndrome is a genetic disorder with characteristic features that include severe speech impairment, developmental delay, intellectual disability, and ataxia (problems with movement and balance). 2  Angelman syndrome is named after the physician Harry Angelman who first delineated the syndrome in 1965.ngelman syndrome facts*. *Angelman syndrome facts medically edited by: Melissa Conrad Stoeppler. 1  StÃ¶ppler angelman syndrome is a genetic disorder with characteristic features that include severe speech, impairment developmental, delay intellectual, disability and (ataxia problems with movement and).  balance