Definition And Genetic Basis

Angelman Syndrome: A Comprehensive Overview

Definition and Genetic Basis

Angelman syndrome is a genetic condition caused by a change in a gene called UBE3A. This gene plays a crucial role in the function of the nervous system.

Characteristics and Symptoms

Angelman syndrome exhibits a range of characteristics, including:

• Small head size
• Distinct facial features: puppenhafte Gesichtszüge (puppet-like appearance)
• Lifelong intellectual disability
• Impaired speech and language development
• Movement and balance difficulties

The severity and combination of symptoms can vary significantly from person to person and change with age.