Burnside-butler syndrome: a mild phenotypic variant of Angelman syndrome

Abstract

We report the case of a 15-month-old female diagnosed with a microdeletion of 15q11.2-15q13.1, identified through whole-exome sequencing. The child presented with a history of speech delay, cognitive deficits, attention deficit hyperactivity disorder, hypotonia, and epilepsy. The 15q11.2 BP1-BP2 microdeletion, also known as Burnside-Butler syndrome, is increasingly recognized as one of the most common pathogenic copy number variations associated with neurodevelopmental disorders. It is linked to alterations in brain morphology, behavior, and cognition. This study contributes to United Nations SDG Goal 3: Good Health and Well-being, by enhancing understanding of rare genetic disorders affecting child development.