Синдром Прадера-Віллі, повязаний з MAGEL2

Визначення(English summary)

A rare Prader-Willi-like syndrome characterized by arthrogryposis, including contractures of the proximal and distal interphalangeal joints, and autism spectrum disorder due to MAGEL2 mutation. Overlapping phenotypes with Prader-Willi syndrome include hypotonia, feeding difficulties, weigth gain, developmental delay, intellectual disability and hypogonadism. Minority of patients manifest hyperphagia and morbid obesity in contrast to patients with Prader-Willi syndrome.