Синдром Прадера-Віллі, повязаний з SIM1

Визначення(English summary)

A rare Prader-Willi-like syndrome characterized by severe obesity due to SIM1 mutation, in addition to some clinical features of Prader-Willi- syndrome including intellectual disability, developmental delay, behaviour problems and facial dysmorphism. Unlike Prader-Willi syndrome, short stature, hypotonia and hypogonadism may not be observed.