Синдром затримки розвитку - дисморфізму обличчя, зумовлений дефіцитом MED13L

Визначення(English summary)

A rare, genetic syndromic intellectual disability characterized by developmental delay, mild to severe intellectual disability, facial features (bulbous nasal tip, and macroglossia, macrostomia, or open mouth appearance) and a wide spectrum of other nonspecific variable clinical features.