label: cardiac anomalies - developmental delay - facial dysmorphism syndrome
label_lc: cardiac anomalies - developmental delay - facial dysmorphism syndrome
description: 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, such as cardiac defects.