Cardiac anomalies - developmental delay - facial dysmorphism syndrome
Cardiac anomalies - developmental delay - facial dysmorphism syndrome
Definition
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.
Also known as Asadollahi-Rauch syndrome, ASRAS, cardiac anomalies - developmental delay - facial dysmorphism syndrome, developmental delay-facial dysmorphism syndrome due to MED13L deficiency, impaired intellectual development and distinctive facial features with or without cardiac defects, intellectual disability and distinctive facial features with or without cardiac defects, MED13L haploinsufficiency syndrome, MED13L syndrome, MED13L-related intellectual disability, mental retardation and distinctive Facial features with or without Cardiac defects, MRFACD — per MONDO