Cardiac anomalies - developmental delay - facial dysmorphism syndrome

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: ASRAS, Asadollahi-Rauch syndrome, MED13L haploinsufficiency syndrome, MED13L syndrome, MED13L-related intellectual disability, MRFACD, cardiac anomalies - developmental delay - facial dysmorphism syndrome, developmental delay-facial dysmorphism syndrome due to MED13L deficiency

0 clinical trials for this condition and its sub-types.