Cardiac anomalies - developmental delay - facial dysmorphism syndrome

MONDO:0014773

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, 0 tagged with Cardiac anomalies - developmental delay - facial dysmorphism syndrome itself.

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↑ Cardiogenetic disease (614) ↑ Congenital nervous system disorder (284) ↑ Multiple congenital anomalies/dysmorphic syndrome-intellectual disability (59) ↑ Autosomal dominant syndromic intellectual disability (15)

Including sub-types (0) Tagged with Cardiac anomalies - developmental delay - facial dysmorphism syndrome (0)

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