/cardiac anomalies - developmental delay - facial dysmorphism syndrome

cardiac anomalies - developmental delay - facial dysmorphism syndrome

Rare Disease

MONDO:0014773

Also Known As

ASRASAsadollahi-Rauch syndromeMED13L haploinsufficiency syndromeMED13L syndromeMED13L-related intellectual disabilityMRFACDcardiac anomalies - developmental delay - facial dysmorphism syndromedevelopmental delay-facial dysmorphism syndrome due to MED13L deficiencyimpaired intellectual development and distinctive facial features with or without cardiac defectsintellectual disability and distinctive facial features with or without cardiac defectsmental retardation and distinctive Facial features with or without Cardiac defectsMED13L-related syndromeMRFACD syndromemental retardation and distinctive FACIAL features with or without CARDIAC defects

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.