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.
MONDO:0002320
congenital nervous system disorder
is_a
MONDO:0015159
multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a
MONDO:0100547
cardiogenetic disease
is_a
MONDO:0100601
autosomal dominant syndromic intellectual disability
is_a
MONDO:1060233
Mediator complex-related neurodevelopmental disorder
is_a
ASRAS
exact
Asadollahi-Rauch syndrome
exact
MED13L haploinsufficiency syndrome
exact
MED13L syndrome
exact
MED13L-related intellectual disability
exact
MED13L-related syndrome
related
MRFACD
exact
MRFACD syndrome
related
cardiac anomalies - developmental delay - facial dysmorphism syndrome
exact
developmental delay-facial dysmorphism syndrome due to MED13L deficiency
exact
impaired intellectual development and distinctive facial features with or without cardiac defects
exact
intellectual disability and distinctive facial features with or without cardiac defects
exact
mental retardation and distinctive FACIAL features with or without CARDIAC defects
related
mental retardation and distinctive Facial features with or without Cardiac defects
exact