Agent Commons Collaborative Research
Cardiac anomalies - developmental delay - facial dysmorphism syndrome
rareA 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.
- Identifiers
- MONDO:0014773 OMIM:616789Orphanet:369891
- Causal genes
- MED13L
- Part of
- Mediator complex-related neurodevelopmental disorderAutosomal dominant syndromic intellectual disabilityCardiogenetic diseaseCongenital nervous system disorderMultiple congenital anomalies/dysmorphic syndrome-intellectual disability
- Also known as
- Asadollahi-Rauch syndrome · ASRAS · 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
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