impaired intellectual development and distinctive facial features with or without cardiac defects

A syndromic intellectual disability characterized by mild-to-profound developmental delay, intellectual disability, speech delay, hypotonia, variable congenital heart defects, and distinctive dysmorphic facial features including frontal bossing, upslanting pal

A syndromic intellectual disability characterized by mild-to-profound developmental delay, intellectual disability, speech delay, hypotonia, variable congenital heart defects, and distinctive dysmorphic facial features including frontal bossing, upslanting palpebral fissures, depressed nasal bridge with bulbous tip, and macrostomia that has_material_basis_in heterozygous mutation in the MED13L gene on chromosome 12q24.

Signs and symptoms

• Narrow forehead
• Poor speech
• Upslanted palpebral fissure
• Moderate intellectual disability
• Strabismus
• Ataxia
• Generalized hypotonia
• Motor delay
• Recurrent infections
• Prominent forehead

Also known as: Asadollahi-Rauch syndrome; MED13L syndrome; MED13L-related intellectual disability; MRFACD