autosomal dominant intellectual developmental disorder 61

An autosomal dominant intellectual developmental disorder characterized by global developmental delay apparent in infancy with mildly impaired intellectual development, expressive speech delay, and behavioral abnormalities, including autism spectrum disorder a

An autosomal dominant intellectual developmental disorder characterized by global developmental delay apparent in infancy with mildly impaired intellectual development, expressive speech delay, and behavioral abnormalities, including autism spectrum disorder and attention deficit-hyperactivity disorder (ADHD) that has_material_basis_in heterozygous mutation in the MED13 gene on chromosome 17q23.

Signs and symptoms

• Delayed speech and language development
• Global developmental delay
• Wide mouth
• Wide nasal bridge
• Narrow palpebral fissure
• Smooth philtrum
• Periorbital fullness
• Hypertelorism
• Prominent nasal bridge
• Thin upper lip vermilion