autosomal dominant intellectual developmental disorder 26

An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the AUTS2 gene on chromosome 7q11.22.

Signs and symptoms

• Deep philtrum
• Delayed fine motor development
• Thick vermilion border
• Wide mouth
• Depressed nasal bridge
• Decreased palmar creases
• Arthrogryposis multiplex congenita
• Clinodactyly of the 5th finger
• Intellectual disability
• Global developmental delay

Also known as: MRD26; autosomal dominant mental retardation 26; autosomal dominant non-syndromic intellectual disability 26