GAND syndrome

An autosomal dominant intellectual developmental disorder that is characterized by global developmental delay apparent from infancy, with motor delay and moderate to severely impaired intellectual development and that has_material_basis_in an autosomal dominan

An autosomal dominant intellectual developmental disorder that is characterized by global developmental delay apparent from infancy, with motor delay and moderate to severely impaired intellectual development and that has_material_basis_in an autosomal dominant mutation of the GATAD2B gene on chromosome 1q21.3.

Signs and symptoms

• Language impairment
• Strabismus
• Sparse hair
• Severe intellectual disability
• Broad nasal tip
• Global developmental delay
• Short philtrum
• Poor speech
• Hypermetropia
• Blepharophimosis

Also known as: MRD18; autosomal dominant intellectual developmental disorder 18; autosomal dominant mental retardation 18; autosomal dominant non-syndromic intellectual disability 18