autosomal dominant intellectual developmental disorder 21

An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the CTCF gene on chromosome 16q22.1.

Signs and symptoms

• Hypertonia
• Thin vermilion border
• Micrognathia
• Intellectual disability
• Global developmental delay
• Ventricular septal defect
• Delayed speech and language development
• Hypermetropia
• Feeding difficulties
• Atrial septal defect

Also known as: MRD21; autosomal dominant mental retardation 21; autosomal dominant non-syndromic intellectual disability 21