autosomal dominant intellectual developmental disorder 2

An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the DOCK8 gene on chromosome 9p24.

Signs and symptoms

• Delayed speech and language development
• Global developmental delay
• Intellectual disability
• Prominent fingertip pads
• Absent speech
• Seizure
• Deeply set eye
• Cholesteatoma
• Midface retrusion
• Prominent supraorbital ridges

Also known as: MRD2; autosomal dominant mental retardation 2; autosomal dominant non-syndromic intellectual disability 2