autosomal dominant intellectual developmental disorder 58

An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the SET gene on chromosome 9q34.

Signs and symptoms

• Delayed speech and language development
• Global developmental delay
• Poor speech
• Intellectual disability
• Microcephaly
• Delayed ability to walk
• Macrotia
• Hypertelorism
• Strabismus
• Short stature