autosomal recessive intellectual developmental disorder 39

An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the TTI2 gene on chromosome 8p12.

Signs and symptoms

• Kyphoscoliosis
• Microcephaly
• Delayed speech and language development
• Moderate intellectual disability
• Short stature
• Delayed ability to walk
• Severe intellectual disability
• Aggressive behavior
• Motor stereotypy
• Hyperactivity