autosomal recessive intellectual developmental disorder 6

An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the ionotropic glutamate receptor-6 gene (GRIK2) on chromosome 6q16.

Signs and symptoms

• Atonic seizure
• Global developmental delay
• Intellectual disability
• Torticollis
• Reduced social responsiveness
• Mild intellectual disability
• Postural tremor
• Kinetic tremor
• Involuntary movements
• Myoclonus