autosomal recessive intellectual developmental disorder 63

An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the CAMK2A gene on chromosome 5q32.

Signs and symptoms

• Inability to walk
• Absent speech
• Interictal epileptiform activity
• Global developmental delay
• Hypotonia
• Myoclonic seizure
• Spasticity
• Severe intellectual disability