Conditions / Genetic

autosomal recessive intellectual developmental disorder 2

info ยท Genetic

An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the gene encoding cereblon (CRBN) on chromosome 3p26.

Signs and symptoms

  • Mild intellectual disability
  • Self-injurious behavior
  • Severe intellectual disability
  • Seizure
  • Global developmental delay
  • Delayed ability to walk
  • Attention deficit hyperactivity disorder
  • Absent speech