Conditions / Genetic

chromosome 2p12-p11.2 deletion syndrome

info ยท Genetic

A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 2p12-p11.2 region.

Signs and symptoms

  • Sloping forehead
  • Anteverted nares
  • Gait ataxia
  • Narrow mouth
  • Blepharophimosis
  • Prominent nasal tip
  • Aggressive behavior
  • Short distal phalanx of finger
  • Large fontanelles
  • Reduced visual acuity