Conditions / Genetic

amelogenesis imperfecta type 2A1

info · Genetic · ICD-10: K00.5

An amelogenesis imperfecta that has_material_basis_in homozygous mutation in the kallikrein-4 gene (KLK4) on chromosome 19q13.

Signs and symptoms

  • Amelogenesis imperfecta
  • Enamel hypomineralization
  • Yellow-brown discoloration of the teeth
  • Carious teeth
  • Anterior open-bite malocclusion

Also known as: AI2A1; amelogenesis imperfecta pigmented hypomaturation type 1; amelogenesis imperfecta type IIA1