Conditions / Genetic

amelogenesis imperfecta type 1A

info · Genetic · ICD-10: K00.5

An amelogenesis imperfecta that has_material_basis_in heterozygous mutation in the beta-3 laminin gene (LAMB3) on chromosome 1q32.

Signs and symptoms

  • Amelogenesis imperfecta
  • Enamel hypoplasia
  • Taurodontia
  • Generalized microdontia
  • Dental enamel pits
  • Abnormality of the skin

Also known as: AI1A; amelogenesis imperfecta hypoplastic type IA; amelogenesis imperfecta type IA