Conditions / Genetic

amelogenesis imperfecta hypomaturation type 2A5

info · Genetic · ICD-10: K00.5

An amelogenesis imperfecta that has_material_basis_in homozygous mutation in the SLC24A4 gene on chromosome 14q32.

Signs and symptoms

  • Carious teeth
  • Amelogenesis imperfecta
  • Nail dysplasia
  • Yellow-brown discoloration of the teeth

Also known as: AI2A5; amelogenesis imperfecta hypomaturation type IIA5; amelogenesis imperfecta type IIA5