Conditions / Genetic

amelogenesis imperfecta hypomaturation type 2A4

info · Genetic · ICD-10: K00.5

An amelogenesis imperfecta caused by homozygous mutation in the C4ORF26 gene on chromosome 4q21.

Signs and symptoms

  • Amelogenesis imperfecta
  • Enamel hypomineralization
  • Enamel hypoplasia

Also known as: AI2A4; amelogenesis imperfecta hypomaturation type IIA4; amelogenesis imperfecta type IIA4