amelogenesis imperfecta hypomaturation type 2A2

info · Genetic · ICD-10: K00.5

An amelogenesis imperfecta that has_material_basis_in homozygous mutation in the matrix metalloproteinase-20 gene (MMP20).

Signs and symptoms

Amelogenesis imperfecta
Yellow-brown discoloration of the teeth
Hypomature enamel
Anterior open-bite malocclusion

Also known as: AI2A2; amelogenesis imperfecta hypomaturation type IIA2; amelogenesis imperfecta pigmented hypomaturation type 2; amelogenesis imperfecta type IIA2