amelogenesis imperfecta type 1G

info · Genetic · ICD-10: K00.5

An amelogenesis imperfecta that has_material_basis_in homozygous or compound heterozygous mutation in the FAM20A gene on chromosome 17q24.

Signs and symptoms

Amelogenesis imperfecta
Gingival fibromatosis
Delayed eruption of permanent teeth
Nephrocalcinosis
Renal insufficiency
Curved dental root
Enuresis
Overgrowth
Impaired renal concentrating ability
Polyuria

Also known as: AI1G; AIGFS; ERS; amelogenesis imperfecta and gingival fibromatosis syndrome; amelogenesis imperfecta hypoplastic with nephrocalcinosis