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GTR Home > Conditions/Phenotypes > Amelogenesis imperfecta type 1E

Amelogenesis imperfecta type 1E

Synonyms
Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 1; Amelogenesis imperfecta X-linked 1; Amelogenesis imperfecta, hypomaturation type, with snow-capped teeth; ENAMEL HYPOPLASIA, X-LINKED 1; Enamel hypoplasia X-linked

Summary

Amelogenesis imperfecta is an inherited defect of dental enamel formation that shows both clinical and genetic heterogeneity. In the hypoplastic type of AI, the enamel is of normal hardness but does not develop to normal thickness. The thinness of the enamel makes the teeth appear small. Radiographically, enamel contrasts normally from dentin. The surface of the enamel can vary, showing smooth, rough, pitted, or local forms (Witkop, 1988). [from OMIM]

Available tests

18 tests are in the database for this condition.

Clinical tests (17 available)

Molecular Genetics Tests

Research tests

Genes See tests for all associated and related genes

  • Also known as: AI1E, AIH1, ALGN, AMG, AMGL, AMGX, AMELX
    Summary: amelogenin X-linked

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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