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

Amelogenesis imperfecta type 1C

Synonyms
AMELOGENESIS IMPERFECTA, LOCAL HYPOPLASTIC TYPE, AUTOSOMAL RECESSIVE; Amelogenesis imperfecta, type IC

Summary

Researchers have described at least 14 forms of amelogenesis imperfecta. These types are distinguished by their specific dental abnormalities and by their pattern of inheritance. Additionally, amelogenesis imperfecta can occur alone without any other signs and symptoms or it can occur as part of a syndrome that affects multiple parts of the body.\n\nAmelogenesis imperfecta is a disorder of tooth development. This condition causes teeth to be unusually small, discolored, pitted or grooved, and prone to rapid wear and breakage. Other dental abnormalities are also possible. These defects, which vary among affected individuals, can affect both primary (baby) teeth and permanent (adult) teeth. [from MedlinePlus Genetics]

Available tests

13 tests are in the database for this condition.

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Clinical tests (12 available)

Molecular Genetics Tests

Research tests

Genes See tests for all associated and related genes

  • Also known as: ADAI, AI1C, AIH2, ENAM
    Summary: enamelin

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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