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GTR Home > Conditions/Phenotypes > Amelogenesis imperfecta, hypomaturation type, IIa6

Amelogenesis imperfecta, hypomaturation type, IIa6

Summary

Autosomal recessive amelogenesis imperfecta of the pigmented hypomaturation type is characterized by enamel of normal thickness that is hypomineralized and has a mottled appearance. The slightly soft enamel detaches easily from the dentin, and radiographs show a lack of contrast between enamel and dentin (Witkop, 1989). [from OMIM]

Available tests

6 tests are in the database for this condition.

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Clinical tests (5 available)

Molecular Genetics Tests

Research tests

Genes See tests for all associated and related genes

  • Also known as: AI2A6, GPR12A, OGR1, GPR68
    Summary: G protein-coupled receptor 68

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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