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GTR Home > Conditions/Phenotypes > Amelogenesis imperfecta hypomaturation type 2A2

Amelogenesis imperfecta hypomaturation type 2A2

Synonyms
AMELOGENESIS IMPERFECTA, PIGMENTED HYPOMATURATION TYPE, 2; Amelogenesis imperfecta, hypomaturation type, IIA2; Amelogenesis imperfecta, type IIA2

Summary

Autosomal recessive amelogenesis imperfecta 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, 1988). [from OMIM]

Available tests

11 tests are in the database for this condition.

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Clinical tests (10 available)

Molecular Genetics Tests

Research tests

Genes See tests for all associated and related genes

  • Also known as: AI2A2, MMP-20, MMP20
    Summary: matrix metallopeptidase 20

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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