U.S. flag

An official website of the United States government

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]

Associated cytogenetic location

  • Location: 11q22.2

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

Show allHide all

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.