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GTR Home > Conditions/Phenotypes > Acrodysostosis 2 with or without hormone resistance

Acrodysostosis 2 with or without hormone resistance

Synonyms
ACRODYSOSTOSIS 2 WITH HORMONE RESISTANCE; ACRODYSOSTOSIS 2 WITHOUT HORMONE RESISTANCE

Summary

Acrodysostosis-2 (ACRDYS2) is a rare skeletal dysplasia characterized by brachydactyly, facial dysostosis, and spinal stenosis. Many patients have intellectual disability and some have hormone resistance (summary by Michot et al., 2012 and Lee et al., 2012). For a discussion of genetic heterogeneity of acrodysostosis, see ACRDYS1 (101800). [from OMIM]

Available tests

29 tests are in the database for this condition.

Clinical tests (29 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ACRDYS2, DPDE3, HSPDE4D, PDE43, PDE4DN2, STRK1, PDE4D
    Summary: phosphodiesterase 4D

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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