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GTR Home > Conditions/Phenotypes > Birt-Hogg-Dube syndrome 2

Birt-Hogg-Dube syndrome 2

Summary

Birt-Hogg-Dube syndrome-2 (BHD2) is characterized by lipomatosis and fibrofolliculomas as well as renal cell carcinoma and other cancers (van de Beek et al., 2023). For a general phenotypic description and a discussion of genetic heterogeneity of BHD, see BHD1 (135150). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: BHD2, PFM7, TRIS, PRDM10
    Summary: PR/SET domain 10

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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