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GTR Home > Conditions/Phenotypes > Spondyloepimetaphyseal dysplasia, di rocco type

Spondyloepimetaphyseal dysplasia, di rocco type

Summary

Spondyloepimetaphyseal dysplasia of the Di Rocco type (SEMDDR) is characterized by short stature, joint pain, and genu varum, as well as SEMD involving primarily the hips but also affecting the wrists, hands, knees, and ankles. Patients also exhibit variable degrees of metaphyseal and spine involvement (Di Rocco et al., 2018). [from OMIM]

Available tests

2 tests are in the database for this condition.

Clinical tests (2 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: BHD, C4orf20, DEE106, SEMDDR, UFSP2
    Summary: UFM1 specific peptidase 2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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