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GTR Home > Conditions/Phenotypes > Humerofemoral hypoplasia with radiotibial ray deficiency

Humerofemoral hypoplasia with radiotibial ray deficiency

Summary

Humerofemoral hypoplasia with radiotibial ray deficiency (HHRRD) is a severe dysostosis characterized by reduction of all 4 limbs as well as hypoplasia of the upper limb girdle and pelvis. Rudimentary finger- or toe-like appendages may be present (Szenker-Ravi et al., 2018). [from OMIM]

Available tests

3 tests are in the database for this condition.

Clinical tests (3 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CRISTIN2, HHRRD, TETAMS2, RSPO2
    Summary: R-spondin 2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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