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GTR Home > Conditions/Phenotypes > Spondyloepimetaphyseal dysplasia, Isidor-Toutain type

Spondyloepimetaphyseal dysplasia, Isidor-Toutain type

Summary

The Isidor-Toutain type of spondyloepimetaphyseal dysplasia (SEMDIST) is characterized by normal birth length, early postnatal growth deficiency, severe short stature, and genu varum. Skeletal radiographs show platyspondyly and severe epiphyseal and metaphyseal changes in the lower limbs (Le Caignec et al., 2019). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: BBC1, D16S444E, D16S44E, L13, SEMDIST, eL13, RPL13
    Summary: ribosomal protein L13

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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