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Spondyloepiphyseal dysplasia, nishimura type

Summary

The Nishimura type of spondyloepiphyseal dysplasia (SEDN) is characterized by disproportionate short stature with short limbs, small hands and feet, and midface hypoplasia with small nose. Radiologic hallmarks include mild spondylar dysplasia, delayed epiphyseal ossification of the hip and knee, and severe brachydactyly with cone-shaped phalangeal epiphyses (Grigelioniene et al., 2019). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: MIRN140, SEDN, miRNA140, mir-140, MIR140
    Summary: microRNA 140

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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