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GENATLAS PHENOTYPE
last update : 27-11-2019
Symbol SEMD7
Location 16q24.3
Name spondyloepimetaphyseal dysplasia 7
Corresponding gene RPL13
Main clinical features
  • short stature, genu varum, epimetaphyseal anomalies, and platyspondyly, but no hematological abnormality on blood counts
  • rare skeletal dysplasia with short stature, with shortened long bones and
  • metaphyseal involvement, coxa vara, and genu varum
  • ribosomopathy which specifically affects bone tissue
  • Genetic determination not applicable
    Function/system disorder osteo-articular
    Type disease
    Remark(s)
  • both splice and missense variants may destabilize the interaction of RPL13 C terminus with the 28S rRNA and compromise its function in translation (PMID: 31630789))