Characterization of an Ultra-Rare Disorder

Novel clinical and genetic insight into CXorf56-associated intellectual disability

Novel gene-disease associations are continuously being proposed, but the underlying evidence is frequently based on only a few patients from a single family. CENTOGENE’s focus on rare disease diagnostics has enabled us to internally confirm many pertinent observations. For a rare form of intellectual disability, we recently reported our corresponding clinical genetic data in the European Journal of Human Genetics.


  • Maria Eugenia Rocha
  • Tainá Regina Damaceno Silveira
  • Erina Sasaki
  • D M Sás
  • C.M. Lourenço
  • Krishna Kumar Kandaswamy , PhD
  • Christian Beetz
  • Prof. Arndt Rolfs , MD
  • Dr. Peter Bauer , MD
  • Dr. Willie Reardon
  • Aida M. Bertoli-Avella , MD