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Emanuel syndrome

Disease definition

Emanuel syndrome is a constitutional genomic disorder due to the presence of a supernumerary derivative 22 chromosome and characterized by severe intellectual disability, characteristic facial dysmorphism (micrognathia, hooded eyelids, upslanting downslanting parebral fissures, deep set eyes, low hanging columnella and long philtrum), congenital heart defects and kidney abnormalities.

ORPHA:96170

  • Synonym(s):
    • Der(22)t(11;22) syndrome
    • Supernumerary der(22) syndrome
  • Prevalence: Unknown
  • Inheritance: -
  • Age of onset: Neonatal
  • ICD-10: Q92.6
  • OMIM: 609029
  • UMLS: C1836929
  • MeSH: C535733
  • GARD: 9835
  • MedDRA: -

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