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Emanuel syndrome

ORPHA96170
Synonym(s) Der(22)t(11;22) syndrome
Supernumerary der(22) syndrome
Prevalence -
Inheritance -
Age of onset -
ICD-10
  • Q92.6
OMIM
UMLS
  • C1836929
MeSH
  • C535733
MedDRA -

Summary

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 parebral fissures, deep set eyes, low hanging columnessa and long philtrum), congenital heart defects and kidney abnormalities.


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Detailed information

Summary information
Clinical genetics review
  • EN (2010)
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