Emanuel syndrome

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Synonyms: Der(22)t(11;22) syndrome | Supernumerary der(22) syndrome

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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version May 2024

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Emanuel syndrome?

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Clinical Trials

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