Supernumerary der(22)t(11;22) syndrome (Q93122): Difference between revisions

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+dki-india-ID_1821612421
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+https://pauloleads.com.br/cases-publicos/
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+August 2026Timestamp +2026-08-15T00:00:00Z
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Latest revision as of 08:14, 16 August 2026

Emanuel syndrome is a constitutional genomic disorder due to the presence of a supernumerary derivative 22 chromosome and characterised 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.

Language	Label	Description	Also known as
default for all languages	ID_1821612421
English	Supernumerary der(22)t(11;22) syndrome	Emanuel syndrome is a constitutional genomic disorder due to the presence of a supernumerary derivative 22 chromosome and characterised 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.