Supernumerary der(22)t(11;22) syndrome (Q93122)
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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. |
Statements
CID11:ID_1821612421
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dki-india-ID_1821612421
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Concluído
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15 August 2026
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