Catalog

Supernumerary der(22)t(11;22) syndrome

No MMS code

Link to WHO Definition

Supernumerary der(22)t(11;22) syndrome – http://id.who.int/icd/entity/1821612421

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.