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Emanuel syndrome
Disease definition
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 downslanting parebral fissures, deep set eyes, low hanging columnella and long philtrum), congenital heart defects and kidney abnormalities.
ORPHA:96170
Detailed information
Article for general public
Professionals
- Summary information
- Greek (2012, pdf)
- Clinical genetics review
- English (2017)
Additional information
Further information on this disease
Health care resources for this disease
Research activities on this disease
Specialised Social Services
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