Emanuel syndrome
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.
MONDO:0003847
hereditary disease
is_a
Der(22)t(11;22) syndrome
exact
Emanuel syndrome
exact
supernumerary der(22) syndrome
exact
supernumerary der(22),t(11;22) syndrome
related