emanuel syndrome Gene Set

Dataset OMIM Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description 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 parebral fissures, deep set eyes, low hanging columnessa and long philtrum), congenital heart defects and kidney abnormalities. (Orphanet Rare Disease Ontology, Orphanet_96170)
External Link http://www.omim.org/entry/609029
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Genes

1 genes associated with the emanuel syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

Symbol Name
DER22T11-22 Emanuel syndrome