You are using an outdated browser. Please upgrade your browser to improve your experience.

Emanuel syndrome

Disease Summary
Associated Targets (0)

Explore Associated Targets
Mondo 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 downslanting parebral fissures, deep set eyes, low hanging columnella and long philtrum), congenital heart defects and kidney abnormalities.
Mondo Term and Equivalent IDs
MONDO:0012176:  Emanuel syndrome
GARD:0009835: 
MESH:C535733: 
Orphanet:96170: 
SCTID:702417004: 
UMLS:C1836929: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found