Schinzel-Giedion syndrome Gene Set

Dataset ClinVar Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description Schinzel-Giedion syndrome (SGS) is an ectodermal dysplasia syndrome chiefly characterized by a distinctive facial dysmorphosis, hydronephrosis, severe developmental delay, typical skeletal malformations, and genital and cardiac anomalies. (Orphanet Rare Disease Ontology, Orphanet_798)
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1 genes associated with the Schinzel-Giedion syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Symbol Name
SETBP1 SET binding protein 1