Smith-Lemli-Opitz syndrome Gene Set

Dataset ClinVar Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description OMIM mapping confirmed by DO. [LS]. (Human Disease Ontology, DOID_14692)
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1 genes associated with the Smith-Lemli-Opitz syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Symbol Name
DHCR7 7-dehydrocholesterol reductase