The information on this page is for informational purposes only and does not constitute medical advice. Consult your genetic counselor or specialist physician for treatment decisions.

Smith-Lemli-Opitz Syndrome

Prevalence: 1/30000

metabolic

Official·OMIM:270400 Official·ORPHA818

Cholesterol synthesis defect due to DHCR7 gene mutations.

Associated Genes

No gene records found associated with this disease.