/Smith-Lemli-Opitz syndrome

Smith-Lemli-Opitz syndrome

Rare Disease

MONDO:0010035

Also Known As

7-dehydrocholesterol reductase deficiencyRSH syndromeRutledge lethal multiple congenital anomaly syndromeSLO syndromeSLOSSmith-Lemli-Opitz syndromeSmith-Opitz-inborn syndromeSmith Lemli Opitz syndromelethal acrodysgenital syndromepolydactyly, sex reversal, renal hypoplasia, and unilobar lungpolydactyly, sex reversal, renal hypoplasia, and unilobular lung

Definition

Smith-Lemli-Opitz syndrome (SLOS) is characterized by multiple congenital anomalies, intellectual deficit, and behavioral problems.

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Associated Genes

DHCR7 ↗

Gene data from MyGene.info • Click to view on NCBI Gene

External Resources

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