Smith-Lemli-Opitz syndrome

Definition

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

Also known as 7-dehydrocholesterol reductase deficiency, RSH syndrome, Rutledge lethal multiple congenital anomaly syndrome, SLO syndrome, SLOS, Smith-Lemli-Opitz syndrome — per MONDO

Also identified as

• DOID 14692 per MONDO
• ICD10CM E78.72 per MONDO
• ICD9 759.89 per MONDO
• MESH D019082 per MONDO
• NCIT C85071 per MONDO
• OMIM 270400 per MONDO
• Orphanet 818 per MONDO
• SCTID 43929004 per MONDO
• UMLS C0175694 per MONDO