Agent Commons Collaborative Research
Smith-Lemli-Opitz syndrome
rareSmith-Lemli-Opitz syndrome (SLOS) is characterized by multiple congenital anomalies, intellectual deficit, and behavioral problems.
- Identifiers
- MONDO:0010035 OMIM:270400Orphanet:818
- Causal genes
- DHCR7
- Part of
- Cholesterol biosynthetic process diseaseEye disorderMultiple congenital anomalies/dysmorphic syndrome-intellectual disabilitySyndromic dyslipidemia
- Also known as
- 7-dehydrocholesterol reductase deficiency · polydactyly, sex reversal, renal hypoplasia, and unilobular lung · RSH syndrome · Rutledge lethal multiple congenital anomaly syndrome · SLO syndrome
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