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Smith-Lemli-Opitz syndrome
Summary
- Synonym
-
- Rutledge lethal multiple congenital anomaly syndrome
- Smith-Opitz-Inborn syndrome
- Super Class
- lipid metabolism disorder
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P08842 | Steryl-sulfatase | |
| P37268 | Squalene synthase | |
| Q9UBM7 | 7-dehydrocholesterol reductase |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002506 | Diffuse cerebral atrophy |
| HP:0002566 | Intestinal malrotation |
| HP:0002579 | Gastrointestinal dysmotility |
| HP:0002611 | Cholestatic liver disease |
| HP:0002983 | Micromelia |
| HP:0003073 | Hypoalbuminemia |
| HP:0003146 | Hypocholesterolemia |
| HP:0003270 | Abdominal distention |
| HP:0003577 | Congenital onset |
| HP:0005280 | Depressed nasal bridge |
