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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:0001765 | Hammertoe |
| HP:0001831 | Short toe |
| HP:0001840 | Metatarsus adductus |
| HP:0001845 | Overlapping toe |
| HP:0002013 | Vomiting |
| HP:0002019 | Constipation |
| HP:0002033 | Poor suck |
| HP:0002079 | Hypoplasia of the corpus callosum |
| HP:0002240 | Hepatomegaly |
| HP:0002283 | Global brain atrophy |
