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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:0000003 | Multicystic kidney dysplasia |
| HP:0000028 | Cryptorchidism |
| HP:0000047 | Hypospadias |
| HP:0000062 | Ambiguous genitalia |
| HP:0000074 | Ureteropelvic junction obstruction |
| HP:0000126 | Hydronephrosis |
| HP:0000154 | Wide mouth |
| HP:0000171 | Microglossia |
| HP:0000175 | Cleft palate |
| HP:0000212 | Gingival overgrowth |
