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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
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002808 | Kyphosis |
| HP:0002827 | Hip dislocation |
| HP:0003027 | Mesomelia |
| HP:0003312 | Abnormal form of the vertebral bodies |
| HP:0004322 | Short stature |
| HP:0004422 | Biparietal narrowing |
| HP:0004691 | 2-3 toe syndactyly |
| HP:0005264 | Abnormality of the gallbladder |
| HP:0005599 | Hypopigmentation of hair |
| HP:0005916 | Abnormal metacarpal morphology |
