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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:0000822 | Hypertension |
| HP:0000826 | Precocious puberty |
| HP:0000960 | Sacral dimple |
| HP:0000964 | Eczematoid dermatitis |
| HP:0001153 | Septate vagina |
| HP:0001272 | Cerebellar atrophy |
| HP:0001290 | Generalized hypotonia |
| HP:0001305 | Dandy-Walker malformation |
| HP:0001338 | Partial agenesis of the corpus callosum |
| HP:0001394 | Cirrhosis |
