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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
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:0000252 | Microcephaly |
| HP:0000286 | Epicanthus |
| HP:0000316 | Hypertelorism |
| HP:0000343 | Long philtrum |
| HP:0000347 | Micrognathia |
| HP:0000368 | Low-set, posteriorly rotated ears |
| HP:0000407 | Sensorineural hearing impairment |
| HP:0000431 | Wide nasal bridge |
| HP:0000453 | Choanal atresia |
| HP:0000463 | Anteverted nares |
