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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:0001156 | Brachydactyly |
| HP:0001162 | Postaxial hand polydactyly |
| HP:0001171 | Split hand |
| HP:0001249 | Intellectual disability |
| HP:0001250 | Seizure |
| HP:0001252 | Hypotonia |
| HP:0001262 | Excessive daytime somnolence |
| HP:0001263 | Global developmental delay |
| HP:0001276 | Hypertonia |
| HP:0001360 | Holoprosencephaly |
