PedAM
Pediatric Disease Annotations & Medicines
| Disease | cerebrotendinous xanthomatosis |
| Phenotype | C0014544|epilepsy |
| Sentences | 1 |
| PubMedID- 22336472 | A case of cerebrotendinous xanthomatosis presenting with epilepsy as an initial symptom with a novel v413d mutation in the cyp27a1 gene. |
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