PedAM
Pediatric Disease Annotations & Medicines
| Disease | ataxia |
| Phenotype | C0162531|hereditary coproporphyria |
| Sentences | 1 |
| PubMedID- 24156084 | The mutations analysis performed on the patient and his asymptomatic first-degree relatives revealed that he was the only member of the family who had a previously reported mutation in the cpox gene (q306x).7 to our knowledge, the presentation of hereditary coproporphyria with acute ataxia has not been reported. |
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