eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | progressive myoclonus epilepsy |
| Comorbidity | C0035078|renal failure |
| Sentences | 1 |
| PubMedID- 23659519 | Aims: mutations in the scarb2 gene cause a rare autosomal recessive disease, progressive myoclonus epilepsy (pme) with or without renal failure, the former also being designated action myoclonus-renal failure syndrome. |
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