eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | wilson disease |
| Comorbidity | C1096063|intractable epilepsy |
| Sentences | 1 |
| PubMedID- 22727047 | Polg1-related disorders include a spectrum of overlapping and heterogeneous clinical phenotypes including alpers syndrome (progressive hepatocerebral degeneration, leading to developmental regression, intractable epilepsy, hepatic failure, and death), the ataxia-neuropathy spectrum, spinocerebellar ataxia with epilepsy, mitochondrial neurogastrointestinal encephalopathy, parkinsonism, and progressive external ophthalmoplegia (peo) [18]. |
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