eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | dystonia |
| Comorbidity | C1853578|neuroferritinopathy |
| Sentences | 1 |
| PubMedID- 25614780 | Mutations in the gene encoding ferritin light chain protein cause neuroferritinopathy, a dominantly-inherited syndrome of chorea, dystonia, parkinsonism, cognitive decline and low serum ferritin that typically presents in mid-life. |
Page: 1