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1 patient data entry collated from reference Sidiropoulos et al, 2013. Entry
# | | Mutations | | allele 1 | allele 2 |
| Clinical representation | Symptoms | Age group | Patient age | Age of onset | Age of death | | | 705 | | S1080T3
| almost lifelong action tremor, peripheral neuropathy, progressive sensorineural hearing loss, and a strong family history of tremor. CT of the brain was notable for extensive intracranial calcifications. | | | 55 | n/a | n/a |
1-5 pathogenic cluster assignment of mutations. Mutations displayed without a superscript number are outside of the assigned pathogenic clusters. See cluster definitions for details.
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