2 patient data entries in database for mutations G11D,R627Q. Entry # | Mutations | allele 1 | allele 2 |
| Clinical representation | Symptoms | Age group | Age of onset | Age of patient | Age of death | Reference | | 625 | G11D R627Q5
| R852C1
| Seizures, PEO, Ataxia Neuropathy Spectrum, Stroke, chorea, ataxia, ptosis, retinitis pigmentosa, liver transplant | - | movement disorder (ataxia) | |
| | 15 | 19 | n/a | Wong et al, 2008; [view data] | 628 | G11D R627Q5
| R852C1
| Ataxia Neuropathy Spectrum, Seizures, PEO, lactic acidosis, stroke, chorea, ataxia, ptosis, retinitis pigmentosa, liver transplans | - | movement disorder (ataxia) | |
| | 15 | n/a | n/a | Wong et al, 2008; [view data] |
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. Number of displayed patient cases: 2 Avg age of onset in displayed cases: 15.0 Std dev in onset in displayed cases: 0.0
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