2 patient data entries in database for mutations R1096C,Q1236H. Entry # | Mutations | allele 1 | allele 2 |
| Clinical representation | Symptoms | Age group | Age of onset | Age of patient | Age of death | Reference | | 226 | Q1236H R1096C3
| R1096C3 Q1236H
| Onset at 2 years with encephalopathy, hepatopathy, and myoclonus achalasia. Diagnosed as Alpers. | | | 2 | n/a | n/a | Horvath et al, 2006; [view data] | 640 | R1096C3 Q1236H
| R1096C3 Q1236H
| developmental delay, dementia, seizures, Alpers, Family history of Alpers syndrome. | | | 1 | 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: 1.5 Std dev in onset in displayed cases: 0.5
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