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3 patient data entries in database for clusters A467T and 4 in age group "infantile". Entry
# | | Mutations | | allele 1 | allele 2 |
| Clinical representation | Symptoms | Age group | Age of onset | Age of patient | Age of death | Reference | | | 13 | A467T2
| R227W4
| Onset at 4 months with FTT, dementia, hypotonia, seizures, myoclonus, GI problems, hepatopathy, hearing loss, delayed myelinisation. Death at 10 months | | | 0.3 | n/a | 0.8 | de Vries et al, 2007; [view data] | | 16 | A467T2
| R227P4
| Severe childhood multi-system disorder, epilepsy and failure to thrive, GI problems, hypotonia, retardation. | | | 0.5 | n/a | 1 | de Vries et al, 2007; [view data] | | 17 | A467T2
| R227P4
| FTT, died after epilepticus. | | | n/a | n/a | 1 | Blok et al, 2009; [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: 3
Avg age of onset in displayed cases: 0.6
Std dev in onset in displayed cases: 0.3
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