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1 patient data entry collated from reference Staropoli et al, 2012. Entry
# | | Mutations | | allele 1 | allele 2 |
| Clinical representation | Symptoms | Age group | Patient age | Age of onset | Age of death | | | 458 | | G517V2
| Diffuse hypotonia, hypoactive reflexes, and roving eye movements. Decreased vis- ual acuity, mild bilateral macular pigmentary changes, normal refractive indices, bilateral ptosis, diffuse cerebral atrophy, and disconjugate, nystagmoid eye movements. In addition to G517V, affected by gene CLN5 c.61C>T, p.Pro21Ser and de novo exon 3 deletion. | | | n/a | 0.1 | 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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