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1 patient data entry collated from reference Staropoli et al, 2012.

allele 1allele 2
Clinical representationSymptomsAge groupPatient ageAge of onsetAge of death
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.

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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