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1 patient data entry collated from reference Verhoeven et al, 2011.

allele 1allele 2
Clinical representationSymptomsAge groupPatient ageAge of onsetAge of death
progressive gait instability, mild ataxia, recurrent depressive symptoms, bilateral subcapsular posterior cataract, domestic neglect, inactivity, paranoid ideation, and symptoms of major depression with melancholic features, bilateral ataxia and a slightly dysarthric speech, fatigue and shortness of breath, progressive cerebellar ataxia with bilateral pyramidal syndrome and cardiomyopathy, present for over a decade, was given
-cerebellar ataxia
-movement disorder (ataxia)

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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