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1 patient data entry collated from reference Henao et al, 2016.

Entry
#
Mutations
allele 1allele 2
Clinical representationSymptomsAge groupPatient ageAge of onsetAge of death
668W748S5
W748S5
a unique combination of lesions in the thalamus, cerebellum and inferior olivary nucleus. ataxia, dysarthria, external ophthalmoparesis, generalized areflexia, abnormal leg pallesthesia, wide-based gait, positive, Romberg test, dysmetria, and a predominantly left dysdiadochokinesia. distal sensorimotor neuropathy.
-movement disorder (ataxia)
-PEO
-dysarthria
-areflexia
adult
2924n/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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