Global Variome shared LOVD

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Phenotype #0000359850 Individual ID 00475136 Associated disease ataxia Diagnosis/Initial ataxia Diagnosis/Definite SPAX11 Phenotype details see paper; ..., lost ambulation; gait disturbance; nystagmus; broken smooth pursuit; slow saccades; dysarthria; dysmetria; no dysphagia; brisk knee jerks; ankle clonus; normal upper limb tonus; increased lower limb tonus; lower limb weakness; Babinski signs; no fasciculations, no cramps; bladder disturbances; no intellectual disability; normal behavior; somatosensory evoked potentials; no brainstem evoked potentials; no visual evoked potentials Inheritance Familial, autosomal dominant Age/Examination 60y (60 years) Age/Onset 26y Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2026-04-02 14:28:57 +02:00 (CEST) Date last edited N/A

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