Global Variome shared LOVD

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Phenotype #0000359857 Individual ID 00475143 Associated disease ataxia Diagnosis/Initial ataxia Diagnosis/Definite SPAX11 Phenotype details see paper; ..., still ambulant, uses walking aids; gait disturbance; nystagmus; broken smooth pursuit; no slow saccades; dysarthria; no 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; no decreased vibration; bladder disturbances; no intellectual disability; normal behavior; motor evoked potentials; somatosensory evoked potentials Inheritance Familial, autosomal dominant Age/Examination 29y (29 years) Age/Onset 12y 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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