Global Variome shared LOVD

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Phenotype #0000359821 Individual ID 00475107 Associated disease ataxia Diagnosis/Initial ataxia Diagnosis/Definite SPAX11 Phenotype details see paper; ..., learning disability; ataxia; dysarthria; no upper limb weakness; lower limb weakness; spasticity; extensor planter reflex; increased deep tendon reflex; ankle clonus; no bladder dysfunction; no amyotrophy; EMG upper limb elongated motor potential; MRI brain cerebellar atrophy; scoliosis; disease progression slow Inheritance Isolated (sporadic) Age/Examination 20y (20 years) Age/Onset 2y Phenotype/Onset ataxia 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 10:00:11 +02:00 (CEST) Date last edited N/A

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