Global Variome shared LOVD

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Phenotype #0000359828 Individual ID 00475114 Associated disease ataxia Diagnosis/Initial ataxia Diagnosis/Definite SPAX11 Phenotype details see paper; ..., no developmental delay; ataxia; dysarthria; no eye movements; no upper limb weakness; no lower limb weakness; no spasticity; no extensor planter reflex; normal deep tendon reflex; no ankle clonus; cerebellar cognitive and affective syndrome; no bladder dysfunction; no amyotrophy; MRI brain cerebellar atrophy; disease progression slow Inheritance Unknown Age/Examination 65y (65 years) Age/Onset 60y 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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