Global Variome shared LOVD

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Phenotype #0000359825 Individual ID 00475111 Associated disease ataxia Diagnosis/Initial spastic gait Diagnosis/Definite SPAX11 Phenotype details see paper; ..., no developmental delay; no ataxia; no eye movements; no upper limb weakness; lower limb weakness; spasticity; extensor planter reflex; increased deep tendon reflex; ankle clonus; cognitive decline; bladder dysfunction; no amyotrophy; EMG perturbed; MRI brain normal; cirrhosis; disease progression moderate Inheritance Unknown Age/Examination 60y (60 years) Age/Onset 46y Phenotype/Onset spastic gait 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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