Global Variome shared LOVD

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Phenotype #0000359830 Individual ID 00475116 Associated disease ataxia Diagnosis/Initial spastic ataxia Diagnosis/Definite SPAX11 Phenotype details see paper; ..., no developmental delay; ataxia; no eye movements; upper limb weakness; lower limb weakness; spasticity; no extensor planter reflex; increased deep tendon reflex; no ankle clonus; no cognitive decline; no bladder dysfunction; amyotrophy; MRI brain normal; disease progression slow Inheritance Unknown Age/Examination 62y (62 years) Age/Onset 54y Phenotype/Onset spastic 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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