Global Variome shared LOVD

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Phenotype #0000359824 Individual ID 00475110 Associated disease ataxia Diagnosis/Initial ataxia Diagnosis/Definite SPAX11 Phenotype details see paper; ..., no developmental delay; ataxia; no dysarthria; nystagmus; no spasticity; no extensor planter reflex; normal deep tendon reflex; no ankle clonus; no cognitive decline; no bladder dysfunction; no amyotrophy Inheritance Unknown Age/Examination 36y (36 years) Age/Onset 17y 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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