Global Variome shared LOVD

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Phenotype #0000359861 Individual ID 00475147 Associated disease ataxia Diagnosis/Initial delayed motor development Diagnosis/Definite SPAX11 Phenotype details see paper; ..., 30y-lost ambulation, used walking aids; delayed motor development; gait disturbance; nystagmus; broken smooth pursuit; no slow saccades; dysarthria; brisk knee jerks; no ankle clonus; normal upper limb tonus; increased lower limb tonus; lower limb weakness; Babinski signs; no fasciculations, no cramps; decreased vibration; no bladder disturbances; dysexecutive syndrome; normal behavior; MRI cerebellar atrophy; motor evoked potentials Inheritance Isolated (sporadic) Age/Examination 45y (45 years) Age/Onset - Phenotype/Onset - 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 14:28:57 +02:00 (CEST) Date last edited N/A

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