Global Variome shared LOVD

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Phenotype #0000358728 Individual ID 00473933 Associated disease ataxia Diagnosis/Initial hereditary ataxia Diagnosis/Definite - Phenotype details onset 14y with gait imbalance; Mild myopia; Mild nystagmus; Ataxia; Limb wasting; Pes cavus; Gait disturbance; Dry skin, generalized; EMG-NCV: Uniform demyelinating sensorimotor polyneuropathy with secondary axonal loss; Brain MRI: Cerebellar (hemispheres and vermis) atrophy. Inheritance Familial, autosomal recessive Age/Examination 24y (24 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 2026-03-06 17:24:40 +01:00 (CET) Date last edited N/A

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