Global Variome shared LOVD

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Phenotype #0000358388 Individual ID 00473593 Associated disease ataxia Diagnosis/Initial hereditary ataxia Diagnosis/Definite - Phenotype details onset 1.5y, Delayed walking; Frequent falls; Bilateral hearing loss since 3-4y , Lower extremities weakness; Ataxia; Mild scoliosis & Lordosis; EMG-NCV: mostly distal axonal polyneuropathy, pure sensory type; Positive Romberg test; Impaired finger to nose & tandem gait; Hearing testing: Suspicious of auditory neuropathy. Inheritance Familial, autosomal recessive Age/Examination 12y (12 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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