Global Variome shared LOVD

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Phenotype #0000188538 Individual ID 00249665 Associated disease ataxia Diagnosis/Initial late-onset ataxia Diagnosis/Definite CANVAS Phenotype details peripheral neuropathy (HP:0009830); cerebellar dysfunction; vestibular areflexia (HP:0008568); no autonomic dysfunction (-HP:0012332); no cough (-HP:0012735); absent; absent sensory action potentials lower limbs; normal compound motor action potential; no cerebellar atrophy (-HP:0001272) Inheritance Familial, autosomal recessive Age/Examination 63y (63 years) Age/Onset 48y Phenotype/Onset unsteadiness in the dark, numb feet, pain Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2019-08-02 10:39:39 +02:00 (CEST) Date last edited N/A

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