Global Variome shared LOVD

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Phenotype #0000299931 Individual ID 00407799 Associated disease FRDA Phenotype details ataxia, foot deformity, scoliosis, axonal sensory neuropathy, mild dysarthria, 15y-wheelchairbound, 21y-hypertrophic cardiomyopathy, atrophy cervical spinal cord and upper cerebellar vermis Diagnosis/Initial Friedreich's ataxia Inheritance Familial, autosomal recessive Diagnosis/Definite FRDA Age/Examination - Age/Diagnosis - 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 2022-04-08 19:01:34 +02:00 (CEST) Date last edited N/A

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