Global Variome shared LOVD

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Phenotype #0000347642 Individual ID 00459738 Associated disease AT Phenotype details see paper; ..., still ambulant; movement disorders; ocular motor abnormalities; neuropathy; pyramidal syndrome; no telangiectasia; elevated AFP level; no karyotype abnormalities; immunoglobulin deficiency; MRI cerebellar atrophy Diagnosis/Initial dysarthria Inheritance Familial, autosomal recessive Diagnosis/Definite AT Age/Examination 27y (27 years) Age/Diagnosis 26y Age/Onset 6y 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 2025-01-11 14:57:49 +01:00 (CET) Date last edited N/A

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