Global Variome shared LOVD

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Phenotype #0000347643 Individual ID 00459739 Associated disease AT Phenotype details see paper; ..., still ambulant; movement disorders; ocular motor abnormalities; no neuropathy; no pyramidal syndrome; no telangiectasia; elevated AFP level; no karyotype abnormalities; no immunoglobulin deficiency; MRI cerebellar atrophy Diagnosis/Initial dystonia Inheritance Familial, autosomal recessive Diagnosis/Definite AT Age/Examination 30y (30 years) Age/Diagnosis 29y Age/Onset 8y 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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