Global Variome shared LOVD

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Phenotype #0000086989 Individual ID 00109923 Associated disease AT Phenotype details see paper; ..., 24m-ataxia; telangiectasia; no malignancy; respiratory disease; immuno-deficiency Diagnosis/Initial ataxia Inheritance Familial, autosomal recessive Diagnosis/Definite AT Age/Examination 09y (9 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Patrick Concannon Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Patrick Concannon Date created 2012-01-03 15:45:22 +01:00 (CET) Date last edited 2024-11-07 15:23:13 +01:00 (CET)

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