Global Variome shared LOVD

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Phenotype #0000345793 Individual ID 00110313 Associated disease AT Phenotype details see paper; ..., 6m-choreo-athetosis; 47y-deceased (malignancy); 43m-wheelchair bound; telangiectasia; 42y-breast cancer. 46y-leukemia; no respiratory disease; no immuno-deficiency Diagnosis/Initial choreo-athetosis Inheritance Familial, autosomal recessive Diagnosis/Definite AT Age/Examination 47y (47 years) Age/Diagnosis - Age/Onset 00y06m Phenotype/Onset choreo-athetosis Protein - Owner name Johan den Dunnen Database submission license No license selected Created by Johan den Dunnen Date created 2024-11-07 14:31:02 +01:00 (CET) Date last edited N/A

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