Global Variome shared LOVD

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Phenotype #0000179236 Individual ID 00231016 Associated disease AT Phenotype details <8y ataxia (HP:0001251); <15y no loss of walking; <15y oculomotor apraxia (HP:0000657); <15y ocular telangiectasia; no IgA deficiency (-HP:0002720) Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite typical ATM Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license No license selected Created by Johan den Dunnen Date created 2019-05-27 17:14:32 +02:00 (CEST) Date last edited N/A

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