Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000086953 Individual ID 00109618 Associated disease AT Phenotype details slow disease progression; 7y-ataxia; 45y-wheelchair; dystonia, dysarthria, abnormal movements, ccular telangiectasia; 60y-no cancer Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite atypical ATM Age/Examination - 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 2007-12-01 14:39:18 +01:00 (CET) Date last edited 2019-05-27 21:02:01 +02:00 (CEST)

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