Global Variome shared LOVD

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Phenotype #0000334617 Individual ID 00445381 Associated disease Danon;GSD2B Phenotype details see paper; ..., visual impairment secondary to retinitis pigmentosa; uneventful spontaneous pregnancy/delivery; <14m-normal development; 18m-heart murmur, ECG asymptomatic WPW Diagnosis/Initial Danon disease Inheritance Familial, X-linked dominant Diagnosis/Definite Danon disease Age/Examination 03y (3 years) Age/Diagnosis - Age/Onset - 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 2024-01-11 14:45:44 +01:00 (CET) Date last edited N/A

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