Global Variome shared LOVD

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Phenotype #0000104101 Individual ID 00131880 Associated disease IMD Phenotype details immunodeficiency (IMD-47), hepatopathy, cutis laxa, dilatation of sinus aortae, cholestasis, hepatopathy, diaphragmatic hernia, recurrent infections Diagnosis/Initial - Inheritance Familial, X-linked recessive Diagnosis/Definite - Age/Examination 01y (1 year) Age/Onset 00y01m Phenotype/Onset cutis laxa Protein - Owner name Jeroen Breckpot Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International Created by Jeroen Breckpot Date created 2017-09-20 11:49:16 +02:00 (CEST) Date last edited 2017-10-24 17:02:19 +02:00 (CEST)

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