Global Variome shared LOVD

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Phenotype #0000124481 Individual ID 00152138 Associated disease MEB Phenotype details - Diagnosis/Initial muscle-eye-brain disease Inheritance Familial, autosomal recessive Diagnosis/Definite MDDGA-3 Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein POMGnT1 activity severly reduced Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2006-08-13 17:44:56 +02:00 (CEST) Date last edited 2018-02-03 21:56:50 +01:00 (CET)

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