Global Variome shared LOVD

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Phenotype #0000124507 Individual ID 00152164 Associated disease MEB Phenotype details see paper; ... Diagnosis/Initial muscle-eye-brain disease Inheritance Familial, autosomal recessive Diagnosis/Definite MDDGA-3 Age/Examination 02y (2 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein severly reduced enzyme activity Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2006-09-23 12:11:04 +02:00 (CEST) Date last edited 2018-02-03 15:56:48 +01:00 (CET)

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