Global Variome shared LOVD

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Phenotype #0000125513 Individual ID 00152551 Associated disease MEB Phenotype details see paper; ..., classical MEB associated, marked hydrocephalus Diagnosis/Initial muscle-eye-brain disease Inheritance Familial, autosomal recessive Diagnosis/Definite MDDGA-3 Age/Examination 08y (8 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 2018-02-03 12:56:37 +01:00 (CET) Date last edited N/A

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