Global Variome shared LOVD

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Phenotype #0000124478 Individual ID 00152135 Associated disease MEB Phenotype details see paper; ..., CPK 6900; intellectual disability (HP:0001249) Diagnosis/Initial muscle-eye-brain disease Inheritance Familial, autosomal recessive Diagnosis/Definite MDDGA-3 Age/Examination 00y06m (6 months) 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 2006-09-23 15:15:31 +02:00 (CEST) Date last edited 2018-02-03 17:35:03 +01:00 (CET)

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