Global Variome shared LOVD

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Phenotype #0000124487 Individual ID 00152144 Associated disease MEB Phenotype details see paper; ..., CPK 4485; severe intellectual disability (HP:0010864) Diagnosis/Initial muscle-eye-brain disease Inheritance Familial, autosomal recessive Diagnosis/Definite MDDGA-3 Age/Examination 06y (6 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 2006-09-23 12:32:31 +02:00 (CEST) Date last edited 2018-02-03 16:20:36 +01:00 (CET)

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