Global Variome shared LOVD

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Phenotype #0000124491 Individual ID 00152148 Associated disease MEB Phenotype details severe autistic features; CPK 1868 Diagnosis/Initial muscle-eye-brain disease Inheritance Familial, autosomal recessive Diagnosis/Definite MDDGA-3 Age/Examination 15y (15 years) Age/Diagnosis - Age/Onset 03y 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 2006-08-13 20:05:33 +02:00 (CEST) Date last edited 2018-02-03 13:33:05 +01:00 (CET)

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