Global Variome shared LOVD

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Phenotype #0000125505 Individual ID 00152543 Associated disease MEB Phenotype details macrocephaly, tetraparesis, postural control not achieved, frontal bossing, saddle nose, splayed nostrils, low-set ears, micrognathia, severe mental retardation, poor response to sounds and visual stimuli, no eye involvement, CPK 702 UI Diagnosis/Initial muscle-eye-brain disease Inheritance Familial, autosomal recessive Diagnosis/Definite MDDGA-3 Age/Examination 09y (9 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 2018-02-02 21:56:49 +01:00 (CET) Date last edited N/A

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