Global Variome shared LOVD

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Phenotype #0000024983 Individual ID 00028956 Associated disease MCAHS2;GPIBD4 Phenotype details The boy presented early infantile epileptic encephalopathy. He also had severe disability, myoclonus, and quadriplegia. Diagnosis/Initial - Inheritance Unknown Diagnosis/Definite - Age/Examination 06y (6 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Philippe Campeau Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Philippe Campeau Date created 2015-01-06 20:38:34 +01:00 (CET) Date last edited N/A

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