Global Variome shared LOVD

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Phenotype #0000054234 Individual ID 00074416 Associated disease GCE Inheritance Unknown Diagnosis/Initial - Age/Examination 05y (5 years) Diagnosis/Definite - Age/Diagnosis - Age/Onset 00y00m01d Phenotype/Onset convulsion, hypotonia Phenotype details nonketotic hyperglycinemia (NKH), MRI no agenesis of corpus callosum, no delay in myelination; EEG neonatal burst suppression, currently normal on vitB6; severe intellectual disability, seizures responsive to vitB6 Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2016-06-28 21:13:42 +02:00 (CEST) Date last edited N/A

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