Global Variome shared LOVD

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Phenotype #0000341657 Individual ID 00453013 Associated disease GCE Inheritance Familial, autosomal recessive Diagnosis/Initial epilepsy Age/Examination 00y00m27d (27 days) Diagnosis/Definite phenotype individual after molecular testing Age/Diagnosis 00y01m Age/Onset 00y00m03d Phenotype/Onset lethargy, myoclonic and seizures Phenotype details MRI:Extracerebral space and bilateral ventricles;Alive at 3 year 2 months, seizures, choreiform movement disorders Protein - Owner name Zhizi Zhou Database submission license No license selected Created by Zhizi Zhou Date created 2024-08-13 05:08:51 +02:00 (CEST) Date last edited 2024-08-16 09:33:41 +02:00 (CEST)

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