Global Variome shared LOVD

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Phenotype #0000142631 Individual ID 00180177 Associated disease ? Diagnosis/Initial epilepsy or seizures associated with neurodevelopmental disorders and/or congenital malformations Diagnosis/Definite EIEE-28 Phenotype details Epileptic encephalopathy (HP:0200134), (severe) infantile muscular hypotonia (HP:0008947). Inheritance Familial, autosomal recessive Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2018-08-24 19:40:22 +02:00 (CEST) Date last edited N/A

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