Global Variome shared LOVD

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Phenotype #0000337129 Individual ID 00447936 Associated disease EIEE Phenotype details see paper; ..., hypotonia, global developmental delay, cerebral palsy, dysphagia; seizure types generalized tonic; EEG Slow background, multifocal and generalized spike wave discharges; MRI brain delayed myelination Diagnosis/Initial early infantile epileptic encephalopathy Inheritance Isolated (sporadic) Diagnosis/Definite NEDEPH Age/Examination - Age/Diagnosis - Age/Onset <1m Phenotype/Onset - Protein - Intellectual_dis - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2024-02-02 18:50:24 +01:00 (CET) Date last edited N/A

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