Global Variome shared LOVD

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Phenotype #0000337134 Individual ID 00447941 Associated disease EIEE Phenotype details see paper; ..., postnatal microcephaly, hypotonia, global developmental delay, polymyoclonus; seizure types myoclonic, atonic, myoclonic, partial seizures, generalized tonic clonic, atypical absence; EEG 1-2hz delta, generalized spike wave; MRI brain delayed myelination Diagnosis/Initial early infantile epileptic encephalopathy Inheritance Isolated (sporadic) Diagnosis/Definite VSVS Age/Examination - Age/Diagnosis - Age/Onset 6m 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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