Global Variome shared LOVD

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Phenotype #0000337130 Individual ID 00447937 Associated disease EIEE Phenotype details see paper; ..., global developmental delay, postnatal microcephaly, spastic quadriparetic CP, chorea, dystonia; seizure types focal onset with secondary generalized tonic clonic; EEG Focal slowing; MRI brain normal Diagnosis/Initial early infantile epileptic encephalopathy Inheritance Isolated (sporadic) Diagnosis/Definite DEE13 Age/Examination 04y (4 years) Age/Diagnosis - Age/Onset 00y02m 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 2024-02-02 19:01:45 +01:00 (CET)

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