Global Variome shared LOVD

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Phenotype #0000242707 Individual ID 00324126 Associated disease ? Diagnosis/Initial - Diagnosis/Definite - Phenotype details 3y2m-OFC -2.6 SD; severe intellectual disability or developmental delay; 6m-focal siezures; 6m-focal seizure, also spasms, myoclonic seizures, generalized tonic-clonic seizures; 23m-EEG atypical hypsarrhythmia and intermittent burst suppression; limb hypertonia, positive Babinski sign, ankle clonus; 14m-regression Inheritance Isolated (sporadic) Age/Examination 5y8m (5 years, 8 months) Age/Diagnosis - Age/Onset 6m Phenotype/Onset 6m-focal siezures 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 2020-12-01 12:19:20 +01:00 (CET) Date last edited N/A

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