Global Variome shared LOVD

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Phenotype #0000304951 Individual ID 00412965 Associated disease DEE Diagnosis/Initial epileptic encephalopathy Diagnosis/Definite DEE17 Phenotype details 7m-opisthotonic posture, developmental delay; 5y-diffuse irregular spike-and-slow-wave complex; 5y-focal seizure (tonic upgaze), tonic seizure; severe chorea, athetosis; seizure control intractabl (several times per day); no head control; not sitting; no speech; MRI 1y3m-delayed myelination, 4y8m-reduced cerebral white matter, thin corpus callosum Inheritance Isolated (sporadic) Age/Examination 8y (8 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2022-07-07 11:30:20 +02:00 (CEST) Date last edited N/A

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