Global Variome shared LOVD

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Phenotype #0000172997 Individual ID 00229791 Associated disease EIEE Phenotype details walks with support; no speech; no comprehension ; regression; severe DD or ID (IQ <30); 4w-onset seizures (2x status epilepticus); MRI secondarily acute diffusion and white-matter abnormalities, atrophy; hypotonia; movement disorder; no stereotypies; pleasant behavior; full lower lip, flat maxillae; 14y-acute onset of hemiparesis during febrile short-lasting seizure Diagnosis/Initial early infantil epileptic encephalopathy Inheritance Isolated (sporadic) Diagnosis/Definite EIEE-64 Age/Examination 14y (14 years) Age/Diagnosis - Age/Onset - 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 2019-04-10 22:37:14 +02:00 (CEST) Date last edited N/A

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