Global Variome shared LOVD

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Phenotype #0000242702 Individual ID 00324121 Associated disease ? Diagnosis/Initial - Diagnosis/Definite - Phenotype details 6y9m-OFC +0.8 SD; severe intellectual disability or developmental delay; 11d-apneas, lip smacking, repetitive swallowing, eye deviation, facial twitching; 11m-focal seizures, rarely generalized; 6y8m-ictal EEG, left fronto-temporal focus; normal tone, normal reflexes; left anterior temporal lobectomy, partial amygdalo-hippocampectomy Inheritance Isolated (sporadic) Age/Examination 13y (13 years) Age/Diagnosis - Age/Onset 11d Phenotype/Onset 11d-apneas, lip smacking, repetitive swallowing, eye deviation, facial twitching 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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