Global Variome shared LOVD

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Phenotype #0000242701 Individual ID 00324120 Associated disease ? Diagnosis/Initial - Diagnosis/Definite - Phenotype details 13y10m-OFC-1.4 SD; profound intellectual disability or developmental delay; 11d-apneas, repetitive swallowing, head deviation, eye twitching; 2m-focal seizures, 7m-generalized seizures; EEG multiple epileptogenic temporal foci, epilepsy of infancy with migrating focal seizures considered; hypotonia, no hyperreflexia; constipation, abdominal pain, subtotal colectomy, ileostomy Inheritance Isolated (sporadic) Age/Examination 15y (15 years) Age/Diagnosis - Age/Onset 11d Phenotype/Onset 11d-apneas, repetitive swallowing, head deviation, eye 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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