Global Variome shared LOVD

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Phenotype #0000242703 Individual ID 00324122 Associated disease ? Diagnosis/Initial - Diagnosis/Definite - Phenotype details 19y-OFC -0.2 SD; severe intellectual disability or developmental delay; 4w-apneas, stiffness; 2m-focal seizures, 6m-flexor spasms; 6m-EEG hypsarrhythmia suggestive Lennox-Gastaut syndrome; low axial tone, mild limb hypertonia, no hyperreflexia or tremor; severe scoliosis Inheritance Isolated (sporadic) Age/Examination 19y (19 years) Age/Diagnosis - Age/Onset 28d Phenotype/Onset 4w-apneas, stiffness 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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