Global Variome shared LOVD

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Phenotype #0000337149 Individual ID 00447959 Associated disease NDD Diagnosis/Initial seizure Diagnosis/Definite MRD53 Phenotype details see paper; ..., 3m-seizure; eye deviation to left, tonic opisthotonic posturing, upward gazing; EEG multifocal spikes in fp2, t4, t8, o1 and o2; OFC 33.5 cm (+0.4 SD) at birth, 45.6 cm (+0.8 SD) at 10 month, 49.9 cm (−0.2 SD) at 5y; bedridden; profound intelletucal disability, hypotonia, erratic myoclonus; erratic myoclonus; no ataxia; MRI brain 2y-normal; 9y-progressive cerebellar atrophy Inheritance Isolated (sporadic) Age/Examination 16y (16 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 2024-02-05 12:29:02 +01:00 (CET) Date last edited N/A

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