Global Variome shared LOVD

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Phenotype #0000229954 Individual ID 00302876 Associated disease NBIA Phenotype details delayed development prior to seizure onset, sat-2.5y, no speech, standing with support, not walking; onset seizures 36m, drop attacks, severe intellectual disability, walks with assistance, reaches for spoon; focal impaired awareness seizures; seizure offset ongoing; EEG diffuse moderate background slowing, multifocal discharges, generalized spike-wave, generalised paroxysmal fast activity; MRI brain normal; episodes of hyperventilation, severe autistic behavior, no dysmorphic features Diagnosis/Initial developmental and epileptic encephalopathy Inheritance Isolated (sporadic) Diagnosis/Definite NBIA5 Age/Examination 3y (3 years) Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2020-06-02 21:08:08 +02:00 (CEST) Date last edited N/A

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