Global Variome shared LOVD

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Phenotype #0000229953 Individual ID 00302875 Associated disease NBIA Phenotype details development prior to seizure onset delayed speech acquisition, no spontaneous speech, could repeat and imitate intonation and speech sounds at 12m; 12m- onset seizures, focal seizure with fever; after seizure onset severe intellectual disability, few single words, walks independently, regression with seizure onset: loss of “babble”; febrile focal impaired awareness seizures (onset 1y); seizure offset 3y; EEG no definite epileptiform discharges, background slowing; MRI brain 1y6m-thin corpus callosum, normal white matter volume and myelination, 3y6m-mild cerebellar atrophy of superior vermis, prominent ventricles, extra axial cerebrospinal fluid spaces, thin corpus callosum, mild reduction in white matter, myelination normal; sleep disturbance, no dysmorphic or behavioral features Diagnosis/Initial focal seizures with fever Inheritance Isolated (sporadic) Diagnosis/Definite NBIA5 Age/Examination 4y (4 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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