Global Variome shared LOVD

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Phenotype #0000229972 Individual ID 00302894 Associated disease NBIA Phenotype details head control-3m, sit-6m, unable tostand up, unable to walk without assistance, speech not acquired meaningful words; 10m-initial episode of status epilepticus associated with pyrexia, EEG normal, CTbrain normal; multiple episodes occurred, 2y2m-status epilepticus induced by pyrexia, flu test negative, MRI brain hypointensity to isointensity on T1-weighted images, hyperintensity on T2-weighted images, swelling globus pallidus and substantia nigra, QSM showed increased magnetic susceptibility globus pallidus (381 ppb) and substantia nigra (425 ppb) Diagnosis/Initial developmental delay Inheritance Isolated (sporadic) Diagnosis/Definite NBIA5 Age/Examination 02y02m (2 years, 2 months) 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 2020-06-03 15:17:48 +02:00 (CEST) Date last edited N/A

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