Global Variome shared LOVD

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Phenotype #0000229975 Individual ID 00302898 Associated disease NBIA Phenotype details walking-15m; speech slower than peers; no dystonia; epileptic seizure; cognitive dysfunction; MRI brain normal cerebral white matter, normal corpus callosum, clear gray matter boundaries, normal cerebral ventricle, abnormal SEEG/VEEG; developmental delay Diagnosis/Initial developmental dealy Inheritance Isolated (sporadic) Diagnosis/Definite NBIA5 Age/Examination - Age/Onset 15m Phenotype/Onset 15m febrile seizures 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 15:56:13 +02:00 (CEST) Date last edited N/A

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