Global Variome shared LOVD

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Phenotype #0000229914 Individual ID 00302833 Associated disease NBIA Phenotype details see paper; ..., encephalopathy, severe psychomotor disability, epilepsy Diagnosis/Initial - Inheritance Isolated (sporadic) Diagnosis/Definite NBIA5 Age/Examination - 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 2020-06-01 20:54:12 +02:00 (CEST) Date last edited N/A

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