Global Variome shared LOVD

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Phenotype #0000229846 Individual ID 00302764 Associated disease NBIA Phenotype details see paper; ..., significant developmental delay in early childhood, severe intellectual disability, neurodegeneration with progressive dystonia and dementia in third decade; MRI brain low signal substantia nigra and both globus pallidi on T2-weighted imaging, no eye-of-the-tiger sign; computed tomography bilateral dense calcification globus pallidus Diagnosis/Initial intellectual disability Inheritance Isolated (sporadic) Diagnosis/Definite NBIA5 Age/Examination 25y (25 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 2020-05-31 12:18:39 +02:00 (CEST) Date last edited N/A

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