Global Variome shared LOVD

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Phenotype #0000229916 Individual ID 00302835 Associated disease NBIA Phenotype details see paper; ..., 3y10m-onset infantile spasms, developmental delay, intellectual disability, no speech, walk alone, MRI brain atrophy, myelination delay, iron deposition Diagnosis/Initial - Inheritance Isolated (sporadic) Diagnosis/Definite NBIA5 Age/Examination 04y (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 08:43:42 +02:00 (CEST) Date last edited N/A

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