Global Variome shared LOVD

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Phenotype #0000228798 Individual ID 00301700 Associated disease ? Diagnosis/Initial - Diagnosis/Definite - Phenotype details 3y-developmental delay. His evaluation confirmed global developmental delay and revealed the presence of dyskinetic movement. Brain MRI was suggestive of leukodystrophy. EEG was abnormal with multifocal activity. He has two healthy siblings. Inheritance Familial, autosomal recessive Age/Examination 7y (7 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2020-05-22 17:20:34 +02:00 (CEST) Date last edited N/A

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