Global Variome shared LOVD

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Phenotype #0000270855 Individual ID 00375642 Associated disease ? Diagnosis/Initial - Diagnosis/Definite - Phenotype details developmental regression; spastic diplegia; autism spectrum disorder; macrocephaly; seizures; spastic diplegia, dystonia; hyper-reflexia; MRI brain globus pallidus signal changes Inheritance Familial, autosomal recessive Age/Examination - Age/Diagnosis 4y 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 2021-06-14 20:30:20 +02:00 (CEST) Date last edited N/A

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