Global Variome shared LOVD

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Phenotype #0000269525 Individual ID 00374315 Associated disease ? Diagnosis/Initial encephalopathy Diagnosis/Definite - Phenotype details Drooping neck, upper limb hypotonia, brisk reflex in lower limb, delay in walking, motor and language delay and recurrent respiratory tract infection. MRI showed white matter volume loss. Inheritance Familial, autosomal recessive Age/Examination - 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 2021-05-24 20:06:48 +02:00 (CEST) Date last edited N/A

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