Global Variome shared LOVD

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Phenotype #0000269743 Individual ID 00374533 Associated disease ? Diagnosis/Initial developmental delay Diagnosis/Definite - Phenotype details Muscle weakness, hypotonia, developmental delay, abnormal jerky movements, poor visual fixation, hyperekplexia and poor head control. MRI showed diffused cerebral atrophy and white matter hyperintensity 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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