Global Variome shared LOVD

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Phenotype #0000319399 Individual ID 00428495 Associated disease WND Phenotype details see paper; ..., 17y-slowness of movement, unsteadiness, slurring speech; dystonia involving all 4 limbs; 18y-irritability, aggressive; no tremor; Parkinsonism; abnormal speech; normal swallowing; normal salivation; abnormal posture/gait; Kayser-Fleischer ring cornea Diagnosis/Initial Wilson disease Inheritance Familial, autosomal recessive Diagnosis/Definite WND Age/Examination - Age/Diagnosis - Age/Onset 17y 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 2023-01-05 09:31:02 +01:00 (CET) Date last edited N/A

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