Phenotype #0000319389

Individual ID 00428485
Associated disease WND
Phenotype details see paper; ..., normal cognition/behavior; 2y-weakness upper and lower limbs, 9y-slurring of speech ; no dystonia; no tremor; no Parkinsonism; abnormal speech; normal swallowing; normal salivation; normal posture/gait ; Kayser-Fleischer ring cornea
Diagnosis/Initial Wilson disease
Inheritance Familial, autosomal recessive
Diagnosis/Definite WND
Age/Examination -
Age/Diagnosis -
Age/Onset 9y
Phenotype/Onset -
Protein -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
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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