Global Variome shared LOVD

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Phenotype #0000328877 Individual ID 00438979 Associated disease ? Diagnosis/Initial movement disorder Diagnosis/Definite - Phenotype details see paper; ..., abnormal gait; mild axial hypotonia; normal head balance; ataxia; pyramidal signs; extrapyramidal signs, dystonia; saccadic pursuits, hypometric saccades; walking without support; no swallowing problems; speech delay, dysarthria; cognition seems normal; no epilepsy; normal dentition; OFC normal; no myopia; no hearing loss Inheritance Familial, autosomal recessive Age/Examination 6y (6 years) Age/Diagnosis - Age/Onset 13m 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 2023-10-26 21:30:32 +02:00 (CEST) Date last edited N/A

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