Global Variome shared LOVD

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Phenotype #0000331324 Individual ID 00441941 Associated disease ? Diagnosis/Initial trunk instability, occasional jerks Diagnosis/Definite - Phenotype details see paper (Skorvanek); ..., Parkinsonism; dystonia; chorea, drug-induced dyskinesia; action tremor; seizures; oculogyric crisis, ptosis, supranuclear gaze palsy, exotropia Inheritance Familial, autosomal recessive Age/Examination 11y (11 years) Age/Diagnosis - Age/Onset <9m 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 2023-11-15 14:04:23 +01:00 (CET) Date last edited N/A

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