Global Variome shared LOVD

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Phenotype #0000343283 Individual ID 00454642 Associated disease GA1 Inheritance Unknown Age/Onset - Diagnosis/Initial - Age/Examination - Diagnosis/Definite 45y00m Age/Diagnosis - Phenotype/Onset - Phenotype details Phenotype: generalized involuntary movements that were more pronounced on the left side of the body (jerky, chaotic movements of the arms during rest, posture, and action, thought to be consistent with chorea and possible additional myoclonus); mother noticed these involuntary movements from a very young age and they were slightly progressive over the years; There was dystonia of the hand during writing and tapping with intermittent abnormal posture of the feet; Pregnancy and birth: normal; Development: delayed walking at 02y, but other motor milestones were normal; Neurological findings: dystonia of the neck, mild ororfacial dystonia, and slight dysarthria; eye movement examination showed some saccadic intrusions during smooth pursuit; Imaging: MRI showed abnormalities of the dorsal putamen Protein - Biochem - Enzyme/Activity - Owner name Sabrina Oeser Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Sabrina Oeser Date created 2024-09-22 14:09:46 +02:00 (CEST) Date last edited N/A

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