Global Variome shared LOVD

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Phenotype #0000242925 Individual ID 00324383 Associated disease DYT5 Phenotype details HPO´s: (+) Ataxia,(+) Dystonia,(+) Frequent falls,(+) Functional motor deficit,(+) Abnormality of coordination,(+) Abnormality of movement / clinically like segawa dystonia with varying response to L-dopa, predominantly ataxia and falls, clinically significant permanent loss of dopa response and significant ataxia, these and falls are prominent, no PNP, no clear cerebellar signs Diagnosis/Initial - Inheritance Unknown Diagnosis/Definite - Age/Examination 56y (56 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Andreas Laner Database submission license Creative Commons Attribution 4.0 International Created by Andreas Laner Date created 2020-12-08 13:40:07 +01:00 (CET) Date last edited 2020-12-09 10:32:54 +01:00 (CET)

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