Global Variome shared LOVD

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Phenotype #0000301090 Individual ID 00408972 Associated disease PKDYS1;DTDS Phenotype details infantile-onset rigidity, dystonia, or chorea; dopamine non-responsive parkinsonism; progressive frontal lobe degeneration Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite Parkinsonism-dystonia, infantile (PKDYS, dopamine transporter deficiency syndrome (DTDS)) Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-04-29 17:32:37 +02:00 (CEST) Date last edited N/A

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