Graziola, 2019: Overview of all reported DYT-KCTD17 patients

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
Yes
C
ITA
n.a.
8
No
Myoclonus
Dyskinesia
Myoclonus, lower limb
Myoclonus, multifocal
Developmental delay
Dystonia, upper limb
Myoclonus, Upper Limb
Dystonia (any or unspecified)
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Developmental delay
c.508-2A>T: het