| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♀
|
n.a.
|
n.a.
|
1
|
21
|
Yes
|
Developmental delay
Cognitive impairment Myoclonus, cervical Myoclonus,generalized Writer's Cramp Anxiety panic attacks Muscular hypotonia Dystonia, cervical Myoclonus, action Myoclonus at rest Myoclonus Myoclonus, axial Dystonia, task-specific Dystonia (any or unspecified) Show more (+11) |
Myoclonus,generalized
|