| 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
Dystonia, cervical Myoclonus, action Dystonia (any or unspecified) Dystonia, task-specific Myoclonus at rest Myoclonus, cervical Myoclonus,generalized Anxiety panic attacks Myoclonus, axial Myoclonus Writer's Cramp Cognitive impairment Muscular hypotonia Show more (+11) |
Myoclonus,generalized
|