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