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