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