| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♀
|
n.a.
|
n.a.
|
3
|
34
|
Yes
|
Myoclonus
Myoclonus, Upper Limb Myoclonus,generalized Depression Dystonia, task-specific Myoclonus, lower limb Developmental regression Anxiety panic attacks Dystonia (any or unspecified) Tremor (any or unspecified) Myoclonus, cervical Dystonia, truncal Obssesive Compulsive Disorder Cognitive impairment Developmental delay Myoclonus, axial Show more (+13) |
Myoclonus, Upper Limb
Myoclonus, lower limb Myoclonus, axial |