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