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