| 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, Upper Limb Obssesive Compulsive Disorder Tremor (any or unspecified) Myoclonus, axial Myoclonus, cervical Developmental delay Anxiety panic attacks Myoclonus, lower limb Dystonia (any or unspecified) Myoclonus,generalized Myoclonus Dystonia, truncal Dystonia, task-specific Cognitive impairment Depression Show more (+13) |
Myoclonus, Upper Limb
Myoclonus, axial Myoclonus, lower limb |