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