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