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