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