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