| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♀
|
n.a.
|
n.a.
|
2
|
6
|
No
|
Developmental regression
Dystonia (any or unspecified) Dystonia, leg Gait impairment Athetosis Cerebellar signs Delayed gross motor development Dystonia Chorea -Motor Falls Ataxia Show more (+9) |
Chorea
Falls |