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