| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♀
|
A
|
THA
|
0
|
2
|
No
|
Muscular hypotonia
Abnormal central motor function Dystonia (any or unspecified) |
Muscular hypotonia
Dystonia (any or unspecified) |