| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♀
|
A
|
JPN
|
3
|
19
|
Yes
|
Muscular hypotonia
Delayed gross motor development Chorea -Motor Motor delay Gait impairment Hypothyroidism Show more (+4) |
Chorea
|
|
No
|
♀
|
A
|
JPN
|
6
|
47
|
Yes
|
Chorea
|