| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♀
|
A
|
CHN
|
1
|
5
|
n.a.
|
Rigidity
Dystonia (any or unspecified) Delayed speech and language development Muscular hypotonia Developmental regression Motor delay Global developmental delay Show more (+4) |
n.a.
|