| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♀
|
n.a.
|
n.a.
|
1
|
4
|
No
|
Dyskinesia
Developmental delay Delayed motor development Hypotonia Dysarthria Diurnal fluctuations Show more (+3) |
Hypotonia
|