| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♂
|
A
|
CHN
|
0
|
1
|
n.a.
|
Dystonia (any or unspecified)
Diurnal fluctuations Developmental delay Short stature Intellectual developmental disorder Hypotonia Delayed motor development Show more (+4) |
Hypotonia
|