| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♀
|
A
|
CHN
|
1
|
1
|
n.a.
|
Delayed motor development
Diurnal fluctuations Hypotonia Lower limb dystonia Dystonia, task-specific Developmental delay Dystonia, limb Postural instability Gait difficulties Intellectual developmental disorder Dystonia (any or unspecified) Show more (+8) |
Dystonia (any or unspecified)
|
|
Yes
|
♀
|
A
|
CHN
|
n.a.
|
2
|
n.a.
|
Dystonia (any or unspecified)
Developmental delay Dystonia, limb Intellectual developmental disorder Lower limb dystonia Dystonia/Parkinsonism Diurnal fluctuations Parkinsonism Delayed motor development Postural instability Gait difficulties Bradykinesia Show more (+9) |
Gait difficulties
|