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