| 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
Developmental delay Gait difficulties Intellectual developmental disorder Dystonia, limb Postural instability Dystonia (any or unspecified) Dystonia, task-specific Hypotonia Diurnal fluctuations Lower limb dystonia Show more (+8) |
Dystonia (any or unspecified)
|
|
Yes
|
♀
|
A
|
CHN
|
n.a.
|
2
|
n.a.
|
Postural instability
Intellectual developmental disorder Gait difficulties Dystonia (any or unspecified) Developmental delay Delayed motor development Dystonia/Parkinsonism Diurnal fluctuations Parkinsonism Bradykinesia Dystonia, limb Lower limb dystonia Show more (+9) |
Gait difficulties
|