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