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