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