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