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