| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♂
|
A
|
CHN
|
0
|
2
|
n.a.
|
Upper limb dystonia
Dystonia, axial Delayed motor development Tremor, action Dystonia, generalized Dystonia (any or unspecified) Cognitive impairment Tremor (any or unspecified) Lower limb dystonia Dystonia, cervical Sleep disorder Developmental delay Dystonia, limb Intellectual developmental disorder Dystonia, task-specific Hypotonia Show more (+13) |
Hypotonia
|
|
Yes
|
♀
|
A
|
CHN
|
0
|
1
|
n.a.
|
Hypotonia
|
||
Yes
|
♂
|
A
|
CHN
|
0
|
1
|
n.a.
|
Developmental regression
Tremor (any or unspecified) Delayed motor development Hypotonia Show more (+1) |
Hypotonia
|