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