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