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