| 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 (any or unspecified) Dystonia, limb Dystonia (any or unspecified) Tremor, action Cognitive impairment Delayed motor development Dystonia, axial Upper limb dystonia Lower limb dystonia Dystonia, cervical Dystonia, generalized Hypotonia Intellectual developmental disorder Sleep disorder Developmental delay Show more (+13) |
Hypotonia
|
|
Yes
|
♀
|
A
|
CHN
|
0
|
1
|
n.a.
|
Hypotonia
|
||
Yes
|
♂
|
A
|
CHN
|
0
|
1
|
n.a.
|
Delayed motor development
Developmental regression Tremor (any or unspecified) Hypotonia Show more (+1) |
Hypotonia
|