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