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