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