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