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