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