| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♂
|
A
|
CHN
|
2
|
10
|
n.a.
|
Dystonia, generalized
Dystonia, foot Severe global developmental delay Dystonia, tongue Dystonia,task-specific Dystonia, leg Delayed speech and language development Dystonia (any or unspecified) Cognitive impairment Moderate global developmental delay Dystonia, craniofacial Dystonia, limb Motor delay Dystonia, laryngeal Dystonia, cervical Dysphonia Dystonia, arm Global developmental delay Dystonia, axial Show more (+16) |
n.a.
|