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