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