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