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