| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♂
|
A
|
CHN
|
n.a.
|
6
|
n.a.
|
Lower limb dystonia
Developmental regression Hyperreflexia Diurnal fluctuations Motor delay Global developmental delay Dystonia (any or unspecified) Dystonia, limb Dystonia, segmental/multifocal Spasticity Delayed speech and language development Dystonia, leg Show more (+9) |
Dystonia, leg
|