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