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