| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♀
|
n.a.
|
n.a.
|
n.a.
|
2
|
n.a.
|
Motor delay
Muscular hypotonia Dystonia/Parkinsonism Upper limb dystonia Dystonia, generalized Delayed speech and language development Dystonia, arm Dystonia (any or unspecified) Lower limb dystonia Dystonia, lower face Dystonia, hand Dystonia, foot Dystonia, task-specific Dystonia, leg Dystonia, axial Hyperreflexia Dystonia, limb Bradykinesia Dystonia, craniofacial Show more (+16) |
n.a.
|