| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♀
|
C
|
CZE
|
6
|
13
|
n.a.
|
Dystonia (any or unspecified)
Dystonia, limb Dystonia, axial Motor delay Dystonia, cervical Dysmorphic features Delayed speech and language development Cognitive impairment Dystonia, generalized Global developmental delay Show more (+7) |
n.a.
|