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