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