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