Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
---|---|---|---|---|---|---|---|---|---|
Yes
|
♂
|
C
|
TUR
|
17
|
20
|
No
|
Global developmental delay
Dystonia, leg Cognitive impairment Dystonia (any or unspecified) Motor delay Dystonia, limb Dystonia, generalized Delayed speech and language development Dystonia, axial Show more (+6) |
n.a.
|
|
Yes
|
♂
|
C
|
TUR
|
0
|
26
|
No
|
Dystonia, generalized
Cognitive impairment Dystonia, leg Dysarthria Dystonia (any or unspecified) Dystonia, limb Dystonia, arm Dystonia, axial Dystonia, cervical Dystonia, laryngeal Dystonia, craniofacial Show more (+8) |
n.a.
|