| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♀
|
C
|
DEU
|
4
|
11
|
n.a.
|
Torticollis
Dystonia, lower face Microcephaly Dystonia, arm Dystonia, cervical Dysarthria Tremor, limb Tremor (any or unspecified) Myoclonus Cognitive impairment Dystonia, oromandibular Dystonia, hand Dysphonia Dystonia (any or unspecified) Dystonic tremor Dystonia, craniofacial Dystonia, generalized Dystonia, limb Dystonia, axial Dystonia, leg Show more (+17) |
n.a.
|