| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
n.a.
|
n.a.
|
n.a.
|
1
|
15
|
No
|
Muscular hypotonia
Parkinsonism Dyskinesia Dystonia, arm Dystonia, axial Dystonia, limb Dystonia (any or unspecified) Dystonia, oromandibular Hyperreflexia Cognitive impairment Dystonia, generalized Bradykinesia Dystonia, craniofacial Show more (+10) |
Muscular hypotonia
Dystonia, arm Bradykinesia |