| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♀
|
C
|
GRC
|
0
|
3
|
No
|
Developmental delay
Resting tremor Cognitive impairment Myoclonus Rigidity Dystonia, limb Hypotonia Tremor (any or unspecified) Bradykinesia Lower limb dystonia Parkinsonism Upper limb dystonia Delayed motor development Dystonia/Parkinsonism Intellectual developmental disorder Autonomic sign/sympt. Residual motor signs Dystonia, segmental/multifocal Dystonia (any or unspecified) Show more (+16) |
Myoclonus
|