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