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