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