| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♂
|
C
|
ROU
|
0
|
3
|
No
|
Dystonia, segmental/multifocal
Upper limb dystonia Myoclonus Developmental delay Postural instability Bradykinesia Short stature Tremor (any or unspecified) Rigidity Dystonia, limb Dystonia (any or unspecified) Delayed motor development Tremor, action Hypotonia Lower limb dystonia Parkinsonism Developmental regression Intellectual developmental disorder Dystonia/Parkinsonism Decreased body weight Cognitive impairment Show more (+18) |
Myoclonus
Developmental delay |