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