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