| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♂
|
C
|
GRC
|
0
|
7
|
n.a.
|
Delayed motor development
Upper limb dystonia Motor fluctuations Cognitive impairment Dystonia/Parkinsonism Dystonia, limb Sleep disorder Developmental delay Diurnal fluctuations Dystonia, segmental/multifocal Bradykinesia Oculogyric crisis Dystonia (any or unspecified) Intellectual developmental disorder Hypotonia Dyskinesia Gait difficulties Residual motor signs Decreased body weight Tremor (any or unspecified) Short stature Parkinsonism Show more (+19) |
Developmental delay
Hypotonia Tremor (any or unspecified) |