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