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