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