| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♂
|
C
|
FRA
|
0
|
28
|
n.a.
|
Dystonia, segmental/multifocal
Parkinsonism Delayed motor development Dysarthria Dystonia (any or unspecified) Oculogyric crisis Upper limb dystonia Postural instability Sleep disorder Dystonia/Parkinsonism Dystonia, limb Diurnal fluctuations Developmental delay Hypotonia Sleep benefit Bradykinesia Show more (+13) |
Oculogyric crisis
Hypotonia |