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