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