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