| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♂
|
C
|
ITA
|
0
|
2
|
No
|
Autonomic sign/sympt.
Developmental delay Cognitive impairment Upper limb dystonia Diurnal fluctuations Lower limb dystonia Rigidity Hyperreflexia Dystonia/Parkinsonism Intellectual developmental disorder Oculogyric crisis Hypotonia Residual motor signs Delayed motor development Dystonia, limb Bradykinesia Parkinsonism Dystonia (any or unspecified) Show more (+15) |
Hypotonia
Bradykinesia |